#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
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	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_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	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_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	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_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	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
ABI2	10152	genome.wustl.edu	37	2	204240780	204240780	+	Splice_Site	SNP	G	G	C	rs527436964	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.chr2:204240780G>C	ENST00000261016.6	+	3	406	c.75G>C	c.(73-75)aaG>aaC	p.K25N	ABI2_ENST00000424558.1_Intron|ABI2_ENST00000295851.5_Intron|ABI2_ENST00000261017.5_Intron|ABI2_ENST00000422511.2_Intron|ABI2_ENST00000430418.1_Intron			Q9NYB9	ABI2_HUMAN	abl-interactor 2	71					actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						CTATACTTAGGCAAATTAGAG	0.318													G|||	2	0.000399361	0.0	0.0	5008	,	,		18305	0.002		0.0	False		,,,				2504	0.0																0																																										SO:0001630	splice_region_variant	0			AF260261	CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1	2q33	2010-09-20	2009-07-23		ENSG00000138443	ENSG00000138443			24011	protein-coding gene	gene with protein product		606442				7590236, 10964520	Standard	XM_005246217		Approved	ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2	uc002uzz.3	Q9NYB9	OTTHUMG00000132879	ENST00000261016.6:c.75-1G>C	2.37:g.204240780G>C			B4DSN1|Q13147|Q13249|Q13801|Q9BV70	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.K25N	ENST00000261016.6	37	c.75		2	.	.	.	.	.	.	.	.	.	.	G	7.694	0.691630	0.15039	.	.	ENSG00000138443	ENST00000261016	T	0.40476	1.03	2.27	2.27	0.28462	.	.	.	.	.	T	0.24928	0.0605	.	.	.	0.22156	N	0.999327	B	0.02656	0.0	B	0.01281	0.0	T	0.13575	-1.0504	7	.	.	.	.	8.1285	0.31014	0.0:0.0:1.0:0.0	.	25	Q9NYB9-3	.	N	25	ENSP00000261016:K25N	.	K	+	3	2	ABI2	203949025	0.012000	0.17670	0.027000	0.17364	0.247000	0.25773	0.527000	0.22987	1.576000	0.49790	0.557000	0.71058	AAG	ABI2	-	NULL	ENSG00000138443		0.318	ABI2-201	KNOWN	basic	protein_coding	ABI2	HGNC	protein_coding		-	0.00	61	0	G	NM_005759	Missense_Mutation	204240780	+1	tier1	-	no_errors	ENST00000261016	ensembl	human	known	74_37	missense	33.33	26	13	SNP	0.040	C
ACACB	32	genome.wustl.edu	37	12	109629445	109629445	+	Silent	SNP	G	G	T			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													179.0	161.0	167.0					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	-	0.00	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
ACRC	93953	genome.wustl.edu	37	X	70823925	70823925	+	Silent	SNP	C	C	T			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													32.0	34.0	33.0					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	-	0.00	101	0	C			70823925	+1	tier1	-	no_errors	ENST00000373695	ensembl	human	known	74_37	silent	28.57	70	28	SNP	0.203	T
ADAMTS16	170690	genome.wustl.edu	37	5	5209225	5209225	+	Missense_Mutation	SNP	C	C	A			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													169.0	167.0	168.0					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	-	0.00	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
ADD2	119	genome.wustl.edu	37	2	70906066	70906066	+	Missense_Mutation	SNP	G	G	A			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													153.0	145.0	148.0					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	-	0.00	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
AEBP1	165	genome.wustl.edu	37	7	44148552	44148552	+	Missense_Mutation	SNP	C	C	T	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	0.0	5008	,	,		17504	0.0		0.0	False		,,,				2504	0.001																0													55.0	49.0	51.0					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	-	0.00	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
AGBL5	60509	genome.wustl.edu	37	2	27291605	27291605	+	Missense_Mutation	SNP	G	G	A			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													72.0	79.0	77.0					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	-	0.00	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
AKR7A3	22977	genome.wustl.edu	37	1	19612452	19612452	+	Missense_Mutation	SNP	G	G	A			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													70.0	65.0	67.0					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		0.00	76	0	G	NM_012067		19612452	-1			no_errors	ENST00000361640	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.986	A
ALMS1	7840	genome.wustl.edu	37	2	73613049	73613049	+	Missense_Mutation	SNP	A	A	C			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													6.0	7.0	7.0					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		0.00	76	0	A	NM_015120		73613049	+1			no_errors	ENST00000264448	ensembl	human	known	74_37	missense	13.04	79	12	SNP	0.081	C
ALMS1	7840	genome.wustl.edu	37	2	73613052	73613052	+	Missense_Mutation	SNP	A	A	C			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													6.0	8.0	7.0					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	-	0.00	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
ANO4	121601	genome.wustl.edu	37	12	101133764	101133764	+	Missense_Mutation	SNP	G	G	T			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.chr12:101133764G>T	ENST00000538618.1	+	3	239	c.239G>T	c.(238-240)cGa>cTa	p.R80L				Q32M45	ANO4_HUMAN	anoctamin 4	0					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						GTGTACCACCGATCCTTCACC	0.537										HNSCC(74;0.22)																																							0																																										SO:0001583	missense	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		ENST00000538618.1:c.239G>T	12.37:g.101133764G>T	ENSP00000443751:p.Arg80Leu		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	NULL	p.R80L	ENST00000538618.1	37	c.239		12	.	.	.	.	.	.	.	.	.	.	G	10.26	1.300372	0.23650	.	.	ENSG00000151572	ENST00000538618	T	0.74315	-0.83	5.52	-6.24	0.02046	.	.	.	.	.	T	0.71056	0.3295	.	.	.	0.25865	N	0.983778	.	.	.	.	.	.	T	0.66814	-0.5828	6	0.40728	T	0.16	.	14.8257	0.70110	0.4816:0.0:0.5184:0.0	.	.	.	.	L	80	ENSP00000443751:R80L	ENSP00000443751:R80L	R	+	2	0	ANO4	99657895	0.000000	0.05858	0.028000	0.17463	0.187000	0.23431	-1.873000	0.01637	-0.986000	0.03498	-0.140000	0.14226	CGA	ANO4	-	NULL	ENSG00000151572		0.537	ANO4-202	KNOWN	basic	protein_coding	ANO4	HGNC	protein_coding		-	0.00	71	0	G	NM_178826		101133764	+1	tier1	-	no_errors	ENST00000538618	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.001	T
AP3B2	8120	genome.wustl.edu	37	15	83358148	83358148	+	Silent	SNP	G	G	T			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													64.0	61.0	62.0					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		0.00	51	0	G			83358148	-1			no_errors	ENST00000261722	ensembl	human	known	74_37	silent	5.06	75	4	SNP	1.000	T
APC	324	genome.wustl.edu	37	5	112175951	112175952	+	Frame_Shift_Ins	INS	-	-	A	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		0.00	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
ARMCX4	100131755	genome.wustl.edu	37	X	100749292	100749292	+	Missense_Mutation	SNP	G	G	A			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:100749292G>A	ENST00000423738.3	+	2	5918	c.5716G>A	c.(5716-5718)Gct>Act	p.A1906T		NM_001256155.1	NP_001243084.1	Q5H9R4	ARMX4_HUMAN	armadillo repeat containing, X-linked 4	0						integral component of membrane (GO:0016021)				lung(1)	1						TTTGTTTTGGGCTGAGAGTGA	0.458																																																	0																																										SO:0001583	missense	0			AK096955	CCDS59170.1	Xq22	2014-03-21	2009-11-26		ENSG00000196440	ENSG00000196440		"""Armadillo repeat containing"""	28615	protein-coding gene	gene with protein product			"""chromosome X open reading frame 35"", ""armadillo repeat containing, X-linked 4 pseudogene"""	CXorf35		16221301, 22569362	Standard	NR_028407		Approved	MGC40053, GASP4	uc031tkc.1	Q5H9R4	OTTHUMG00000022030	ENST00000423738.3:c.5716G>A	X.37:g.100749292G>A	ENSP00000404304:p.Ala1906Thr		A8K928|B3KXA4|Q5H9K8|Q8N8D6	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo	p.A1906T	ENST00000423738.3	37	c.5716	CCDS59170.1	X	.	.	.	.	.	.	.	.	.	.	.	4.007	-0.001397	0.07819	.	.	ENSG00000196440	ENST00000423738	.	.	.	4.51	3.64	0.41730	.	.	.	.	.	T	0.35828	0.0945	.	.	.	0.23776	N	0.996875	.	.	.	.	.	.	T	0.19679	-1.0298	4	.	.	.	.	8.2176	0.31521	0.1184:0.0:0.8816:0.0	.	.	.	.	T	2010	.	.	A	+	1	0	ARMCX4	100635948	1.000000	0.71417	0.999000	0.59377	0.114000	0.19823	2.400000	0.44504	0.990000	0.38787	0.442000	0.29010	GCT	ARMCX4	-	NULL	ENSG00000196440		0.458	ARMCX4-010	PUTATIVE	upstream_ATG|upstream_uORF|basic|appris_principal|CCDS	protein_coding	ARMCX4	HGNC	protein_coding	OTTHUMT00000370455.2	-	0.00	79	0	G	NM_001256155		100749292	+1	tier1	-	no_errors	ENST00000423738	ensembl	human	putative	74_37	missense	33.82	45	23	SNP	1.000	A
ATP2B3	492	genome.wustl.edu	37	X	152845487	152845487	+	Missense_Mutation	SNP	C	C	A			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													156.0	132.0	140.0					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	-	0.00	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
AXDND1	126859	genome.wustl.edu	37	1	179520618	179520618	+	Intron	SNP	G	G	C			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.chr1:179520618G>C	ENST00000367618.3	+	26	3418				NPHS2_ENST00000367616.4_Intron|NPHS2_ENST00000367615.4_Intron|RP11-545A16.1_ENST00000569644.1_RNA	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1											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						CAAAGTGATTGTTCTTCATTC	0.468																																																	0													47.0	46.0	46.0					1																	179520618		2203	4300	6503	SO:0001627	intron_variant	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.3032-3029G>C	1.37:g.179520618G>C			Q6AWB2|Q96LJ3|Q96M01	RNA	SNP	-	NULL	ENST00000367618.3	37	NULL	CCDS30948.1	1																																																																																			AXDND1	-	-	ENSG00000162779		0.468	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AXDND1	HGNC	protein_coding	OTTHUMT00000085312.1	-	0.00	29	0	G	NM_144696		179520618	+1	tier1	-	no_errors	ENST00000489080	ensembl	human	putative	74_37	rna	36.36	7	4	SNP	0.000	C
BARD1	580	genome.wustl.edu	37	2	215609878	215609878	+	Missense_Mutation	SNP	G	G	T			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													70.0	65.0	66.0					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	-	0.00	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
C19orf43	79002	genome.wustl.edu	37	19	12842231	12842231	+	Missense_Mutation	SNP	C	C	T			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													127.0	104.0	112.0					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	-	0.00	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
C1RL	51279	genome.wustl.edu	37	12	7254566	7254566	+	Missense_Mutation	SNP	G	G	A			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													118.0	108.0	111.0					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	-	0.00	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
C6orf222	389384	genome.wustl.edu	37	6	36298422	36298422	+	Missense_Mutation	SNP	C	C	A			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													41.0	46.0	45.0					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	-	0.00	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
C6orf165	154313	genome.wustl.edu	37	6	88173824	88173824	+	Silent	SNP	A	A	G			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													67.0	61.0	63.0					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	-	0.00	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
CACNA1F	778	genome.wustl.edu	37	X	49076164	49076164	+	Missense_Mutation	SNP	T	T	G			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													205.0	142.0	164.0					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	-	0.00	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
CACNA1H	8912	genome.wustl.edu	37	16	1256186	1256186	+	Missense_Mutation	SNP	C	C	T			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													33.0	40.0	38.0					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	-	0.00	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
CAV1	857	genome.wustl.edu	37	7	116199315	116199315	+	Missense_Mutation	SNP	C	C	T			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													81.0	73.0	76.0					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	-	0.00	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
DRC7	84229	genome.wustl.edu	37	16	57735908	57735908	+	Missense_Mutation	SNP	T	T	C			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													174.0	131.0	146.0					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		0.00	53	0	T			57735908	+1			no_errors	ENST00000360716	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	C
CCDC150	284992	genome.wustl.edu	37	2	197531526	197531526	+	Missense_Mutation	SNP	A	A	T			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													47.0	46.0	46.0					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	-	0.00	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
CCDC168	643677	genome.wustl.edu	37	13	103385590	103385590	+	Nonsense_Mutation	SNP	C	C	T			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.chr13:103385590C>T	ENST00000322527.2	-	1	3569	c.3570G>A	c.(3568-3570)tgG>tgA	p.W1190*		NM_001146197.1	NP_001139669.1	Q8NDH2	CC168_HUMAN	coiled-coil domain containing 168	1190																	GGGGGGCATTCCAGTTGGTGA	0.403																																																	0													147.0	119.0	127.0					13																	103385590		692	1591	2283	SO:0001587	stop_gained	0				CCDS73596.1	13q33.1	2014-06-17	2011-08-09	2011-08-09	ENSG00000175820	ENSG00000175820			26851	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 40"""	C13orf40			Standard	NM_001146197		Approved	FLJ40176	uc001vpm.3	Q8NDH2	OTTHUMG00000187287	ENST00000322527.2:c.3570G>A	13.37:g.103385590C>T	ENSP00000320232:p.Trp1190*		Q8N800	Nonsense_Mutation	SNP	NULL	p.W1190*	ENST00000322527.2	37	c.3570		13	.	.	.	.	.	.	.	.	.	.	C	37	6.059861	0.97246	.	.	ENSG00000175820	ENST00000322527	.	.	.	3.12	-0.351	0.12602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	2.7474	0.05271	0.0:0.3015:0.2553:0.4433	.	.	.	.	X	1190	.	ENSP00000320232:W1190X	W	-	3	0	CCDC168	102183591	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.705000	0.05052	-0.086000	0.12550	0.557000	0.71058	TGG	CCDC168	-	NULL	ENSG00000175820		0.403	CCDC168-201	KNOWN	basic|appris_principal	protein_coding	CCDC168	HGNC	protein_coding		-	0.00	66	0	C	NM_001146197		103385590	-1	tier1	-	no_errors	ENST00000322527	ensembl	human	known	74_37	nonsense	10.34	52	6	SNP	0.000	T
CCDC168	643677	genome.wustl.edu	37	13	103385951	103385951	+	Missense_Mutation	SNP	G	G	T			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.chr13:103385951G>T	ENST00000322527.2	-	1	3208	c.3209C>A	c.(3208-3210)tCc>tAc	p.S1070Y		NM_001146197.1	NP_001139669.1	Q8NDH2	CC168_HUMAN	coiled-coil domain containing 168	1070																	TGTGGGATAGGAAAGAAACGC	0.393																																																	0													154.0	128.0	136.0					13																	103385951		692	1590	2282	SO:0001583	missense	0				CCDS73596.1	13q33.1	2014-06-17	2011-08-09	2011-08-09	ENSG00000175820	ENSG00000175820			26851	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 40"""	C13orf40			Standard	NM_001146197		Approved	FLJ40176	uc001vpm.3	Q8NDH2	OTTHUMG00000187287	ENST00000322527.2:c.3209C>A	13.37:g.103385951G>T	ENSP00000320232:p.Ser1070Tyr		Q8N800	Missense_Mutation	SNP	NULL	p.S1070Y	ENST00000322527.2	37	c.3209		13	.	.	.	.	.	.	.	.	.	.	G	13.84	2.355896	0.41700	.	.	ENSG00000175820	ENST00000322527	T	0.04502	3.61	2.6	2.6	0.31112	.	.	.	.	.	T	0.06872	0.0175	N	0.08118	0	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.48127	-0.9062	9	0.23302	T	0.38	.	8.9876	0.36003	0.0:0.0:1.0:0.0	.	1070	Q8NDH2	CC168_HUMAN	Y	1070	ENSP00000320232:S1070Y	ENSP00000320232:S1070Y	S	-	2	0	CCDC168	102183952	0.983000	0.35010	0.201000	0.23476	0.146000	0.21551	2.945000	0.49043	1.794000	0.52575	0.501000	0.49751	TCC	CCDC168	-	NULL	ENSG00000175820		0.393	CCDC168-201	KNOWN	basic|appris_principal	protein_coding	CCDC168	HGNC	protein_coding		-	0.00	24	0	G	NM_001146197		103385951	-1	tier1	-	no_errors	ENST00000322527	ensembl	human	known	74_37	missense	27.27	16	6	SNP	0.295	T
CCKBR	887	genome.wustl.edu	37	11	6292639	6292639	+	Missense_Mutation	SNP	A	A	G	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	75.0	68.0	70.0		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	-	0.00	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
CCDC82	79780	genome.wustl.edu	37	11	96098165	96098165	+	Silent	SNP	A	A	G			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													98.0	97.0	97.0					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	-	0.00	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
CD99	4267	genome.wustl.edu	37	X	2651586	2651586	+	Intron	SNP	C	C	T			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:2651586C>T	ENST00000381192.3	+	9	657				CD99_ENST00000381184.1_3'UTR|CD99_ENST00000482405.2_3'UTR|CD99_ENST00000381187.3_Intron	NM_001277710.1|NM_002414.3	NP_001264639.1|NP_002405.1	P14209	CD99_HUMAN	CD99 molecule						cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						GCCTTCAGTTCCATATGCTTT	0.443																																																	0																																										SO:0001627	intron_variant	0			M16279	CCDS14119.1, CCDS48071.1, CCDS75947.1	Xp22.32 and Yp11.3	2012-10-02	2006-03-28	2003-02-14	ENSG00000002586	ENSG00000002586		"""Pseudoautosomal regions / PAR1"", ""CD molecules"""	7082	protein-coding gene	gene with protein product		313470, 450000	"""antigen identified by monoclonal antibodies 12E7, F21 and O13"", ""CD99 antigen"""	MIC2			Standard	NM_001122898		Approved		uc004cqm.3	P14209	OTTHUMG00000021073	ENST00000381192.3:c.476-4655C>T	X.37:g.2651586C>T			A6NIW1|O00518|Q6ICV7	RNA	SNP	-	NULL	ENST00000381192.3	37	NULL	CCDS14119.1	X																																																																																			CD99	-	-	ENSG00000002586		0.443	CD99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD99	HGNC	protein_coding	OTTHUMT00000055624.1	-	0.00	45	0	C	NM_001122898		2651586	+1	tier1	-	no_errors	ENST00000482405	ensembl	human	known	74_37	rna	37.50	20	12	SNP	0.000	T
CDH11	1009	genome.wustl.edu	37	16	65006915	65006915	+	Missense_Mutation	SNP	C	C	G	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													76.0	77.0	77.0					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	-	0.00	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
CDKN2A	1029	genome.wustl.edu	37	9	21974684	21974684	+	Missense_Mutation	SNP	G	G	A			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							76.0	90.0	85.0					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	-	0.00	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
CENPK	64105	genome.wustl.edu	37	5	64824852	64824852	+	Intron	SNP	C	C	T			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.chr5:64824852C>T	ENST00000396679.1	-	8	586				CENPK_ENST00000508421.1_Intron|CENPK_ENST00000510693.1_Intron|CENPK_ENST00000514814.1_Intron|CENPK_ENST00000506282.2_5'UTR|CENPK_ENST00000242872.3_Intron	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K						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)		TCCCTTTCGACATGGAAAAAC	0.289																																																	0													74.0	76.0	75.0					5																	64824852		2202	4294	6496	SO:0001627	intron_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.372-8G>A	5.37:g.64824852C>T			Q9H4L0	RNA	SNP	-	NULL	ENST00000396679.1	37	NULL	CCDS3984.1	5																																																																																			CENPK	-	-	ENSG00000123219		0.289	CENPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPK	HGNC	protein_coding	OTTHUMT00000253971.2	-	0.00	55	0	C	NM_022145		64824852	-1	tier1	-	no_errors	ENST00000506282	ensembl	human	known	74_37	rna	53.85	12	14	SNP	0.012	T
CHD5	26038	genome.wustl.edu	37	1	6206332	6206332	+	Missense_Mutation	SNP	C	C	T			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)											156.0	155.0	156.0					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		0.00	59	0	C	NM_015557		6206332	-1			no_errors	ENST00000262450	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	T
CHM	1121	genome.wustl.edu	37	X	85218846	85218846	+	Missense_Mutation	SNP	C	C	T			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							190.0	146.0	161.0					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	-	0.00	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
CHRM2	1129	genome.wustl.edu	37	7	136699845	136699845	+	Missense_Mutation	SNP	A	A	C			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													225.0	200.0	208.0					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	-	0.00	54	0	A			136699845	+1	tier1	-	no_errors	ENST00000320658	ensembl	human	known	74_37	missense	52.63	18	20	SNP	1.000	C
CRY2	1408	genome.wustl.edu	37	11	45892001	45892001	+	Silent	SNP	C	C	T			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													91.0	79.0	83.0					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	-	0.00	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
CSMD3	114788	genome.wustl.edu	37	8	113293572	113293572	+	Missense_Mutation	SNP	C	C	G			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													77.0	66.0	70.0					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	-	0.00	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
CSRP2BP	57325	genome.wustl.edu	37	20	18123481	18123481	+	Silent	SNP	C	C	G			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													178.0	123.0	142.0					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	-	0.00	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
CST1	1469	genome.wustl.edu	37	20	23728528	23728528	+	Silent	SNP	C	C	T			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.chr20:23728528C>T	ENST00000304749.2	-	3	421	c.351G>A	c.(349-351)ttG>ttA	p.L117L	CST1_ENST00000398402.1_Silent_p.L117L	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	117					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)	p.L117L(1)		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)					CGAAAGAGCACAACTGTTTCT	0.527																																																	1	Substitution - coding silent(1)	lung(1)											93.0	81.0	85.0					20																	23728528		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.351G>A	20.37:g.23728528C>T			Q96LE6|Q9UCQ6	Silent	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.L117	ENST00000304749.2	37	c.351	CCDS13160.1	20																																																																																			CST1	-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	ENSG00000170373		0.527	CST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CST1	HGNC	protein_coding	OTTHUMT00000078351.2		0.00	68	0	C	NM_001898		23728528	-1			no_errors	ENST00000304749	ensembl	human	known	74_37	silent	6.67	70	5	SNP	0.339	T
CYP19A1	1588	genome.wustl.edu	37	15	51510761	51510761	+	Silent	SNP	T	T	A			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													77.0	77.0	77.0					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		0.00	52	0	T			51510761	-1			no_errors	ENST00000260433	ensembl	human	known	74_37	silent	5.66	50	3	SNP	0.794	A
CYP51A1	1595	genome.wustl.edu	37	7	91761162	91761162	+	Missense_Mutation	SNP	G	G	T			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													45.0	46.0	46.0					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	-	0.00	77	0	G			91761162	-1	tier1	-	no_errors	ENST00000003100	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.972	T
DCC	1630	genome.wustl.edu	37	18	50918219	50918219	+	Missense_Mutation	SNP	C	C	T			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													99.0	93.0	95.0					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	-	0.00	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
DCC	1630	genome.wustl.edu	37	18	50923732	50923732	+	Missense_Mutation	SNP	A	A	G			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													122.0	107.0	112.0					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	-	0.00	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
DHRS9	10170	genome.wustl.edu	37	2	169940039	169940039	+	Missense_Mutation	SNP	G	G	A			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													83.0	77.0	79.0					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	-	0.00	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
DLEC1	9940	genome.wustl.edu	37	3	38126915	38126915	+	Missense_Mutation	SNP	G	G	A			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													69.0	76.0	74.0					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	-	0.00	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
DNAH7	56171	genome.wustl.edu	37	2	196741378	196741378	+	Missense_Mutation	SNP	G	G	T			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													153.0	133.0	139.0					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	-	0.00	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
DNAH9	1770	genome.wustl.edu	37	17	11607686	11607686	+	Missense_Mutation	SNP	G	G	A			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													98.0	93.0	94.0					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	-	0.00	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
DNTTIP2	30836	genome.wustl.edu	37	1	94343392	94343392	+	Silent	SNP	C	C	T			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													40.0	37.0	38.0					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		0.00	24	0	C	NM_014597		94343392	-1			no_errors	ENST00000436063	ensembl	human	known	74_37	silent	8.70	21	2	SNP	0.004	T
ENPP1	5167	genome.wustl.edu	37	6	132199731	132199731	+	Frame_Shift_Del	DEL	A	A	-			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													73.0	68.0	69.0					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		0.00	26	0	A			132199731	+1	tier1		no_errors	ENST00000360971	ensembl	human	known	74_37	frame_shift_del	6.90	27	2	DEL	0.996	-
RP11-632K20.7	0	genome.wustl.edu	37	15	32815390	32815390	+	RNA	SNP	T	T	A			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.chr15:32815390T>A	ENST00000561563.2	-	0	1176																											ACATGGATCGTAATAGACAAC	0.353																																																	0																																												0																															15.37:g.32815390T>A				RNA	SNP	-	NULL	ENST00000561563.2	37	NULL		15																																																																																			RP11-632K20.7	-	-	ENSG00000223509		0.353	RP11-632K20.7-002	KNOWN	basic	processed_transcript	ENSG00000223509	Clone_based_vega_gene	pseudogene	OTTHUMT00000429851.3	-	0.00	115	0	T			32815390	-1	tier1	-	no_errors	ENST00000561563	ensembl	human	known	74_37	rna	37.86	87	53	SNP	1.000	A
AC092687.4	0	genome.wustl.edu	37	2	10994612	10994612	+	Silent	SNP	A	A	T			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.chr2:10994612A>T	ENST00000418835.1	+	2	182	c.120A>T	c.(118-120)tcA>tcT	p.S40S																								tcctgtcttcatcagcacgac	0.458																																																	0																																										SO:0001819	synonymous_variant	0																														ENST00000418835.1:c.120A>T	2.37:g.10994612A>T				Silent	SNP	NULL	p.S40	ENST00000418835.1	37	c.120		2	.	.	.	.	.	.	.	.	.	.	A	3.146	-0.175218	0.06421	.	.	ENSG00000232056	ENST00000418835	.	.	.	2.73	-1.17	0.09648	.	.	.	.	.	T	0.26412	0.0645	.	.	.	.	.	.	.	.	.	.	.	.	T	0.30851	-0.9964	3	.	.	.	.	2.921	0.05768	0.4406:0.2472:0.3122:0.0	.	.	.	.	L	61	.	.	H	+	2	0	AC092687.4	10912063	0.001000	0.12720	0.000000	0.03702	0.011000	0.07611	-0.012000	0.12699	-0.256000	0.09473	-0.604000	0.04097	CAT	AC092687.4	-	NULL	ENSG00000232056		0.458	AC092687.4-001	PUTATIVE	basic|appris_principal	protein_coding	ENSG00000232056	Clone_based_vega_gene	protein_coding	OTTHUMT00000323580.2	-	0.00	68	0	A			10994612	+1	tier1	-	no_errors	ENST00000418835	ensembl	human	putative	74_37	silent	22.81	44	13	SNP	0.000	T
CR381670.1	0	genome.wustl.edu	37	21	9683195	9683195	+	RNA	SNP	G	G	A	rs372098410		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.chr21:9683195G>A	ENST00000459169.1	+	0	5																											ttagaccctcgcagcagtgtt	0.468																																																	0																																												0																															21.37:g.9683195G>A				RNA	SNP	-	NULL	ENST00000459169.1	37	NULL		21																																																																																			CR381670.1	-	-	ENSG00000238411		0.468	CR381670.1-201	NOVEL	basic	miRNA	ENSG00000238411	Clone_based_ensembl_gene	miRNA		-	0.00	12	0	G			9683195	+1	tier1	-	no_errors	ENST00000459169	ensembl	human	novel	74_37	rna	75.00	1	3	SNP	0.002	A
ATR	545	genome.wustl.edu	37	3	142184164	142184164	+	Intron	DEL	A	A	-	rs78538255		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.chr3:142184164delA	ENST00000350721.4	-	41	7019				ATR_ENST00000383101.3_Intron|RP11-383G6.3_ENST00000460977.1_RNA	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase						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						TGAGTTATGTAAAAAAAAAAA	0.244								Other conserved DNA damage response genes																																									0																																										SO:0001627	intron_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.6898-82T>-	3.37:g.142184164delA			Q59HB2|Q7KYL3|Q93051|Q9BXK4	RNA	DEL	-	NULL	ENST00000350721.4	37	NULL	CCDS3124.1	3																																																																																			RP11-383G6.3	-	-	ENSG00000244327		0.244	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000244327	Clone_based_vega_gene	protein_coding	OTTHUMT00000353995.2		0.00	23	0	A	NM_001184		142184164	-1	tier1		no_errors	ENST00000460977	ensembl	human	known	74_37	rna	18.52	22	5	DEL	0.001	-
USP8	9101	genome.wustl.edu	37	15	50789123	50789123	+	Intron	SNP	C	C	G			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.chr15:50789123C>G	ENST00000396444.3	+	18	3233				USP8_ENST00000425032.3_Intron|USP8_ENST00000433963.1_Intron|RP11-562A8.5_ENST00000560159.1_lincRNA|RP11-562A8.4_ENST00000560380.1_RNA|USP8_ENST00000307179.4_Intron	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)		gttcacttgtctatgcttctc	0.463																																																	0																																										SO:0001627	intron_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.2896-163C>G	15.37:g.50789123C>G			B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	RNA	SNP	-	NULL	ENST00000396444.3	37	NULL	CCDS10137.1	15																																																																																			RP11-562A8.5	-	-	ENSG00000259618		0.463	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000259618	Clone_based_vega_gene	protein_coding	OTTHUMT00000254541.1	-	0.00	22	0	C	NM_005154		50789123	-1	tier1	-	no_errors	ENST00000560159	ensembl	human	known	74_37	rna	25.00	21	7	SNP	0.000	G
CRLF3	51379	genome.wustl.edu	37	17	29119437	29119437	+	Intron	SNP	G	G	C			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.chr17:29119437G>C	ENST00000324238.6	-	6	1084				CRLF3_ENST00000577725.1_Intron|CTD-2349P21.9_ENST00000580085.1_lincRNA|CRLF3_ENST00000544695.1_Intron	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3						G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cell growth (GO:0030308)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				AGGCAGGTGAGATGTTTTAAT	0.418																																					Pancreas(30;346 881 29244 33464 41299)												0													94.0	90.0	91.0					17																	29119437		2203	4300	6503	SO:0001627	intron_variant	0			AF120151	CCDS32607.1	17q11.2	2008-05-02				ENSG00000176390			17177	protein-coding gene	gene with protein product		614853					Standard	NM_015986		Approved	CREME9, CYTOR4	uc002hfr.4	Q8IUI8		ENST00000324238.6:c.959+20C>G	17.37:g.29119437G>C			A6NJF3|B2R8C3|Q2MLY7|Q9UNI3|Q9Y6M8	RNA	SNP	-	NULL	ENST00000324238.6	37	NULL	CCDS32607.1	17																																																																																			CTD-2349P21.9	-	-	ENSG00000266490		0.418	CRLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000266490	Clone_based_vega_gene	protein_coding	OTTHUMT00000444354.1	-	0.00	48	0	G			29119437	+1	tier1	-	no_errors	ENST00000580085	ensembl	human	known	74_37	rna	58.33	10	14	SNP	0.000	C
ERMARD	55780	genome.wustl.edu	37	6	170179348	170179348	+	Missense_Mutation	SNP	G	G	T			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													231.0	175.0	194.0					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		0.00	81	0	G	NM_018341		170179348	+1			no_errors	ENST00000366773	ensembl	human	known	74_37	missense	5.26	71	4	SNP	0.000	T
ESCO1	114799	genome.wustl.edu	37	18	19119902	19119902	+	Missense_Mutation	SNP	G	G	T			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													89.0	93.0	92.0					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	-	0.00	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
ESPNL	339768	genome.wustl.edu	37	2	239033966	239033966	+	Missense_Mutation	SNP	C	C	T			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													37.0	33.0	35.0					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		0.00	62	0	C	NM_194312		239033966	+1			no_errors	ENST00000343063	ensembl	human	known	74_37	missense	5.00	57	3	SNP	0.014	T
EXOC4	60412	genome.wustl.edu	37	7	132937888	132937888	+	Missense_Mutation	SNP	A	A	G			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													89.0	90.0	90.0					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	-	0.00	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
FAM13C	220965	genome.wustl.edu	37	10	61012695	61012695	+	Missense_Mutation	SNP	G	G	T			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													186.0	171.0	176.0					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	-	0.00	99	0	G			61012695	-1	tier1	-	no_errors	ENST00000373868	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.945	T
FAT4	79633	genome.wustl.edu	37	4	126408614	126408614	+	Frame_Shift_Del	DEL	A	A	-			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													82.0	83.0	83.0					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		0.00	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	-
FCER2	2208	genome.wustl.edu	37	19	7761792	7761792	+	Missense_Mutation	SNP	C	C	T			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													74.0	56.0	62.0					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	-	0.00	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
FLRT2	23768	genome.wustl.edu	37	14	86092284	86092284	+	3'UTR	SNP	T	T	C			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.chr14:86092284T>C	ENST00000330753.4	+	0	5193					NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2						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)		GAGGTTCCTGTCATTTCTTAT	0.433																																																	0																																										SO:0001624	3_prime_UTR_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.*2443T>C	14.37:g.86092284T>C			A0AV84|B7ZLP3	RNA	SNP	-	NULL	ENST00000330753.4	37	NULL	CCDS9877.1	14																																																																																			FLRT2	-	-	ENSG00000185070		0.433	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT2	HGNC	protein_coding	OTTHUMT00000413193.1	-	0.00	35	0	T			86092284	+1	tier1	-	no_errors	ENST00000553650	ensembl	human	putative	74_37	rna	34.38	21	11	SNP	0.000	C
FPGT	8790	genome.wustl.edu	37	1	74670700	74670700	+	Silent	SNP	C	C	T			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													70.0	71.0	71.0					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		-	0.00	10	0	C			74670700	+1	tier1	-	no_errors	ENST00000370898	ensembl	human	known	74_37	silent	68.75	5	11	SNP	1.000	T
FUS	2521	genome.wustl.edu	37	16	31201636	31201636	+	Silent	SNP	T	T	A	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													151.0	109.0	123.0					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		0.00	59	0	T	NM_004960		31201636	+1			no_errors	ENST00000254108	ensembl	human	known	74_37	silent	12.20	35	5	SNP	0.984	A
GPR141	353345	genome.wustl.edu	37	7	37780495	37780495	+	Missense_Mutation	SNP	T	T	A			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													143.0	134.0	137.0					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	-	0.00	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
GRM3	2913	genome.wustl.edu	37	7	86394478	86394478	+	Missense_Mutation	SNP	G	G	A			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													152.0	154.0	153.0					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	-	0.00	52	0	G			86394478	+1	tier1	-	no_errors	ENST00000361669	ensembl	human	known	74_37	missense	41.46	24	17	SNP	1.000	A
HECTD4	283450	genome.wustl.edu	37	12	112665918	112665918	+	Missense_Mutation	SNP	G	G	A			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													120.0	117.0	118.0					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		-	0.00	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
HIVEP2	3097	genome.wustl.edu	37	6	143091582	143091582	+	Missense_Mutation	SNP	C	C	T			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													87.0	87.0	87.0					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	-	0.00	67	0	C			143091582	-1	tier1	-	no_errors	ENST00000012134	ensembl	human	known	74_37	missense	33.93	37	19	SNP	0.161	T
HKR1	284459	genome.wustl.edu	37	19	37853618	37853618	+	Silent	SNP	G	G	T			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													91.0	84.0	86.0					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		0.00	61	0	G	NM_181786		37853618	+1			no_errors	ENST00000324411	ensembl	human	known	74_37	silent	7.50	37	3	SNP	0.859	T
HLA-B	3106	genome.wustl.edu	37	6	31322279	31322279	+	Missense_Mutation	SNP	T	T	G			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													47.0	51.0	49.0					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	-	0.00	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
HNRNPU	3192	genome.wustl.edu	37	1	245018808	245018808	+	Missense_Mutation	SNP	G	G	A			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													143.0	140.0	141.0					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	-	0.00	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
HTR2C	3358	genome.wustl.edu	37	X	114082577	114082577	+	Missense_Mutation	SNP	C	C	T			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													195.0	159.0	171.0					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	-	0.00	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
IQSEC3	440073	genome.wustl.edu	37	12	235008	235008	+	Missense_Mutation	SNP	C	C	T			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													2.0	4.0	3.0					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		0.00	15	0	C	XM_495902		235008	+1			no_errors	ENST00000326261	ensembl	human	known	74_37	missense	42.86	4	3	SNP	0.841	T
KCND2	3751	genome.wustl.edu	37	7	120385969	120385969	+	Missense_Mutation	SNP	A	A	C			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													146.0	121.0	129.0					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	-	0.00	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
KIF4A	24137	genome.wustl.edu	37	X	69595951	69595951	+	Splice_Site	SNP	T	T	A			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													61.0	57.0	58.0					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	-	0.00	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
KIF5C	3800	genome.wustl.edu	37	2	149850990	149850990	+	Missense_Mutation	SNP	G	G	T	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													37.0	40.0	39.0					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		0.00	23	0	G	NM_004522		149850990	+1			no_errors	ENST00000435030	ensembl	human	known	74_37	missense	11.11	16	2	SNP	1.000	T
KLHDC4	54758	genome.wustl.edu	37	16	87799505	87799505	+	5'UTR	SNP	G	G	T			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.chr16:87799505G>T	ENST00000270583.5	-	0	50				KLHDC4_ENST00000353170.5_5'UTR|KLHDC4_ENST00000347925.5_5'UTR	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4											breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		atcttgccGGGTCCCAAGCCG	0.637																																																	0													31.0	28.0	29.0					16																	87799505		1990	3909	5899	SO:0001623	5_prime_UTR_variant	0			AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731			25272	protein-coding gene	gene with protein product							Standard	NM_001184854		Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.-9C>A	16.37:g.87799505G>T			D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	RNA	SNP	-	NULL	ENST00000270583.5	37	NULL	CCDS10963.1	16																																																																																			KLHDC4	-	-	ENSG00000104731		0.637	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KLHDC4	HGNC	protein_coding	OTTHUMT00000269109.2	-	0.00	13	0	G	NM_017566		87799505	-1	tier1	-	no_errors	ENST00000564484	ensembl	human	known	74_37	rna	46.15	7	6	SNP	0.000	T
KLHL29	114818	genome.wustl.edu	37	2	23926687	23926687	+	Missense_Mutation	SNP	A	A	G			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.chr2:23926687A>G	ENST00000486442.1	+	13	3115	c.2398A>G	c.(2398-2400)Aac>Gac	p.N800D		NM_052920.1	NP_443152.1	Q96CT2	KLH29_HUMAN	kelch-like family member 29	800										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|lung(1)|ovary(3)	10						TGAGAAAGGAAACATTAAGGC	0.582																																																	0													185.0	163.0	169.0					2																	23926687		692	1591	2283	SO:0001583	missense	0				CCDS54335.1	2p23.3	2013-09-27	2013-02-22	2007-01-09	ENSG00000119771	ENSG00000119771		"""Kelch-like"", ""BTB/POZ domain containing"""	29404	protein-coding gene	gene with protein product			"""kelch repeat and BTB (POZ) domain containing 9"", ""kelch-like 29 (Drosophila)"""	KBTBD9		11572484	Standard	NM_052920		Approved	KIAA1921	uc010ykg.2	Q96CT2	OTTHUMG00000151899	ENST00000486442.1:c.2398A>G	2.37:g.23926687A>G	ENSP00000420659:p.Asn800Asp		Q8N388|Q96BF0|Q96PW7	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,pfscan_BTB/POZ-like	p.N800D	ENST00000486442.1	37	c.2398	CCDS54335.1	2	.	.	.	.	.	.	.	.	.	.	A	19.95	3.920931	0.73213	.	.	ENSG00000119771	ENST00000486442	T	0.66099	-0.19	4.82	4.82	0.62117	Galactose oxidase, beta-propeller (1);	0.098174	0.64402	N	0.000002	T	0.40196	0.1107	N	0.08118	0	0.54753	D	0.999985	B	0.29716	0.255	B	0.19666	0.026	T	0.34453	-0.9828	10	0.30854	T	0.27	.	14.7124	0.69244	1.0:0.0:0.0:0.0	.	580	Q96CT2	KLH29_HUMAN	D	800	ENSP00000420659:N800D	ENSP00000420659:N800D	N	+	1	0	KLHL29	23780191	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.274000	0.95731	1.946000	0.56461	0.460000	0.39030	AAC	KLHL29	-	smart_Kelch_1	ENSG00000119771		0.582	KLHL29-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	KLHL29	HGNC	protein_coding	OTTHUMT00000324315.3		0.00	57	0	A	NM_052920		23926687	+1			no_errors	ENST00000486442	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	G
KMT2A	4297	genome.wustl.edu	37	11	118352585	118352585	+	Nonsense_Mutation	SNP	C	C	T			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													97.0	92.0	93.0					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	-	0.00	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
LIMCH1	22998	genome.wustl.edu	37	4	41621412	41621412	+	Missense_Mutation	SNP	G	G	A			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													49.0	51.0	50.0					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	-	0.00	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
LINC00469	283982	genome.wustl.edu	37	17	71819932	71819932	+	lincRNA	SNP	T	T	G			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.chr17:71819932T>G	ENST00000321800.7	-	0	105							Q8N7U9	CQ054_HUMAN	long intergenic non-protein coding RNA 469																		catttctgattgtcacatctg	0.567																																																	0																																												0			AK097638		17q25.1	2012-10-12	2011-08-31	2011-08-31	ENSG00000177338	ENSG00000177338		"""Long non-coding RNAs"""	26863	non-coding RNA	RNA, long non-coding			"""chromosome 17 open reading frame 54"""	C17orf54			Standard	NR_027146		Approved	FLJ40319	uc010dfo.2	Q8N7U9	OTTHUMG00000167833		17.37:g.71819932T>G			Q495E4	RNA	SNP	-	NULL	ENST00000321800.7	37	NULL		17																																																																																			LINC00469	-	-	ENSG00000177338		0.567	LINC00469-001	KNOWN	basic	lincRNA	LINC00469	HGNC	lincRNA	OTTHUMT00000396490.1	-	0.00	74	0	T	NM_182564		71819932	-1	tier1	-	no_errors	ENST00000321800	ensembl	human	known	74_37	rna	34.72	47	25	SNP	0.000	G
DAAM2	23500	genome.wustl.edu	37	6	39854202	39854202	+	Intron	SNP	G	G	T			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.chr6:39854202G>T	ENST00000398904.2	+	16	2135				RP11-61I13.3_ENST00000606829.1_RNA|DAAM2_ENST00000274867.4_Intron|RP11-61I13.3_ENST00000420293.1_RNA|RP11-61I13.3_ENST00000430595.1_RNA|RP11-61I13.3_ENST00000607675.1_RNA|DAAM2_ENST00000538976.1_Intron|RP11-61I13.3_ENST00000607215.1_RNA			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2						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)					CCTAGGAGCTGATAACTAATC	0.512																																																	0																																										SO:0001627	intron_variant	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.1954-1060G>T	6.37:g.39854202G>T			G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	RNA	SNP	-	NULL	ENST00000398904.2	37	NULL	CCDS56426.1	6																																																																																			RP11-61I13.3	-	-	ENSG00000235033		0.512	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	LOC100505635	Clone_based_vega_gene	protein_coding	OTTHUMT00000280648.1	-	0.00	77	0	G			39854202	-1	tier1	-	no_errors	ENST00000607215	ensembl	human	known	74_37	rna	5.19	73	4	SNP	1.000	T
RP11-435B5.5	0	genome.wustl.edu	37	1	143399743	143399743	+	lincRNA	SNP	A	A	G			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.chr1:143399743A>G	ENST00000428624.1	+	0	4990				RP11-435B5.4_ENST00000423249.1_lincRNA																							GCCACTGAGGAAACACAGGTG	0.468																																																	0																																												0																															1.37:g.143399743A>G				RNA	SNP	-	NULL	ENST00000428624.1	37	NULL		1																																																																																			RP11-435B5.5	-	-	ENSG00000238261		0.468	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	LOC101927345	Clone_based_vega_gene	lincRNA	OTTHUMT00000037971.1	-	0.00	16	0	A			143399743	+1	tier1	-	no_errors	ENST00000431700	ensembl	human	known	74_37	rna	50.00	4	4	SNP	0.006	G
POTEG	404785	genome.wustl.edu	37	14	19563232	19563232	+	Intron	SNP	T	T	C	rs572050981	byFrequency	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.chr14:19563232T>C	ENST00000409832.3	+	5	969				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											cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CCCTTCCTTTTAACCTTGGTG	0.368													C|||	234	0.0467252	0.0371	0.0375	5008	,	,		9293	0.0575		0.0646	False		,,,				2504	0.0368																0																																										SO:0001627	intron_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.918-172T>C	14.37:g.19563232T>C			A1L153|A6NMI9|Q6S5H6|Q6S8J2	RNA	SNP	-	NULL	ENST00000409832.3	37	NULL	CCDS32018.1	14																																																																																			CTD-2311B13.5	-	-	ENSG00000258252		0.368	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101929948	Clone_based_vega_gene	protein_coding	OTTHUMT00000408579.1	-	0.00	13	0	T	NM_001005356		19563232	-1	tier1	-	no_errors	ENST00000548748	ensembl	human	known	74_37	rna	57.14	3	4	SNP	0.050	C
LRP1B	53353	genome.wustl.edu	37	2	141625248	141625248	+	Missense_Mutation	SNP	T	T	G			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)											201.0	177.0	185.0					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	-	0.00	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
LRRN4	164312	genome.wustl.edu	37	20	6031506	6031506	+	Missense_Mutation	SNP	C	C	T			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													152.0	142.0	145.0					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	-	0.00	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
LRRTM4	80059	genome.wustl.edu	37	2	76975989	76975989	+	Silent	SNP	G	G	A			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													57.0	57.0	57.0					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	-	0.00	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
LRRTM4	80059	genome.wustl.edu	37	2	77746402	77746402	+	Missense_Mutation	SNP	C	C	T			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													64.0	62.0	63.0					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	-	0.00	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
LRSAM1	90678	genome.wustl.edu	37	9	130265235	130265235	+	3'UTR	SNP	G	G	A	rs549468112	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.chr9:130265235G>A	ENST00000323301.4	+	0	2833				LRSAM1_ENST00000300417.6_3'UTR|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373322.1_3'UTR|LRSAM1_ENST00000373324.4_3'UTR	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1						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						TGTGAGCCCCGGGCTCCTGCT	0.697													G|||	7	0.00139776	0.0008	0.0029	5008	,	,		14655	0.0		0.003	False		,,,				2504	0.001																0																																										SO:0001624	3_prime_UTR_variant	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.*57G>A	9.37:g.130265235G>A			Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	RNA	SNP	-	NULL	ENST00000323301.4	37	NULL	CCDS6873.1	9																																																																																			LRSAM1	-	-	ENSG00000148356		0.697	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRSAM1	HGNC	protein_coding	OTTHUMT00000054164.1	-	0.00	41	0	G	NM_138361		130265235	+1	tier1	-	no_errors	ENST00000483302	ensembl	human	known	74_37	rna	33.33	28	14	SNP	0.040	A
LSP1	4046	genome.wustl.edu	37	11	1901450	1901450	+	Missense_Mutation	SNP	A	A	G			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													64.0	52.0	56.0					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	-	0.00	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
MAGEB5	347541	genome.wustl.edu	37	X	26235915	26235915	+	Missense_Mutation	SNP	A	A	C			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.chrX:26235915A>C	ENST00000602297.1	+	2	744	c.497A>C	c.(496-498)aAg>aCg	p.K166T	MAGEB5_ENST00000379029.2_Missense_Mutation_p.K166T	NM_001271752.1	NP_001258681.1	Q9BZ81	MAGB5_HUMAN	melanoma antigen family B, 5	166	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									lung(1)|ovary(1)	2						GATGGGAAGAAGTACTACATC	0.468																																																	0																																										SO:0001583	missense	0			AF333705	CCDS65233.1	Xp22	2012-04-20			ENSG00000188408	ENSG00000188408			23795	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 3"""	300466				10861452	Standard	NM_001271752		Approved	MAGE-B5, CT3.3	uc031thc.1	Q9BZ81	OTTHUMG00000021288	ENST00000602297.1:c.497A>C	X.37:g.26235915A>C	ENSP00000473493:p.Lys166Thr			Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.K166T	ENST00000602297.1	37	c.497		X	.	.	.	.	.	.	.	.	.	.	A	8.451	0.853162	0.17106	.	.	ENSG00000188408	ENST00000379029	T	0.05649	3.41	4.06	2.89	0.33648	.	0.211412	0.38005	U	0.001851	T	0.12561	0.0305	M	0.75615	2.305	0.09310	N	1	.	.	.	.	.	.	T	0.06807	-1.0806	8	0.66056	D	0.02	.	5.39	0.16240	0.872:0.0:0.128:0.0	.	.	.	.	T	166	ENSP00000368315:K166T	ENSP00000368315:K166T	K	+	2	0	MAGEB5	26145836	0.847000	0.29606	0.008000	0.14137	0.018000	0.09664	0.320000	0.19540	0.704000	0.31869	0.486000	0.48141	AAG	MAGEB5	-	pfam_MAGE,pfscan_MAGE	ENSG00000188408		0.468	MAGEB5-001	KNOWN	basic|appris_principal	protein_coding	MAGEB5	HGNC	protein_coding	OTTHUMT00000056126.2	-	0.00	63	0	A	XM_293407		26235915	+1	tier1	-	no_errors	ENST00000379029	ensembl	human	known	74_37	missense	31.67	41	19	SNP	0.008	C
MAGEE2	139599	genome.wustl.edu	37	X	75004084	75004084	+	Missense_Mutation	SNP	T	T	G			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													63.0	63.0	63.0					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	-	0.00	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
MASP1	5648	genome.wustl.edu	37	3	186980434	186980434	+	Missense_Mutation	SNP	C	C	G			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													82.0	78.0	79.0					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	-	0.00	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
MEOX2	4223	genome.wustl.edu	37	7	15666529	15666529	+	Missense_Mutation	SNP	T	T	G			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													261.0	230.0	241.0					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	-	0.00	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
MRC2	9902	genome.wustl.edu	37	17	60743591	60743591	+	Silent	SNP	C	C	T	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)											40.0	32.0	35.0					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	-	0.00	35	0	C			60743591	+1	tier1	-	no_errors	ENST00000303375	ensembl	human	known	74_37	silent	30.77	18	8	SNP	0.398	T
MT-ND4L	4539	genome.wustl.edu	37	M	10675	10675	+	Missense_Mutation	SNP	G	G	A			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.chrM:10675G>A	ENST00000361335.1	+	1	206	c.206G>A	c.(205-207)tGc>tAc	p.C69Y	MT-TR_ENST00000387439.1_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-TG_ENST00000387429.1_RNA			P03901	NU4LM_HUMAN	mitochondrially encoded NADH dehydrogenase 4L	69					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)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(2)|kidney(2)	5						CTTTGCCGCCTGCGAAGCAGC	0.448																																																	0																																										SO:0001583	missense	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000212907	ENSG00000212907	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7460	protein-coding gene	gene with protein product	"""complex I ND4L subunit"", ""NADH-ubiquinone oxidoreductase chain 4L"""	516004	"""NADH dehydrogenase 4L"""	MTND4L			Standard			Approved	ND4L, NAD4L		P03901		ENST00000361335.1:c.206G>A	M.37:g.10675G>A	ENSP00000354728:p.Cys69Tyr			Missense_Mutation	SNP	pfam_NADH_UbQ_OxRdtase_chain4L/K	p.C69Y	ENST00000361335.1	37	c.206		MT																																																																																			MT-ND4L	-	pfam_NADH_UbQ_OxRdtase_chain4L/K	ENSG00000212907		0.448	MT-ND4L-201	KNOWN	basic|appris_principal	protein_coding	MT-ND4L	HGNC	protein_coding		-	0.00	37	0	G	YP_003024034		10675	+1	tier1	-	no_errors	ENST00000361335	ensembl	human	known	74_37	missense	100.00	0	26	SNP	NULL	A
MVP	9961	genome.wustl.edu	37	16	29857512	29857512	+	Silent	SNP	G	G	A			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	-	0.00	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
MYO15A	51168	genome.wustl.edu	37	17	18036644	18036644	+	Missense_Mutation	SNP	T	T	C			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													52.0	57.0	56.0					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	-	0.00	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
MYO18B	84700	genome.wustl.edu	37	22	26299695	26299695	+	Missense_Mutation	SNP	G	G	T			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													44.0	50.0	48.0					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	-	0.00	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
MYRFL	196446	genome.wustl.edu	37	12	70284933	70284933	+	Frame_Shift_Del	DEL	T	T	-			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.chr12:70284933delT	ENST00000552032.2	+	7	1104	c.890delT	c.(889-891)gttfs	p.V297fs	MYRFL_ENST00000547771.2_Frame_Shift_Del_p.V297fs			Q96LU7	MRFL_HUMAN	myelin regulatory factor-like	297						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TACTTGAAAGTTTTTGGCACT	0.333																																																	0																																										SO:0001589	frameshift_variant	0			AK057785		12q15	2012-12-19	2012-12-19	2012-12-19	ENSG00000166268	ENSG00000166268			26316	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 15"", ""chromosome 12 open reading frame 28"""	C12orf15, C12orf28			Standard	XM_006709961		Approved	FLJ25056, bcm1377		Q96LU7	OTTHUMG00000169438	ENST00000552032.2:c.890delT	12.37:g.70284933delT	ENSP00000448753:p.Val297fs			Frame_Shift_Del	DEL	pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd	p.F298fs	ENST00000552032.2	37	c.890		12																																																																																			MYRFL	-	pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd	ENSG00000166268		0.333	MYRFL-004	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	MYRFL	HGNC	protein_coding	OTTHUMT00000404016.2		0.00	51	0	T	NM_182530		70284933	+1	tier1		no_errors	ENST00000552032	ensembl	human	putative	74_37	frame_shift_del	6.25	30	2	DEL	1.000	-
NAV3	89795	genome.wustl.edu	37	12	78444891	78444891	+	Missense_Mutation	SNP	T	T	C			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													70.0	69.0	70.0					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	-	0.00	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
NBEA	26960	genome.wustl.edu	37	13	35751233	35751233	+	Missense_Mutation	SNP	G	G	A			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													147.0	128.0	134.0					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		-	0.00	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
NCAPD3	23310	genome.wustl.edu	37	11	134078847	134078848	+	Splice_Site	INS	-	-	A	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		0.00	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
NFYB	4801	genome.wustl.edu	37	12	104517094	104517094	+	Silent	SNP	G	G	A			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													136.0	126.0	129.0					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	-	0.00	60	0	G			104517094	-1	tier1	-	no_errors	ENST00000240055	ensembl	human	known	74_37	silent	41.18	10	7	SNP	1.000	A
NR0B1	190	genome.wustl.edu	37	X	30323947	30323947	+	Intron	SNP	A	A	G			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.chrX:30323947A>G	ENST00000378970.4	-	2	1403				NR0B1_ENST00000453287.1_Silent_p.N398N|NR0B1_ENST00000378963.1_Silent_p.N103N	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1						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)	GTTAATGATGATTGCAATCAT	0.333																																																	0													17.0	20.0	19.0					X																	30323947		874	1983	2857	SO:0001627	intron_variant	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.1169-1007T>C	X.37:g.30323947A>G			Q96F69	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Str_hrmn_rcpt	p.N398	ENST00000378970.4	37	c.1194	CCDS14223.1	X																																																																																			NR0B1	-	NULL	ENSG00000169297		0.333	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR0B1	HGNC	protein_coding	OTTHUMT00000056161.1	-	0.00	150	0	A	NM_000475		30323947	-1	tier1	-	no_errors	ENST00000453287	ensembl	human	known	74_37	silent	29.70	71	30	SNP	0.000	G
NRXN1	9378	genome.wustl.edu	37	2	50733692	50733692	+	Missense_Mutation	SNP	C	C	T			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													128.0	127.0	128.0					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		0.00	51	0	C			50733692	-1			no_errors	ENST00000402717	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T
OR10H3	26532	genome.wustl.edu	37	19	15852244	15852244	+	Silent	SNP	C	C	T			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													188.0	176.0	180.0					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	-	0.00	121	0	C			15852244	+1	tier1	-	no_errors	ENST00000305892	ensembl	human	known	74_37	silent	45.90	33	28	SNP	0.107	T
OR13C5	138799	genome.wustl.edu	37	9	107360878	107360878	+	Missense_Mutation	SNP	A	A	C	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)											136.0	126.0	129.0					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	-	0.00	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
OR56B1	387748	genome.wustl.edu	37	11	5757862	5757862	+	Missense_Mutation	SNP	C	C	A			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)											154.0	142.0	146.0					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	-	0.00	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
OR4C12	283093	genome.wustl.edu	37	11	50003542	50003542	+	Missense_Mutation	SNP	A	A	C			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													110.0	114.0	112.0					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	-	0.00	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
P2RY10	27334	genome.wustl.edu	37	X	78216863	78216863	+	Silent	SNP	C	C	T			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													246.0	225.0	232.0					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	-	0.00	78	0	C			78216863	+1	tier1	-	no_errors	ENST00000171757	ensembl	human	known	74_37	silent	28.79	47	19	SNP	0.004	T
PAMR1	25891	genome.wustl.edu	37	11	35515725	35515725	+	Missense_Mutation	SNP	C	C	T			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													227.0	173.0	191.0					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	-	0.00	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
PARK2	5071	genome.wustl.edu	37	6	161990396	161990396	+	Silent	SNP	T	T	C			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													114.0	108.0	110.0					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	-	0.00	25	0	T			161990396	-1	tier1	-	no_errors	ENST00000366898	ensembl	human	known	74_37	silent	47.50	21	19	SNP	1.000	C
PCDH18	54510	genome.wustl.edu	37	4	138442670	138442670	+	Missense_Mutation	SNP	G	G	T			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													106.0	100.0	102.0					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	-	0.00	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
PCDHA9	9752	genome.wustl.edu	37	5	140243029	140243029	+	Intron	SNP	G	G	A			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.chr5:140243029G>A	ENST00000532602.1	+	1	3427				PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA14_ENST00000562220.1_RNA|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|AC005609.1_ENST00000502505.1_5'UTR	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9						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)			GGTCTTACTCGCAGCAAAGGA	0.552																																					Melanoma(55;1800 1972 14909)												0																																										SO:0001627	intron_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.2394+12555G>A	5.37:g.140243029G>A			O15053|Q2M3S5	RNA	SNP	-	NULL	ENST00000532602.1	37	NULL	CCDS54920.1	5																																																																																			PCDHA14	-	-	ENSG00000249504		0.552	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA14	HGNC	protein_coding	OTTHUMT00000372896.2	-	0.00	39	0	G	NM_031857		140243029	+1	tier1	-	no_errors	ENST00000562220	ensembl	human	putative	74_37	rna	29.63	19	8	SNP	0.915	A
PCDHB3	56132	genome.wustl.edu	37	5	140481518	140481519	+	Missense_Mutation	DNP	CC	CC	AA			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	-	0.00	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
PCLO	27445	genome.wustl.edu	37	7	82784982	82784982	+	Missense_Mutation	SNP	C	C	G			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													55.0	51.0	52.0					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	-	0.00	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
PCM1	5108	genome.wustl.edu	37	8	17814238	17814238	+	Nonsense_Mutation	SNP	C	C	G			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													52.0	52.0	52.0					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	-	0.00	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
PORCN	64840	genome.wustl.edu	37	X	48368281	48368281	+	Missense_Mutation	SNP	G	G	A	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													65.0	55.0	59.0					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	-	0.00	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
PLXNB3	5365	genome.wustl.edu	37	X	153033156	153033156	+	Missense_Mutation	SNP	G	G	A			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													12.0	11.0	12.0					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		0.00	9	0	G			153033156	+1			no_errors	ENST00000538966	ensembl	human	known	74_37	missense	75.00	1	3	SNP	0.434	A
PPARGC1A	10891	genome.wustl.edu	37	4	23831179	23831179	+	Missense_Mutation	SNP	G	G	T			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													144.0	133.0	137.0					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	-	0.00	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
PPP1R12A	4659	genome.wustl.edu	37	12	80201093	80201093	+	Missense_Mutation	SNP	C	C	T	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	85.0	72.0	76.0		1568,1307,1568	4.5	1.0	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	-	0.00	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
PPP1R13B	23368	genome.wustl.edu	37	14	104251168	104251168	+	Nonsense_Mutation	SNP	G	G	A			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)											84.0	80.0	81.0					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	-	0.00	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
PRKAR2B	5577	genome.wustl.edu	37	7	106791394	106791394	+	Missense_Mutation	SNP	G	G	T			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													69.0	71.0	70.0					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	-	0.00	35	0	G			106791394	+1	tier1	-	no_errors	ENST00000265717	ensembl	human	known	74_37	missense	29.17	17	7	SNP	1.000	T
PROL1	58503	genome.wustl.edu	37	4	71275215	71275215	+	Missense_Mutation	SNP	T	T	G			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													215.0	206.0	209.0					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	-	0.00	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
PSTPIP1	9051	genome.wustl.edu	37	15	77320223	77320223	+	Missense_Mutation	SNP	A	A	T			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													21.0	26.0	24.0					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	-	0.00	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
PTPRS	5802	genome.wustl.edu	37	19	5220288	5220288	+	Missense_Mutation	SNP	C	C	T			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													49.0	47.0	48.0					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	-	0.00	54	0	C			5220288	-1	tier1	-	no_errors	ENST00000372412	ensembl	human	known	74_37	missense	55.56	16	20	SNP	1.000	T
PXDNL	137902	genome.wustl.edu	37	8	52323850	52323850	+	Missense_Mutation	SNP	T	T	G			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													59.0	60.0	60.0					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	-	0.00	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
RABGAP1	23637	genome.wustl.edu	37	9	125827753	125827753	+	Intron	DEL	A	A	-	rs3214358		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.chr9:125827753delA	ENST00000373647.4	+	14	2042				RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373643.5_Intron	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1						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						ATTTCATGTCAAAAAAAAAAA	0.343																																																	0													36.0	38.0	37.0					9																	125827753		2203	4300	6503	SO:0001627	intron_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.1908+13A>-	9.37:g.125827753delA			B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Frame_Shift_Del	DEL	pfam_Kinesin-like,pfam_Rab-GTPase-TBC_dom,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom	p.K576fs	ENST00000373647.4	37	c.1717	CCDS6848.2	9																																																																																			RABGAP1	-	pfscan_Rab-GTPase-TBC_dom	ENSG00000011454		0.343	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGAP1	HGNC	protein_coding	OTTHUMT00000053976.3		0.00	32	0	A	NM_012197		125827753	+1	tier1		no_errors	ENST00000456584	ensembl	human	known	74_37	frame_shift_del	12.50	21	3	DEL	0.000	-
RB1CC1	9821	genome.wustl.edu	37	8	53586543	53586543	+	Silent	SNP	C	C	T			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													190.0	171.0	178.0					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	-	0.00	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
RERG	85004	genome.wustl.edu	37	12	15370380	15370380	+	Missense_Mutation	SNP	G	G	A			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													289.0	239.0	256.0					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	-	0.00	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
REXO4	57109	genome.wustl.edu	37	9	136282883	136282883	+	Silent	SNP	G	G	T			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													79.0	87.0	84.0					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		0.00	51	0	G			136282883	-1			no_errors	ENST00000371942	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.277	T
RHCG	51458	genome.wustl.edu	37	15	90021169	90021169	+	Missense_Mutation	SNP	C	C	T			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													56.0	54.0	55.0					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	-	0.00	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
CD81-AS1	101927682	genome.wustl.edu	37	11	2356961	2356961	+	RNA	SNP	C	C	T	rs550965880		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.chr11:2356961C>T	ENST00000413483.1	-	0	407				RPL26P30_ENST00000602923.1_RNA																							TCCGAGGTAACGAAGGGATTG	0.512													-|||	1	0.000199681	0.0008	0.0	5008	,	,		21577	0.0		0.0	False		,,,				2504	0.0																0													191.0	168.0	176.0					11																	2356961		2202	4299	6501			0																															11.37:g.2356961C>T				RNA	SNP	-	NULL	ENST00000413483.1	37	NULL		11																																																																																			RPL26P30	-	-	ENSG00000236264		0.512	AC129929.5-002	KNOWN	basic	antisense	RPL26P30	HGNC	processed_transcript	OTTHUMT00000143277.1	-	0.00	91	0	C			2356961	-1	tier1	-	no_errors	ENST00000602923	ensembl	human	known	74_37	rna	72.73	12	32	SNP	0.998	T
RPRD2	23248	genome.wustl.edu	37	1	150444985	150444985	+	Missense_Mutation	SNP	C	C	G			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													116.0	113.0	114.0					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	-	0.00	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
SACS	26278	genome.wustl.edu	37	13	23911144	23911144	+	Missense_Mutation	SNP	C	C	A			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													71.0	68.0	69.0					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	-	0.00	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
SALL1	6299	genome.wustl.edu	37	16	51171261	51171261	+	Missense_Mutation	SNP	G	G	A			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													79.0	71.0	74.0					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	-	0.00	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
SDK1	221935	genome.wustl.edu	37	7	4188991	4188991	+	Silent	SNP	C	C	A	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													32.0	31.0	31.0					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	-	0.00	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
SELE	6401	genome.wustl.edu	37	1	169702094	169702094	+	Missense_Mutation	SNP	G	G	A	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	111.0	104.0	106.0		83	-0.7	0.0	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	-	0.00	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
CIB1	10519	genome.wustl.edu	37	15	90771824	90771824	+	IGR	SNP	C	C	T			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)											32.0	38.0	36.0					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		0.00	53	0	C			90771824	+1			no_errors	ENST00000332496	ensembl	human	known	74_37	silent	5.77	49	3	SNP	1.000	T
SEPT6	23157	genome.wustl.edu	37	X	118767380	118767380	+	Missense_Mutation	SNP	C	C	A			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													286.0	270.0	275.0					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	-	0.00	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
SERPINA12	145264	genome.wustl.edu	37	14	94964544	94964544	+	Missense_Mutation	SNP	G	G	A			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													138.0	124.0	128.0					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	-	0.00	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
SH2B3	10019	genome.wustl.edu	37	12	111884777	111884777	+	Missense_Mutation	SNP	T	T	C			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													92.0	80.0	84.0					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	-	0.00	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
SLAMF1	6504	genome.wustl.edu	37	1	160589583	160589583	+	Missense_Mutation	SNP	G	G	C			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													257.0	256.0	256.0					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	-	0.00	134	0	G			160589583	-1	tier1	-	no_errors	ENST00000302035	ensembl	human	known	74_37	missense	52.42	59	65	SNP	1.000	C
SLC38A5	92745	genome.wustl.edu	37	X	48324664	48324664	+	Missense_Mutation	SNP	G	G	T			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													36.0	30.0	32.0					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	-	0.00	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
SLC4A10	57282	genome.wustl.edu	37	2	162567135	162567135	+	Intron	SNP	T	T	G			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.chr2:162567135T>G	ENST00000446997.1	+	2	141				SLC4A10_ENST00000535165.1_Intron|SLC4A10_ENST00000375514.5_Intron|SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000415876.2_Intron|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000272716.5_Intron	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10						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)	CAGGATAATCTTGATCTTTGG	0.318																																																	0																																										SO:0001627	intron_variant	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.49-60348T>G	2.37:g.162567135T>G			B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	RNA	SNP	-	NULL	ENST00000446997.1	37	NULL	CCDS54411.1	2																																																																																			SLC4A10	-	-	ENSG00000144290		0.318	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A10	HGNC	protein_coding	OTTHUMT00000333090.1	-	0.00	73	0	T	NM_022058		162567135	+1	tier1	-	no_errors	ENST00000481721	ensembl	human	known	74_37	rna	35.59	38	21	SNP	0.793	G
SLC4A4	8671	genome.wustl.edu	37	4	72120957	72120957	+	Missense_Mutation	SNP	G	G	A	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	0.0	5008	,	,		19537	0.001		0.0	False		,,,				2504	0.0																0								G	ARG/GLY,ARG/GLY	0,3926		0,0,1963	180.0	179.0	180.0		94,94	5.5	1.0	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	-	0.00	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
SNED1	25992	genome.wustl.edu	37	2	241991277	241991277	+	Splice_Site	SNP	G	G	A			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													9.0	12.0	11.0					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	-	0.00	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
TDRD10	126668	genome.wustl.edu	37	1	154515285	154515285	+	Missense_Mutation	SNP	C	C	T			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)											90.0	80.0	83.0					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	-	0.00	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
TDRD15	100129278	genome.wustl.edu	37	2	21363718	21363718	+	Missense_Mutation	SNP	G	G	A			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.chr2:21363718G>A	ENST00000405799.1	+	4	3709	c.3379G>A	c.(3379-3381)Gga>Aga	p.G1127R				B5MCY1	TDR15_HUMAN	tudor domain containing 15	1127							hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)										ATTGTATGATGGATCTCAATA	0.333																																																	0																																										SO:0001583	missense	0					2p24.1	2013-01-23	2013-01-23	2013-01-23	ENSG00000218819	ENSG00000218819		"""Tudor domain containing"""	45037	protein-coding gene	gene with protein product							Standard	XR_425376		Approved			B5MCY1	OTTHUMG00000151795	ENST00000405799.1:c.3379G>A	2.37:g.21363718G>A	ENSP00000384376:p.Gly1127Arg			Missense_Mutation	SNP	pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor	p.G1127R	ENST00000405799.1	37	c.3379		2	.	.	.	.	.	.	.	.	.	.	G	14.27	2.484222	0.44147	.	.	ENSG00000218819	ENST00000405799	T	0.23552	1.9	5.39	5.39	0.77823	.	.	.	.	.	T	0.24586	0.0596	.	.	.	.	.	.	.	.	.	.	.	.	T	0.19976	-1.0289	5	0.15499	T	0.54	-7.7539	12.1315	0.53946	0.1233:0.0:0.8767:0.0	.	.	.	.	R	1127	ENSP00000384376:G1127R	ENSP00000384376:G1127R	G	+	1	0	AC010872.2	21217223	1.000000	0.71417	0.993000	0.49108	0.887000	0.51463	5.269000	0.65542	2.535000	0.85469	0.467000	0.42956	GGA	TDRD15	-	NULL	ENSG00000218819		0.333	TDRD15-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	TDRD15	HGNC	protein_coding	OTTHUMT00000323948.1	-	0.00	32	0	G			21363718	+1	tier1	-	no_errors	ENST00000405799	ensembl	human	novel	74_37	missense	40.00	15	10	SNP	1.000	A
TECPR2	9895	genome.wustl.edu	37	14	102964034	102964034	+	Silent	SNP	C	C	T			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													10.0	13.0	12.0					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		0.00	14	0	C	NM_014844		102964034	+1			no_errors	ENST00000359520	ensembl	human	known	74_37	silent	8.00	23	2	SNP	0.351	T
TG	7038	genome.wustl.edu	37	8	133981759	133981759	+	Missense_Mutation	SNP	A	A	T			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													103.0	114.0	110.0					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	-	0.00	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
THAP11	57215	genome.wustl.edu	37	16	67876687	67876687	+	Missense_Mutation	SNP	C	C	T			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													28.0	26.0	27.0					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	-	0.00	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
TKTL1	8277	genome.wustl.edu	37	X	153543622	153543622	+	Missense_Mutation	SNP	T	T	A			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													183.0	144.0	157.0					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	-	0.00	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
TMCO5B	100652857	genome.wustl.edu	37	15	33528802	33528802	+	RNA	SNP	T	T	C			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.chr15:33528802T>C	ENST00000529696.1	-	0	518							A8MYB1	TMC5B_HUMAN	transmembrane and coiled-coil domains 5B, pseudogene							integral component of membrane (GO:0016021)											TACCAACACCTTCTCTCCTGT	0.428																																																	0																																												0					15q13.3	2013-09-26	2010-09-29		ENSG00000215296	ENSG00000215296			34243	pseudogene	pseudogene			"""transmembrane and coiled-coil domains 5B"""				Standard	NR_046005		Approved		uc031qri.1	A8MYB1	OTTHUMG00000167569		15.37:g.33528802T>C				RNA	SNP	-	NULL	ENST00000529696.1	37	NULL		15																																																																																			TMCO5B	-	-	ENSG00000215296		0.428	TMCO5B-001	KNOWN	basic	processed_transcript	TMCO5B	HGNC	pseudogene	OTTHUMT00000395082.1	-	0.00	77	0	T			33528802	-1	tier1	-	no_errors	ENST00000529696	ensembl	human	known	74_37	rna	35.21	46	25	SNP	0.015	C
TP53	7157	genome.wustl.edu	37	17	7577563	7577563	+	Missense_Mutation	SNP	T	T	A	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)											137.0	106.0	117.0					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		0.00	313	0	T	NM_000546		7577563	-1			no_errors	ENST00000269305	ensembl	human	known	74_37	missense	13.89	93	15	SNP	1.000	A
TPTE2P2	644623	genome.wustl.edu	37	13	52795752	52795752	+	RNA	SNP	A	A	G			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.chr13:52795752A>G	ENST00000451298.1	-	0	1229				TPTE2P2_ENST00000606973.1_RNA																							ATGGTGGCTCAAGGATTTTTT	0.373																																																	0																																												0																															13.37:g.52795752A>G				RNA	SNP	-	NULL	ENST00000451298.1	37	NULL		13																																																																																			TPTE2P2	-	-	ENSG00000272281		0.373	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	TPTE2P2	HGNC	processed_transcript	OTTHUMT00000471093.1		0.00	36	0	A			52795752	-1			no_errors	ENST00000606973	ensembl	human	known	74_37	rna	13.16	33	5	SNP	0.005	G
UBE2D1	7321	genome.wustl.edu	37	10	60121256	60121256	+	Splice_Site	SNP	G	G	T			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													95.0	95.0	95.0					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		0.00	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
CFAP46	54777	genome.wustl.edu	37	10	134682830	134682830	+	Missense_Mutation	SNP	G	G	A			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.chr10:134682830G>A	ENST00000368586.5	-	33	4658	c.4558C>T	c.(4558-4560)Cgc>Tgc	p.R1520C		NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TCTTCATGGCGCGCGGCTGCT	0.682																																																	0																																										SO:0001583	missense	0																														ENST00000368586.5:c.4558C>T	10.37:g.134682830G>A	ENSP00000357575:p.Arg1520Cys			Missense_Mutation	SNP	NULL	p.R1520C	ENST00000368586.5	37	c.4558	CCDS58101.1	10	.	.	.	.	.	.	.	.	.	.	G	9.584	1.124377	0.20959	.	.	ENSG00000171811	ENST00000368586	T	0.09817	2.94	4.81	-5.69	0.02428	.	.	.	.	.	T	0.09949	0.0244	.	.	.	0.09310	N	0.99999	.	.	.	.	.	.	T	0.27806	-1.0063	6	0.46703	T	0.11	.	7.5507	0.27796	0.3514:0.0:0.5173:0.1313	.	.	.	.	C	1520	ENSP00000357575:R1520C	ENSP00000357575:R1520C	R	-	1	0	C10orf93	134532820	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.820000	0.04457	-1.615000	0.01573	-0.469000	0.05056	CGC	TTC40	-	NULL	ENSG00000171811		0.682	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TTC40	HGNC	protein_coding	OTTHUMT00000051095.3	-	0.00	24	0	G			134682830	-1	tier1	-	no_errors	ENST00000368586	ensembl	human	putative	74_37	missense	37.93	18	11	SNP	0.000	A
UNC13C	440279	genome.wustl.edu	37	15	54305554	54305554	+	Missense_Mutation	SNP	C	C	T	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	0.0	5008	,	,		20857	0.0		0.0	False		,,,				2504	0.001																2	Substitution - Missense(2)	large_intestine(2)											87.0	87.0	87.0					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	-	0.00	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
VGLL1	51442	genome.wustl.edu	37	X	135632827	135632827	+	Intron	SNP	T	T	G			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:135632827T>G	ENST00000370634.3	+	4	804				MIR934_ENST00000401241.1_RNA|VGLL1_ENST00000470358.1_3'UTR	NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial-like family member 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					ATTCATAAACTTAGGGCCAGG	0.413																																																	0																																										SO:0001627	intron_variant	0			AF137387	CCDS14658.1	Xq26.3	2014-03-03	2014-03-03		ENSG00000102243	ENSG00000102243			20985	protein-coding gene	gene with protein product		300583	"""vestigial like 1 (Drosophila)"""			10518497	Standard	NM_016267		Approved	TONDU, TDU	uc004ezy.3	Q99990	OTTHUMG00000022509	ENST00000370634.3:c.635-100T>G	X.37:g.135632827T>G			Q5H915	RNA	SNP	-	NULL	ENST00000370634.3	37	NULL	CCDS14658.1	X																																																																																			VGLL1	-	-	ENSG00000102243		0.413	VGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VGLL1	HGNC	protein_coding	OTTHUMT00000058493.1	-	0.00	40	0	T	NM_016267		135632827	+1	tier1	-	no_errors	ENST00000470358	ensembl	human	known	74_37	rna	36.36	14	8	SNP	0.000	G
WEE2	494551	genome.wustl.edu	37	7	141427103	141427103	+	Splice_Site	SNP	G	G	A			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													128.0	125.0	126.0					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	-	0.00	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
WFIKKN1	117166	genome.wustl.edu	37	16	682590	682590	+	Silent	SNP	G	G	A	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	0.0	5008	,	,		15364	0.001		0.0	False		,,,				2504	0.0																0													23.0	24.0	24.0					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	-	0.00	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
WNT3	7473	genome.wustl.edu	37	17	44851047	44851047	+	Silent	SNP	G	G	A			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													29.0	32.0	31.0					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	-	0.00	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
WNT3	7473	genome.wustl.edu	37	17	44851241	44851241	+	Missense_Mutation	SNP	C	C	A			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													31.0	31.0	31.0					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	-	0.00	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
WNT7B	7477	genome.wustl.edu	37	22	46326986	46326986	+	Missense_Mutation	SNP	C	C	T			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													24.0	24.0	24.0					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	-	0.00	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
XIRP2	129446	genome.wustl.edu	37	2	168107319	168107319	+	Silent	SNP	C	C	T	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													79.0	76.0	77.0					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	-	0.00	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
XPO7	23039	genome.wustl.edu	37	8	21840253	21840253	+	Nonsense_Mutation	SNP	G	G	T			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													150.0	148.0	149.0					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	-	0.00	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
ZBTB11	27107	genome.wustl.edu	37	3	101370141	101370141	+	Missense_Mutation	SNP	G	G	A			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													149.0	139.0	142.0					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	-	0.00	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
ZDHHC11	79844	genome.wustl.edu	37	5	710914	710914	+	Intron	SNP	T	T	A	rs374638240		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.chr5:710914T>A	ENST00000424784.2	-	14	2007				ZDHHC11B_ENST00000522356.1_5'UTR			Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11							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)			TGTGCTCCCATTTCCGAATAC	0.512																																																	0																																										SO:0001627	intron_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	ENST00000424784.2:c.1236+9A>T	5.37:g.710914T>A			Q6UWR9	RNA	SNP	-	NULL	ENST00000424784.2	37	NULL	CCDS3857.1	5																																																																																			ZDHHC11B	-	-	ENSG00000206077		0.512	ZDHHC11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC11B	HGNC	protein_coding		-	0.00	76	0	T	NM_024786		710914	-1	tier1	-	no_errors	ENST00000522356	ensembl	human	known	74_37	rna	6.25	90	6	SNP	0.006	A
ZDHHC11	79844	genome.wustl.edu	37	5	710944	710944	+	3'UTR	SNP	A	A	G	rs375635165		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.chr5:710944A>G	ENST00000424784.2	-	0	1986				ZDHHC11B_ENST00000522356.1_5'UTR			Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11							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)			ATTTCCCAGTACTGTGAGCTC	0.512																																																	0																																										SO:0001624	3_prime_UTR_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	ENST00000424784.2:c.*745T>C	5.37:g.710944A>G			Q6UWR9	RNA	SNP	-	NULL	ENST00000424784.2	37	NULL	CCDS3857.1	5																																																																																			ZDHHC11B	-	-	ENSG00000206077		0.512	ZDHHC11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC11B	HGNC	protein_coding		-	0.00	77	0	A	NM_024786		710944	-1	tier1	-	no_errors	ENST00000522356	ensembl	human	known	74_37	rna	6.80	95	7	SNP	0.078	G
ZFR2	23217	genome.wustl.edu	37	19	3810782	3810782	+	Missense_Mutation	SNP	C	C	T			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													4.0	7.0	6.0					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	-	0.00	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
ZIC4	84107	genome.wustl.edu	37	3	147105931	147105931	+	3'UTR	SNP	C	C	T			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.chr3:147105931C>T	ENST00000383075.3	-	0	2232				ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000425731.3_3'UTR|ZIC4-AS1_ENST00000462168.1_RNA|ZIC4_ENST00000525172.2_3'UTR	NM_032153.5	NP_115529.2	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						TACTGGAGAGCGCAGTGACAG	0.512																																																	0																																										SO:0001624	3_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	ENST00000383075.3:c.*715G>A	3.37:g.147105931C>T			A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	RNA	SNP	-	NULL	ENST00000383075.3	37	NULL	CCDS43160.1	3																																																																																			ZIC4	-	-	ENSG00000174963		0.512	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC4	HGNC	protein_coding	OTTHUMT00000355504.1	-	0.00	21	0	C			147105931	-1	tier1	-	no_errors	ENST00000472749	ensembl	human	known	74_37	rna	37.50	10	6	SNP	0.999	T
ZNF568	374900	genome.wustl.edu	37	19	37482690	37482690	+	Silent	SNP	G	G	A			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.chr19:37482690G>A	ENST00000455427.2	+	8	704	c.375G>A	c.(373-375)ttG>ttA	p.L125L		NM_001204839.1	NP_001191768.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	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)			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)			TCTCCTTATTGGAGCAGAAGA	0.453																																																	0																																										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	ENST00000455427.2:c.375G>A	19.37:g.37482690G>A			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.L125	ENST00000455427.2	37	c.375	CCDS56093.1	19																																																																																			ZNF568	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000198453		0.453	ZNF568-007	KNOWN	basic|CCDS	protein_coding	ZNF568	HGNC	protein_coding	OTTHUMT00000457465.1	-	0.00	49	0	G	NM_198539		37482690	+1	tier1	-	no_errors	ENST00000455427	ensembl	human	known	74_37	silent	44.44	20	16	SNP	0.997	A
ZNF850	342892	genome.wustl.edu	37	19	37239131	37239131	+	Silent	SNP	G	G	A			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.chr19:37239131G>A	ENST00000591344.1	-	5	2969	c.2811C>T	c.(2809-2811)ttC>ttT	p.F937F	ZNF850_ENST00000589390.1_Intron	NM_001193552.1|NM_001267779.1	NP_001180481.1|NP_001254708.1	A8MQ14	ZN850_HUMAN	zinc finger protein 850	937					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TGAGTCCTGAGAAACGGACAA	0.438																																																	0																																										SO:0001819	synonymous_variant	0			BC052603	CCDS59379.1, CCDS74350.1	19q13.12	2013-01-08	2010-08-02	2010-08-02		ENSG00000267041		"""Zinc fingers, C2H2-type"", ""-"""	27994	protein-coding gene	gene with protein product			"""zinc finger protein 850 pseudogene"", ""zinc finger protein 850 (pseudogene)"""	ZNF850P		12477932	Standard	NM_001193552		Approved		uc010efc.3	A8MQ14		ENST00000591344.1:c.2811C>T	19.37:g.37239131G>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.F937	ENST00000591344.1	37	c.2811	CCDS59379.1	19																																																																																			ZNF850	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000267041		0.438	ZNF850-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF850	HGNC	protein_coding	OTTHUMT00000453557.1	-	0.00	100	0	G	XM_001720258		37239131	-1	tier1	-	no_errors	ENST00000591344	ensembl	human	known	74_37	silent	43.48	26	20	SNP	0.000	A
ZNF880	400713	genome.wustl.edu	37	19	52888071	52888071	+	Missense_Mutation	SNP	G	G	T	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													79.0	73.0	75.0					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	-	0.00	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
ZNF808	388558	genome.wustl.edu	37	19	53058029	53058029	+	Silent	SNP	G	G	A			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													52.0	56.0	55.0					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	-	0.00	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
