#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_EVS_AA	i_EVS_All	i_EVS_EA	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_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_WU	i_deletion_substructures_WU	i_domain_WU	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ACOT2	10965	genome.wustl.edu	37	14	74042189	74042189	+	Missense_Mutation	SNP	A	A	G	rs7494	byFrequency	TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr14:74042189A>G	ENST00000238651.5	+	3	1606	c.1424A>G	c.(1423-1425)cAc>cGc	p.H475R	ACOT2_ENST00000538782.1_Missense_Mutation_p.H278R	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	475			H -> R (in dbSNP:rs7494). {ECO:0000269|PubMed:10944470, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.4}.		acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		TTGGGTGGCCACGAGGGGACA	0.478																																						dbGAP											0													26.0	35.0	32.0					14																	74042189		1878	3779	5657	-	-	-	SO:0001583	missense	0			AY005822, AK001939	CCDS9816.1	14q24.3	2013-09-20			ENSG00000119673	ENSG00000119673		"""Acyl CoA thioesterases"""	18431	protein-coding gene	gene with protein product	"""mitochondrial acyl-CoA thioesterase 1"""	609972				16103133, 16940157	Standard	NM_006821		Approved	Mte1, ZAP128	uc001xon.5	P49753	OTTHUMG00000171608	ENST00000238651.5:c.1424A>G	14.37:g.74042189A>G	ENSP00000238651:p.His475Arg		Q3I5F8|Q53EK4|Q9NUX4	Missense_Mutation	SNP	pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain	p.H475R	ENST00000238651.5	37	c.1424	CCDS9816.1	14	950	0.434981684981685	109	0.22154471544715448	160	0.4419889502762431	459	0.8024475524475524	222	0.2928759894459103	A	4.955	0.177425	0.09443	.	.	ENSG00000119673	ENST00000538782;ENST00000238651	T;T	0.39406	2.36;1.08	3.47	0.9	0.19278	.	1.633630	0.03548	N	0.225068	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.04013	0.0;0.001;0.001	T	0.37197	-0.9716	9	0.17832	T	0.49	10.0461	2.9076	0.05726	0.6566:0.0:0.1285:0.2148	rs7494;rs3174638;rs3742820	413;475;278	E9KL42;P49753;B3KSA0	.;ACOT2_HUMAN;.	R	278;475	ENSP00000440961:H278R;ENSP00000238651:H475R	ENSP00000238651:H475R	H	+	2	0	ACOT2	73111942	0.000000	0.05858	0.003000	0.11579	0.104000	0.19210	-0.054000	0.11826	-0.144000	0.11314	-0.558000	0.04189	CAC	ACOT2	-	pirsf_Acyl-CoA_thioEstase_long-chain	ENSG00000119673		0.478	ACOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT2	HGNC	protein_coding	OTTHUMT00000414435.1	9	0.00	0	A	NM_006821		74042189	74042189	+1	no_errors	ENST00000238651	ensembl	human	known	69_37n	missense	8	46.67	7	SNP	0.000	G
GGT7	2686	genome.wustl.edu	37	20	33462890	33462890	+	5'Flank	SNP	G	G	A	rs568465578		TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr20:33462890G>A	ENST00000336431.5	-	0	0				ACSS2_ENST00000360596.2_5'Flank|ACSS2_ENST00000336325.4_5'Flank|ACSS2_ENST00000253382.5_5'Flank	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TGCCTTGACAGCCAGTCTGTG	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		18283	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													139.0	137.0	138.0					20																	33462890		1989	4185	6174	-	-	-	SO:0001631	upstream_gene_variant	0			AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314		20.37:g.33462890G>A	Exception_encountered		Q8N899|Q8NF66|Q9BYP5|Q9BYP6	RNA	SNP	-	NULL	ENST00000336431.5	37	NULL	CCDS13242.2	20																																																																																			ACSS2	-	-	ENSG00000131069		0.542	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ACSS2	HGNC	protein_coding	OTTHUMT00000078816.2	34	0.00	0	G	NM_178026		33462890	33462890	+1	no_errors	ENST00000461051	ensembl	human	known	69_37n	rna	31	32.61	15	SNP	0.012	A
ACTG1	71	genome.wustl.edu	37	17	79479050	79479050	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr17:79479050T>C	ENST00000575842.1	-	2	668	c.242A>G	c.(241-243)gAc>gGc	p.D81G	RP13-766D20.2_ENST00000430912.1_RNA|ACTG1_ENST00000575087.1_Missense_Mutation_p.D81G|ACTG1_ENST00000331925.2_Missense_Mutation_p.D81G|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000573283.1_Missense_Mutation_p.D81G			P63261	ACTG_HUMAN	actin, gamma 1	81					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CTTCTCCATGTCGTCCCAGTT	0.637																																						dbGAP											0													69.0	69.0	69.0					17																	79479050		2203	4298	6501	-	-	-	SO:0001583	missense	0				CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"""deafness, autosomal dominant 20; deafness, autosomal dominant 26"""	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.242A>G	17.37:g.79479050T>C	ENSP00000458162:p.Asp81Gly		A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.D81G	ENST00000575842.1	37	c.242	CCDS11782.1	17	.	.	.	.	.	.	.	.	.	.	T	13.11	2.139980	0.37728	.	.	ENSG00000184009	ENST00000331925;ENST00000447294	D	0.97256	-4.31	3.99	3.99	0.46301	.	0.000000	0.85682	D	0.000000	D	0.98704	0.9565	H	0.94222	3.51	0.52501	D	0.999958	D	0.71674	0.998	D	0.87578	0.998	D	0.99331	1.0909	10	0.87932	D	0	.	12.0342	0.53415	0.0:0.0:0.0:1.0	.	81	P63261	ACTG_HUMAN	G	81	ENSP00000331514:D81G	ENSP00000331514:D81G	D	-	2	0	ACTG1	77093645	1.000000	0.71417	0.999000	0.59377	0.322000	0.28314	7.431000	0.80335	1.681000	0.50988	0.460000	0.39030	GAC	ACTG1	-	pfam_Actin-like,smart_Actin-like,prints_Actin-like	ENSG00000184009		0.637	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACTG1	HGNC	protein_coding	OTTHUMT00000439935.2	37	0.00	0	T	NM_001614		79479050	79479050	-1	no_errors	ENST00000331925	ensembl	human	known	69_37n	missense	60	21.05	16	SNP	1.000	C
ATF5	22809	genome.wustl.edu	37	19	50436280	50436280	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr19:50436280G>C	ENST00000423777.2	+	3	1157	c.780G>C	c.(778-780)gaG>gaC	p.E260D	CTC-326K19.6_ENST00000451973.1_Intron|MIR4751_ENST00000578027.1_RNA|ATF5_ENST00000595125.1_Missense_Mutation_p.E260D	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	260	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|olfactory bulb interneuron development (GO:0021891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|transcription corepressor activity (GO:0003714)			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	Pseudoephedrine(DB00852)	TGGAGCGCGAGATCCAGTACG	0.657																																					GBM(48;768 989 9196 9511 26329)	dbGAP											0													37.0	41.0	40.0					19																	50436280		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF101388	CCDS12789.1	19q13.33	2013-09-20			ENSG00000169136	ENSG00000169136		"""basic leucine zipper proteins"""	790	protein-coding gene	gene with protein product		606398				10373550	Standard	NM_012068		Approved		uc002prd.3	Q9Y2D1	OTTHUMG00000183065	ENST00000423777.2:c.780G>C	19.37:g.50436280G>C	ENSP00000396954:p.Glu260Asp		B3KND3|Q9BSA1|Q9UNQ3	Missense_Mutation	SNP	pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pfscan_bZIP	p.E260D	ENST00000423777.2	37	c.780	CCDS12789.1	19	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757159	0.69648	.	.	ENSG00000169136	ENST00000423777	T	0.57752	0.38	4.54	2.41	0.29592	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	T	0.70824	0.3268	M	0.86864	2.845	0.45354	D	0.998349	D	0.89917	1.0	D	0.91635	0.999	T	0.69617	-0.5097	10	0.87932	D	0	-14.7694	6.5881	0.22632	0.3024:0.0:0.6976:0.0	.	260	Q9Y2D1	ATF5_HUMAN	D	260	ENSP00000396954:E260D	ENSP00000396954:E260D	E	+	3	2	ATF5	55128092	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	2.435000	0.44811	0.377000	0.24735	0.448000	0.29417	GAG	ATF5	-	pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pfscan_bZIP	ENSG00000169136		0.657	ATF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATF5	HGNC	protein_coding	OTTHUMT00000464915.2	46	0.00	0	G			50436280	50436280	+1	no_errors	ENST00000423777	ensembl	human	known	69_37n	missense	42	25.00	14	SNP	1.000	C
ATL1	51062	genome.wustl.edu	37	14	51057793	51057793	+	Splice_Site	SNP	G	G	T			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr14:51057793G>T	ENST00000358385.6	+	3	658	c.417G>T	c.(415-417)aaG>aaT	p.K139N	ATL1_ENST00000441560.2_Splice_Site_p.K139N|ATL1_ENST00000354525.4_Splice_Site_p.K139N|ATL1_ENST00000357032.3_Splice_Site_p.K139N	NM_015915.4	NP_056999.2	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	139	GB1/RHD3-type G.				axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						ATGGTAAAAAGGTATGATGCT	0.343																																						dbGAP											0													59.0	56.0	57.0					14																	51057793		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF131801	CCDS9700.1, CCDS32077.1	14q21.3	2014-09-17	2008-09-17	2008-09-17	ENSG00000198513	ENSG00000198513			11231	protein-coding gene	gene with protein product	"""atlastin"""	606439	"""spastic paraplegia 3A (autosomal dominant)"""	SPG3, SPG3A		8252041, 7825576	Standard	NM_015915		Approved	FSP1, AD-FSP	uc001wyd.4	Q8WXF7	OTTHUMG00000140297	ENST00000358385.6:c.417+1G>T	14.37:g.51057793G>T			A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.K139N	ENST00000358385.6	37	c.417	CCDS9700.1	14	.	.	.	.	.	.	.	.	.	.	G	17.66	3.445051	0.63178	.	.	ENSG00000198513	ENST00000441560;ENST00000358385;ENST00000357032;ENST00000354525	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	5.38	5.38	0.77491	Guanylate-binding protein, N-terminal (1);	0.044253	0.85682	D	0.000000	T	0.62732	0.2452	M	0.83953	2.67	0.80722	D	1	B;B	0.29508	0.246;0.104	B;B	0.30029	0.11;0.067	T	0.61734	-0.7002	10	0.23302	T	0.38	-8.261	18.1148	0.89549	0.0:0.0:1.0:0.0	.	139;139	Q8WXF7;G5E9T1	ATLA1_HUMAN;.	N	139	ENSP00000413675:K139N;ENSP00000351155:K139N;ENSP00000349534:K139N;ENSP00000346522:K139N	ENSP00000346522:K139N	K	+	3	2	ATL1	50127543	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	9.447000	0.97595	2.528000	0.85240	0.585000	0.79938	AAG	ATL1	-	pfam_Guanylate-bd_N	ENSG00000198513		0.343	ATL1-001	KNOWN	basic|CCDS	protein_coding	ATL1	HGNC	protein_coding	OTTHUMT00000276884.2	30	0.00	0	G		Missense_Mutation	51057793	51057793	+1	no_errors	ENST00000357032	ensembl	human	known	69_37n	missense	28	12.50	4	SNP	1.000	T
AURKAIP1	54998	genome.wustl.edu	37	1	1310127	1310127	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr1:1310127C>G	ENST00000338370.3	-	1	410	c.10G>C	c.(10-12)Ggg>Cgg	p.G4R	AURKAIP1_ENST00000489799.1_5'UTR|AURKAIP1_ENST00000378853.3_Missense_Mutation_p.G4R|AURKAIP1_ENST00000321751.5_Missense_Mutation_p.G4R|AURKAIP1_ENST00000338338.5_Missense_Mutation_p.G4R			Q9NWT8	AKIP_HUMAN	aurora kinase A interacting protein 1	4					negative regulation of mitosis (GO:0045839)|positive regulation of proteolysis (GO:0045862)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				kidney(1)|lung(2)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GTCAGGCGCCCCAGGAGCATG	0.682																																						dbGAP											0													12.0	11.0	11.0					1																	1310127		2130	4185	6315	-	-	-	SO:0001583	missense	0				CCDS25.1	1p36.33	2014-02-12			ENSG00000175756	ENSG00000175756			24114	protein-coding gene	gene with protein product		609183				12244051	Standard	NM_017900		Approved	AKIP, AIP, FLJ20608	uc009vkb.1	Q9NWT8	OTTHUMG00000001413	ENST00000338370.3:c.10G>C	1.37:g.1310127C>G	ENSP00000342676:p.Gly4Arg		Q5TA36|Q8TBD3	Missense_Mutation	SNP	pfam_DUF1713_mit	p.G4R	ENST00000338370.3	37	c.10	CCDS25.1	1	.	.	.	.	.	.	.	.	.	.	c	8.617	0.890488	0.17613	.	.	ENSG00000175756	ENST00000338338;ENST00000338370;ENST00000321751;ENST00000378853	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	4.85	-1.07	0.09968	.	0.921454	0.09118	N	0.846178	T	0.18882	0.0453	N	0.08118	0	0.09310	N	0.999997	B	0.26400	0.148	B	0.17433	0.018	T	0.16188	-1.0411	10	0.48119	T	0.1	-1.0652	4.3604	0.11199	0.1514:0.3142:0.4441:0.0903	.	4	Q9NWT8	AKIP_HUMAN	R	4	ENSP00000340656:G4R;ENSP00000342676:G4R;ENSP00000319778:G4R;ENSP00000368130:G4R	ENSP00000319778:G4R	G	-	1	0	AURKAIP1	1299990	0.000000	0.05858	0.145000	0.22337	0.004000	0.04260	-0.166000	0.09954	-0.155000	0.11098	-0.175000	0.13238	GGG	AURKAIP1	-	NULL	ENSG00000175756		0.682	AURKAIP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AURKAIP1	HGNC	protein_coding	OTTHUMT00000008273.1	51	0.00	0	C	NM_017900		1310127	1310127	-1	no_errors	ENST00000321751	ensembl	human	known	69_37n	missense	60	15.49	11	SNP	0.055	G
C10orf105	414152	genome.wustl.edu	37	10	73491898	73491898	+	Intron	SNP	G	G	A			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr10:73491898G>A	ENST00000398786.2	-	1	97				CDH23_ENST00000224721.6_Silent_p.P1295P	NM_001168390.1	NP_001161862.1	Q8TEF2	CJ105_HUMAN	chromosome 10 open reading frame 105							integral component of membrane (GO:0016021)											ACCAGGCCCCGCCCTTCAACC	0.562																																						dbGAP											0													64.0	69.0	67.0					10																	73491898		2104	4212	6316	-	-	-	SO:0001627	intron_variant	0			AK074172	CCDS44430.1	10q22.1	2012-06-01			ENSG00000214688	ENSG00000214688			20304	protein-coding gene	gene with protein product							Standard	NM_001164375		Approved	FLJ00245	uc001jsa.2	Q8TEF2	OTTHUMG00000018427	ENST00000398786.2:c.4+5586C>T	10.37:g.73491898G>A				Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P1293	ENST00000398786.2	37	c.3879	CCDS44430.1	10																																																																																			CDH23	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000107736		0.562	C10orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000048551.2	29	0.00	0	G	NM_001164375		73491898	73491898	+1	no_errors	ENST00000224721	ensembl	human	known	69_37n	silent	26	34.15	14	SNP	0.071	A
COL4A4	1286	genome.wustl.edu	37	2	227945200	227945200	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr2:227945200G>A	ENST00000396625.3	-	24	1969	c.1762C>T	c.(1762-1764)Cgg>Tgg	p.R588W	COL4A4_ENST00000329662.7_Missense_Mutation_p.R588W	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	588	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGTCCATCCCGACCATGTGAT	0.453																																						dbGAP											0													130.0	129.0	129.0					2																	227945200		1855	4100	5955	-	-	-	SO:0001583	missense	0				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1762C>T	2.37:g.227945200G>A	ENSP00000379866:p.Arg588Trp		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.R588W	ENST00000396625.3	37	c.1762	CCDS42828.1	2	.	.	.	.	.	.	.	.	.	.	G	9.860	1.195964	0.22037	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.93488	-3.23;-3.23	5.91	0.613	0.17597	.	.	.	.	.	D	0.89598	0.6761	M	0.67569	2.06	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.79420	-0.1811	9	0.56958	D	0.05	.	2.2711	0.04091	0.2175:0.2281:0.4374:0.1171	.	588	P53420	CO4A4_HUMAN	W	588	ENSP00000379866:R588W;ENSP00000328553:R588W	ENSP00000328553:R588W	R	-	1	2	COL4A4	227653444	0.000000	0.05858	0.009000	0.14445	0.224000	0.24922	0.218000	0.17622	-0.170000	0.10816	0.655000	0.94253	CGG	COL4A4	-	NULL	ENSG00000081052		0.453	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL4A4	HGNC	protein_coding	OTTHUMT00000313770.1	28	0.00	0	G	NM_000092		227945200	227945200	-1	no_errors	ENST00000396625	ensembl	human	known	69_37n	missense	22	33.33	11	SNP	0.008	A
DACT2	168002	genome.wustl.edu	37	6	168708328	168708328	+	Silent	SNP	G	G	A			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr6:168708328G>A	ENST00000366795.3	-	4	2197	c.2109C>T	c.(2107-2109)gaC>gaT	p.D703D	DACT2_ENST00000610183.1_Silent_p.D533D|DACT2_ENST00000607983.1_Silent_p.D295D|DACT2_ENST00000366796.3_Intron	NM_214462.3	NP_999627.2	Q5SW24	DACT2_HUMAN	dishevelled-binding antagonist of beta-catenin 2	703					epithelial cell morphogenesis (GO:0003382)|hematopoietic progenitor cell differentiation (GO:0002244)|inner medullary collecting duct development (GO:0072061)|negative regulation of cell adhesion (GO:0007162)|negative regulation of nodal signaling pathway (GO:1900108)|skin development (GO:0043588)	mitochondrion (GO:0005739)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)|transcription factor binding (GO:0008134)			endometrium(1)	1		Breast(66;1.46e-05)|Ovarian(120;0.0728)		OV - Ovarian serous cystadenocarcinoma(33;5.33e-21)|BRCA - Breast invasive adenocarcinoma(81;1.18e-06)|GBM - Glioblastoma multiforme(31;0.000957)		CGCCCTCCTCGTCGCTGCTGC	0.687																																						dbGAP											0													24.0	27.0	26.0					6																	168708328		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AF318336	CCDS47519.1, CCDS69241.1, CCDS75554.1	6q27	2013-05-15	2013-05-15	2003-09-17	ENSG00000164488	ENSG00000164488			21231	protein-coding gene	gene with protein product		608966	"""chromosome 6 open reading frame 116"", ""dapper homolog 2, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 2 (Xenopus laevis)"""	C6orf116			Standard	NM_001286351		Approved	bA503C24.7, DAPPER2	uc003qwq.3	Q5SW24	OTTHUMG00000016046	ENST00000366795.3:c.2109C>T	6.37:g.168708328G>A			Q2NKJ2|Q569G0|Q8WYW2	Silent	SNP	NULL	p.D703	ENST00000366795.3	37	c.2109	CCDS47519.1	6																																																																																			DACT2	-	NULL	ENSG00000164488		0.687	DACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DACT2	HGNC	protein_coding	OTTHUMT00000043193.1	40	0.00	0	G			168708328	168708328	-1	no_errors	ENST00000366795	ensembl	human	known	69_37n	silent	21	48.78	20	SNP	0.005	A
DBH	1621	genome.wustl.edu	37	9	136505083	136505083	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr9:136505083G>C	ENST00000393056.2	+	2	467	c.455G>C	c.(454-456)gGc>gCc	p.G152A		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	152	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.				behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	AGGCCCTTTGGCACCTGCGAC	0.607																																						dbGAP											0													56.0	49.0	52.0					9																	136505083		2203	4300	6503	-	-	-	SO:0001583	missense	0			X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.455G>C	9.37:g.136505083G>C	ENSP00000376776:p.Gly152Ala		Q5T381|Q96AG2	Missense_Mutation	SNP	pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase	p.G152A	ENST00000393056.2	37	c.455	CCDS6977.2	9	.	.	.	.	.	.	.	.	.	.	G	2.661	-0.279699	0.05642	.	.	ENSG00000123454	ENST00000393056	T	0.76316	-1.01	4.89	-2.59	0.06209	DOMON domain (3);	0.453619	0.27315	N	0.019929	T	0.56514	0.1990	L	0.36672	1.1	0.22489	N	0.999053	B	0.06786	0.001	B	0.11329	0.006	T	0.43491	-0.9388	10	0.10636	T	0.68	-12.4899	3.7893	0.08713	0.1416:0.4618:0.2005:0.1961	.	152	P09172	DOPO_HUMAN	A	152	ENSP00000376776:G152A	ENSP00000376776:G152A	G	+	2	0	DBH	135494904	0.982000	0.34865	0.884000	0.34674	0.981000	0.71138	0.557000	0.23454	-1.044000	0.03254	-0.311000	0.09066	GGC	DBH	-	pfam_DOMON_domain,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase	ENSG00000123454		0.607	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBH	HGNC	protein_coding	OTTHUMT00000054929.2	20	0.00	0	G	NM_000787		136505083	136505083	+1	no_errors	ENST00000393056	ensembl	human	known	69_37n	missense	16	40.74	11	SNP	0.978	C
DDI2	84301	genome.wustl.edu	37	1	15956963	15956963	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr1:15956963C>G	ENST00000480945.1	+	3	583	c.412C>G	c.(412-414)Ctc>Gtc	p.L138V		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	138							aspartic-type endopeptidase activity (GO:0004190)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TCCAGCCTTGCTCCGAGATAT	0.562																																						dbGAP											0													98.0	89.0	92.0					1																	15956963		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS30607.1	1p36.13	2010-05-04	2010-05-04		ENSG00000197312	ENSG00000197312			24578	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae)"""				Standard	NM_032341		Approved	MGC14844	uc001awx.2	Q5TDH0	OTTHUMG00000002381	ENST00000480945.1:c.412C>G	1.37:g.15956963C>G	ENSP00000417748:p.Leu138Val		A8KAE1|Q7RTZ0|Q9BRT1	Missense_Mutation	SNP	pfam_Peptidase_aspartic_euk-pred,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,pfam_Ubiquitin,superfamily_Peptidase_aspartic,pfscan_Ubiquitin_supergroup	p.L138V	ENST00000480945.1	37	c.412	CCDS30607.1	1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867103	0.51588	.	.	ENSG00000197312	ENST00000480945	T	0.24723	1.84	5.67	5.67	0.87782	.	0.000000	0.64402	U	0.000001	T	0.25306	0.0615	L	0.39514	1.22	0.58432	D	0.999999	B	0.12013	0.005	B	0.15484	0.013	T	0.03157	-1.1066	10	0.24483	T	0.36	.	19.3867	0.94560	0.0:1.0:0.0:0.0	.	138	Q5TDH0	DDI2_HUMAN	V	138	ENSP00000417748:L138V	ENSP00000449475:L23V	L	+	1	0	DDI2	15829550	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	2.914000	0.48797	2.684000	0.91462	0.650000	0.86243	CTC	DDI2	-	NULL	ENSG00000197312		0.562	DDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDI2	HGNC	protein_coding	OTTHUMT00000006826.1	32	0.00	0	C	NM_032341		15956963	15956963	+1	no_errors	ENST00000480945	ensembl	human	known	69_37n	missense	16	42.86	12	SNP	1.000	G
DIP2A	23181	genome.wustl.edu	37	21	47966833	47966833	+	Silent	SNP	C	C	T			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr21:47966833C>T	ENST00000417564.2	+	21	2421	c.2400C>T	c.(2398-2400)aaC>aaT	p.N800N	DIP2A_ENST00000400274.1_Silent_p.N796N|DIP2A_ENST00000466639.1_Silent_p.N757N|DIP2A_ENST00000427143.2_Silent_p.N736N|DIP2A_ENST00000318711.7_Silent_p.N801N|DIP2A_ENST00000457905.3_Silent_p.N800N|DIP2A_ENST00000435722.3_Silent_p.N800N			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	800					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CTCAGGACAACCTGGTCTTCA	0.617																																						dbGAP											0													77.0	84.0	82.0					21																	47966833		2131	4255	6386	-	-	-	SO:0001819	synonymous_variant	0			AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.2400C>T	21.37:g.47966833C>T			A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Silent	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.N801	ENST00000417564.2	37	c.2403	CCDS46655.1	21																																																																																			DIP2A	-	pfam_AMP-dep_Synth/Lig	ENSG00000160305		0.617	DIP2A-012	KNOWN	basic|CCDS	protein_coding	DIP2A	HGNC	protein_coding	OTTHUMT00000376736.1	36	0.00	0	C	NM_015151		47966833	47966833	+1	no_errors	ENST00000318711	ensembl	human	known	69_37n	silent	24	22.58	7	SNP	0.569	T
DNM1P46	196968	genome.wustl.edu	37	15	100340002	100340002	+	RNA	SNP	C	C	T	rs200405906		TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr15:100340002C>T	ENST00000341853.1	-	0	924					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										TTCTCGTTCCCACGCGAGTGC	0.607																																						dbGAP											0													34.0	30.0	31.0					15																	100340002		875	1991	2866	-	-	-			0			AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100340002C>T			Q3ZCN3	RNA	SNP	-	NULL	ENST00000341853.1	37	NULL		15																																																																																			DNM1P46	-	-	ENSG00000182397		0.607	DNM1P46-002	KNOWN	basic	processed_transcript	DNM1P46	HGNC	pseudogene	OTTHUMT00000313543.1	29	0.00	0	C	NR_003260		100340002	100340002	-1	no_errors	ENST00000341853	ensembl	human	known	69_37n	rna	28	15.15	5	SNP	1.000	T
DNMT1	1786	genome.wustl.edu	37	19	10252733	10252733	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr19:10252733C>A	ENST00000340748.4	-	29	3467	c.3232G>T	c.(3232-3234)Ggc>Tgc	p.G1078C	DNMT1_ENST00000589538.1_5'UTR|DNMT1_ENST00000359526.4_Missense_Mutation_p.G1094C|DNMT1_ENST00000540357.1_Missense_Mutation_p.G1078C			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1078	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	TTGGGGCCGCCCATGGAGTAC	0.632																																						dbGAP											0													55.0	49.0	51.0					19																	10252733		2203	4300	6503	-	-	-	SO:0001583	missense	0			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.3232G>T	19.37:g.10252733C>A	ENSP00000345739:p.Gly1078Cys		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC	p.G1094C	ENST00000340748.4	37	c.3280	CCDS12228.1	19	.	.	.	.	.	.	.	.	.	.	C	13.15	2.151123	0.38021	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.24908	1.83;1.83;1.83	5.36	3.1	0.35709	Bromo adjacent homology (BAH) domain (3);	0.297283	0.36665	N	0.002462	T	0.47002	0.1422	M	0.79475	2.455	0.27905	N	0.938832	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.70935	0.951;0.967;0.971	T	0.39187	-0.9626	10	0.72032	D	0.01	.	8.8875	0.35411	0.0:0.6328:0.2876:0.0795	.	1078;1094;1078	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	C	1094;1078;1078;946	ENSP00000352516:G1094C;ENSP00000440457:G1078C;ENSP00000345739:G1078C	ENSP00000345739:G1078C	G	-	1	0	DNMT1	10113733	0.010000	0.17322	0.013000	0.15412	0.166000	0.22503	1.806000	0.38892	0.568000	0.29311	0.655000	0.94253	GGC	DNMT1	-	pirsf_DNA_C5-MeTrfase_1_euk,pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	ENSG00000130816		0.632	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	DNMT1	HGNC	protein_coding	OTTHUMT00000451166.1	30	0.00	0	C	NM_001379		10252733	10252733	-1	no_errors	ENST00000359526	ensembl	human	known	69_37n	missense	20	28.57	8	SNP	0.313	A
DNM2	1785	genome.wustl.edu	37	19	10935731	10935731	+	Splice_Site	SNP	A	A	T			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr19:10935731A>T	ENST00000355667.6	+	18	1973		c.e18-1		DNM2_ENST00000585892.1_Splice_Site|DNM2_ENST00000389253.4_Splice_Site|DNM2_ENST00000359692.6_Splice_Site|DNM2_ENST00000408974.4_Splice_Site|DNM2_ENST00000314646.5_Splice_Site	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TCCCGCTTGCAGGCAGAAAAC	0.592			"""F, N, Splice, Mis, O"""		ETP ALL																																	dbGAP		Rec	yes		19	19p13.2	1785	dynamin 2		L	0													87.0	89.0	88.0					19																	10935731		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1894-1A>T	19.37:g.10935731A>T			A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Splice_Site	SNP	-	e18-2	ENST00000355667.6	37	c.1894-2	CCDS45968.1	19	.	.	.	.	.	.	.	.	.	.	A	13.48	2.248724	0.39797	.	.	ENSG00000079805	ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646;ENST00000545324	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7443	0.62865	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNM2	10796731	1.000000	0.71417	0.976000	0.42696	0.084000	0.17831	8.540000	0.90641	1.904000	0.55121	0.460000	0.39030	.	DNM2	-	-	ENSG00000079805		0.592	DNM2-001	KNOWN	basic|CCDS	protein_coding	DNM2	HGNC	protein_coding	OTTHUMT00000452592.1	28	0	0	A	NM_004945	Intron	10935731	10935731	+1	no_errors	ENST00000314646	ensembl	human	known	69_37n	splice_site	30	26.83	11	SNP	1.000	T
EEF1G	1937	genome.wustl.edu	37	11	62340150	62340150	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr11:62340150C>T	ENST00000329251.4	-	2	207	c.77G>A	c.(76-78)gGg>gAg	p.G26E	MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000378019.3_Missense_Mutation_p.G76E|EEF1G_ENST00000532986.1_5'UTR	NM_001404.4	NP_001395.1	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	26	GST N-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to virus (GO:0009615)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	translation elongation factor activity (GO:0003746)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GACCTGAGCCCCGCTGTACTG	0.542																																						dbGAP											0													65.0	67.0	67.0					11																	62340150		1936	4129	6065	-	-	-	SO:0001583	missense	0			X63526	CCDS44626.1	11q12.3	2008-02-05			ENSG00000254772	ENSG00000254772			3213	protein-coding gene	gene with protein product		130593				1598220, 1461723	Standard	NM_001404		Approved	EF1G	uc001ntm.1	P26641	OTTHUMG00000167567	ENST00000329251.4:c.77G>A	11.37:g.62340150C>T	ENSP00000331901:p.Gly26Glu		B4DTG2|Q6PJ62|Q6PK31|Q96CU2|Q9P196	Missense_Mutation	SNP	pfam_Transl_elong_EF1_G_con,pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Transl_elong_EF1_G_con,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,pfscan_Transl_elong_EF1_G_con	p.G76E	ENST00000329251.4	37	c.227	CCDS44626.1	11	.	.	.	.	.	.	.	.	.	.	C	32	5.116646	0.94385	.	.	ENSG00000254772	ENST00000329251;ENST00000378019	T;T	0.12569	2.67;2.67	4.37	4.37	0.52481	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.42108	0.1188	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;0.977	D;D	0.74348	0.983;0.934	T	0.51624	-0.8682	10	0.87932	D	0	.	14.7942	0.69865	0.0:1.0:0.0:0.0	.	76;26	B4DTG2;P26641	.;EF1G_HUMAN	E	26;76	ENSP00000331901:G26E;ENSP00000367258:G76E	ENSP00000331901:G26E	G	-	2	0	EEF1G	62096726	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.415000	0.80131	2.161000	0.67846	0.650000	0.86243	GGG	EEF1G	-	pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold	ENSG00000254772		0.542	EEF1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1G	HGNC	protein_coding	OTTHUMT00000395047.1	29	0.00	0	C	NM_001404		62340150	62340150	-1	no_errors	ENST00000378019	ensembl	human	known	69_37n	missense	27	32.50	13	SNP	1.000	T
EIF2B1	1967	genome.wustl.edu	37	12	124111642	124111642	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr12:124111642G>C	ENST00000424014.2	-	5	639	c.431C>G	c.(430-432)gCc>gGc	p.A144G	EIF2B1_ENST00000539951.1_Missense_Mutation_p.A131G|EIF2B1_ENST00000537073.1_Missense_Mutation_p.A144G	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	144					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme regulator activity (GO:0030234)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		TCGCTTCTTGGCCGCCACGGC	0.507																																						dbGAP											0													143.0	119.0	127.0					12																	124111642		2203	4300	6503	-	-	-	SO:0001583	missense	0			X95648	CCDS31924.1	12q24.3	1998-10-16	2002-08-29		ENSG00000111361	ENSG00000111361			3257	protein-coding gene	gene with protein product		606686	"""eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)"""	EIF2B			Standard	NM_001414		Approved	EIF-2Balpha, EIF-2B, EIF2BA	uc001ufm.3	Q14232	OTTHUMG00000168696	ENST00000424014.2:c.431C>G	12.37:g.124111642G>C	ENSP00000416250:p.Ala144Gly		A6NLY9|B4DGX0|Q3SXP4	Missense_Mutation	SNP	pfam_IF-2B-related	p.A144G	ENST00000424014.2	37	c.431	CCDS31924.1	12	.	.	.	.	.	.	.	.	.	.	G	15.19	2.758695	0.49468	.	.	ENSG00000111361	ENST00000424014;ENST00000228958;ENST00000539951;ENST00000537073	D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08	5.72	5.72	0.89469	.	0.144600	0.64402	D	0.000007	D	0.90287	0.6962	L	0.55481	1.735	0.43061	D	0.994688	B;B;B	0.24368	0.102;0.055;0.011	B;B;B	0.29716	0.106;0.029;0.017	D	0.86713	0.1937	10	0.34782	T	0.22	-27.6585	14.7038	0.69174	0.0:0.0:0.8551:0.1448	.	144;131;144	B4DGX0;F5H0D0;Q14232	.;.;EI2BA_HUMAN	G	144;144;131;144	ENSP00000416250:A144G;ENSP00000228958:A144G;ENSP00000438060:A131G;ENSP00000444183:A144G	ENSP00000228958:A144G	A	-	2	0	EIF2B1	122677595	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	5.787000	0.69013	2.691000	0.91804	0.655000	0.94253	GCC	EIF2B1	-	pfam_IF-2B-related	ENSG00000111361		0.507	EIF2B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B1	HGNC	protein_coding	OTTHUMT00000400628.1	29	0.00	0	G	NM_001414		124111642	124111642	-1	no_errors	ENST00000424014	ensembl	human	known	69_37n	missense	26	23.53	8	SNP	1.000	C
BRINP2	57795	genome.wustl.edu	37	1	177250856	177250857	+	3'UTR	DEL	AC	AC	-	rs375159117		TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr1:177250856_177250857delAC	ENST00000361539.4	+	0	2856_2857				BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2						cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											GCGcacgcatacacacacacac	0.51																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.*193AC>-	1.37:g.177250866_177250867delAC			O95560|Q6ZWC1|Q7LCZ9|Q8N360	RNA	DEL	-	NULL	ENST00000361539.4	37	NULL	CCDS1320.1	1																																																																																			FAM5B	-	-	ENSG00000198797		0.510	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM5B	HGNC	protein_coding	OTTHUMT00000084599.1	32	0.00	0	AC	NM_021165		177250856	177250857	+1	no_errors	ENST00000478325	ensembl	human	known	69_37n	rna	51	10.34	6	DEL	0.000:0.000	-
FUZ	80199	genome.wustl.edu	37	19	50315565	50315565	+	Silent	SNP	C	C	T			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr19:50315565C>T	ENST00000313777.4	-	3	424	c.261G>A	c.(259-261)gaG>gaA	p.E87E	FUZ_ENST00000528094.1_Intron|FUZ_ENST00000445575.2_Silent_p.E87E|FUZ_ENST00000526575.1_Intron|FUZ_ENST00000533418.1_Silent_p.E37E|AC006942.4_ENST00000600669.1_RNA|FUZ_ENST00000534008.1_5'UTR	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	87					cilium assembly (GO:0042384)|embryonic body morphogenesis (GO:0010172)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of planar polarity (GO:0001736)|hair follicle development (GO:0001942)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)|negative regulation of neural crest formation (GO:0090301)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|positive regulation of cilium assembly (GO:0045724)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		AGATGCCCACCTCAGATGACA	0.522																																						dbGAP											0													88.0	70.0	76.0					19																	50315565		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC016793	CCDS12781.1, CCDS54293.1	19q13.33	2013-03-05	2013-03-05			ENSG00000010361			26219	protein-coding gene	gene with protein product		610622	"""fuzzy homolog (Drosophila)"""			21761479	Standard	NM_001171937		Approved	FLJ22688, Fy	uc002ppq.2	Q9BT04		ENST00000313777.4:c.261G>A	19.37:g.50315565C>T			B2RD86|B5MDH0|Q6PJY0|Q9H613	Silent	SNP	NULL	p.E87	ENST00000313777.4	37	c.261	CCDS12781.1	19																																																																																			FUZ	-	NULL	ENSG00000010361		0.522	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FUZ	HGNC	protein_coding	OTTHUMT00000393986.1	27	0.00	0	C	NM_025129		50315565	50315565	-1	no_errors	ENST00000313777	ensembl	human	known	69_37n	silent	20	13.04	3	SNP	0.996	T
ZNF473	25888	genome.wustl.edu	37	19	50554082	50554082	+	IGR	SNP	C	C	T			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr19:50554082C>T	ENST00000595661.1	+	0	4828				CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.1_ENST00000527209.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473						gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		CTGCCCCGGCCCCACGGATAC	0.662																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0			AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7			19.37:g.50554082C>T			A8K8T7|Q9ULS9|Q9Y4Q7	RNA	SNP	-	NULL	ENST00000595661.1	37	NULL	CCDS33077.1	19																																																																																			CTD-2126E3.1	-	-	ENSG00000204666		0.662	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FLJ26850	Clone_based_vega_gene	protein_coding	OTTHUMT00000464833.1	42	0.00	0	C	XM_046390		50554082	50554082	+1	no_errors	ENST00000527209	ensembl	human	known	69_37n	rna	41	19.23	10	SNP	0.000	T
GAB3	139716	genome.wustl.edu	37	X	153940823	153940823	+	Silent	SNP	G	G	A	rs111690457		TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chrX:153940823G>A	ENST00000369575.3	-	4	778	c.747C>T	c.(745-747)tcC>tcT	p.S249S	GAB3_ENST00000496390.1_Intron|GAB3_ENST00000424127.2_Silent_p.S250S	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	249					macrophage differentiation (GO:0030225)					NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GAGGCCTCGAGGATGGCACCT	0.537																																						dbGAP											0													84.0	85.0	85.0					X																	153940823		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"""Pleckstrin homology (PH) domain containing"""	17515	protein-coding gene	gene with protein product	"""DOS/Gab family member 3"", ""Gab3 scaffolding protein"""	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.747C>T	X.37:g.153940823G>A			A6NHF8|E9PB44	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S250	ENST00000369575.3	37	c.750	CCDS14760.1	X																																																																																			GAB3	-	NULL	ENSG00000160219		0.537	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAB3	HGNC	protein_coding	OTTHUMT00000061192.2	15	0.00	0	G	NM_001081573		153940823	153940823	-1	no_errors	ENST00000424127	ensembl	human	known	69_37n	silent	14	30.00	6	SNP	0.145	A
GPC5	2262	genome.wustl.edu	37	13	92345527	92345527	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr13:92345527G>T	ENST00000377067.3	+	3	784	c.412G>T	c.(412-414)Gct>Tct	p.A138S		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	138					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CTTGGAGGCTGCTGCTTCGGT	0.403																																						dbGAP											0													128.0	132.0	131.0					13																	92345527		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.412G>T	13.37:g.92345527G>T	ENSP00000366267:p.Ala138Ser		B2R726|O60436|Q9BX27	Missense_Mutation	SNP	pfam_Glypican	p.A138S	ENST00000377067.3	37	c.412	CCDS9468.1	13	.	.	.	.	.	.	.	.	.	.	G	5.897	0.349607	0.11182	.	.	ENSG00000179399	ENST00000377067	T	0.47869	0.83	5.07	4.23	0.50019	.	0.378243	0.29616	N	0.011654	T	0.35098	0.0920	L	0.31752	0.955	0.33485	D	0.587973	B	0.25719	0.132	B	0.33254	0.16	T	0.43114	-0.9411	10	0.21014	T	0.42	.	8.3821	0.32477	0.2471:0.0:0.7529:0.0	.	138	P78333	GPC5_HUMAN	S	138	ENSP00000366267:A138S	ENSP00000366267:A138S	A	+	1	0	GPC5	91143528	0.099000	0.21834	0.998000	0.56505	0.978000	0.69477	1.215000	0.32431	1.134000	0.42165	0.467000	0.42956	GCT	GPC5	-	pfam_Glypican	ENSG00000179399		0.403	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC5	HGNC	protein_coding	OTTHUMT00000045454.1	70	0.00	0	G	NM_004466		92345527	92345527	+1	no_errors	ENST00000377067	ensembl	human	known	69_37n	missense	36	10.00	4	SNP	0.996	T
HLA-V	352962	genome.wustl.edu	37	6	29765145	29765145	+	RNA	SNP	C	C	T	rs72507839	byFrequency	TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr6:29765145C>T	ENST00000457107.1	+	0	4371									major histocompatibility complex, class I, V (pseudogene)																		gggaagctggctgttgtgtca	0.458													c|||	486	0.0970447	0.2352	0.0346	5008	,	,		18812	0.0774		0.0249	False		,,,				2504	0.0491					dbGAP											0																																										-	-	-			0			M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29765145C>T				RNA	SNP	-	NULL	ENST00000457107.1	37	NULL		6																																																																																			HLA-P	-	-	ENSG00000181126		0.458	HLA-V-003	KNOWN	basic	processed_transcript	HLA-P	HGNC	pseudogene	OTTHUMT00000105231.1	12	0.00	0	C	NG_002729		29765145	29765145	+1	no_errors	ENST00000457107	ensembl	human	known	69_37n	rna	16	40.74	11	SNP	0.005	T
HTR3D	200909	genome.wustl.edu	37	3	183752970	183752970	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr3:183752970C>T	ENST00000382489.3	+	2	244	c.244C>T	c.(244-246)Cac>Tac	p.H82Y	HTR3D_ENST00000453435.1_5'UTR|HTR3D_ENST00000334128.2_5'UTR|HTR3D_ENST00000428798.2_Missense_Mutation_p.S24L	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	82					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	TTCCAGGATTCACACCTTCAA	0.488																																						dbGAP											0													271.0	226.0	239.0					3																	183752970		692	1591	2283	-	-	-	SO:0001583	missense	0			AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24004	protein-coding gene	gene with protein product		610122	"""5-hydroxytryptamine (serotonin) receptor 3 family member D"""			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.244C>T	3.37:g.183752970C>T	ENSP00000371929:p.His82Tyr		C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd	p.H82Y	ENST00000382489.3	37	c.244	CCDS54685.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.90|11.90	1.775822|1.775822	0.31411|0.31411	.|.	.|.	ENSG00000186090|ENSG00000186090	ENST00000382489|ENST00000428798	T|T	0.77358|0.76186	-1.09|-1.0	4.59|4.59	0.376|0.376	0.16193|0.16193	Neurotransmitter-gated ion-channel ligand-binding (3);|.	0.502354|.	0.16473|.	U|.	0.212867|.	T|T	0.70055|0.70055	0.3180|0.3180	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999998|0.999998	P|.	0.45126|.	0.851|.	P|.	0.51055|.	0.657|.	T|T	0.62148|0.62148	-0.6915|-0.6915	9|6	0.87932|0.72032	D|D	0|0.01	-4.0|-4.0	5.8843|5.8843	0.18872|0.18872	0.5343:0.37:0.0:0.0958|0.5343:0.37:0.0:0.0958	.|.	82|.	Q70Z44|.	5HT3D_HUMAN|.	Y|L	82|24	ENSP00000371929:H82Y|ENSP00000405409:S24L	ENSP00000371929:H82Y|ENSP00000405409:S24L	H|S	+|+	1|2	0|0	HTR3D|HTR3D	185235664|185235664	0.453000|0.453000	0.25721|0.25721	0.001000|0.001000	0.08648|0.08648	0.115000|0.115000	0.19883|0.19883	0.500000|0.500000	0.22562|0.22562	-0.042000|-0.042000	0.13535|0.13535	0.655000|0.655000	0.94253|0.94253	CAC|TCA	HTR3D	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd	ENSG00000186090		0.488	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HTR3D	HGNC	protein_coding	OTTHUMT00000346289.1	60	0.00	0	C	NM_182537		183752970	183752970	+1	no_errors	ENST00000382489	ensembl	human	known	69_37n	missense	87	13.86	14	SNP	0.001	T
KIAA0040	9674	genome.wustl.edu	37	1	175129996	175129996	+	Missense_Mutation	SNP	A	A	C			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr1:175129996A>C	ENST00000423313.1	-	4	690	c.154T>G	c.(154-156)Tgg>Ggg	p.W52G	KIAA0040_ENST00000567124.1_5'Flank|KIAA0040_ENST00000545251.2_Missense_Mutation_p.W52G|KIAA0040_ENST00000444639.1_Missense_Mutation_p.W52G	NM_001162893.1|NM_001162895.1|NM_014656.2	NP_001156365.1|NP_001156367.1|NP_055471.2	Q15053	K0040_HUMAN	KIAA0040	0																	GGTGGGCTCCAGCAGCAATGG	0.522																																						dbGAP											0													81.0	67.0	71.0					1																	175129996		692	1591	2283	-	-	-	SO:0001583	missense	0			D25539		1q24-q25	2012-11-29			ENSG00000235750	ENSG00000235750			28950	protein-coding gene	gene with protein product							Standard	NM_014656		Approved		uc001gkn.3	Q15053	OTTHUMG00000034880	ENST00000423313.1:c.154T>G	1.37:g.175129996A>C	ENSP00000462172:p.Trp52Gly		A8K9H6|Q2NKQ0	Missense_Mutation	SNP	NULL	p.W52G	ENST00000423313.1	37	c.154		1																																																																																			KIAA0040	-	NULL	ENSG00000235750		0.522	KIAA0040-002	KNOWN	basic|appris_principal	protein_coding	KIAA0040	HGNC	protein_coding	OTTHUMT00000084420.3	71	0.00	0	A	NM_014656		175129996	175129996	-1	no_errors	ENST00000423313	ensembl	human	known	69_37n	missense	96	13.51	15	SNP	1.000	C
KIAA0195	9772	genome.wustl.edu	37	17	73487872	73487872	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr17:73487872C>T	ENST00000314256.7	+	14	1881	c.1487C>T	c.(1486-1488)cCc>cTc	p.P496L	KIAA0195_ENST00000579208.1_Missense_Mutation_p.P147L|KIAA0195_ENST00000375248.5_Missense_Mutation_p.P506L	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	496						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTCCCAAGCCCCCCGAGCCC	0.627																																						dbGAP											0													63.0	56.0	58.0					17																	73487872		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.1487C>T	17.37:g.73487872C>T	ENSP00000313885:p.Pro496Leu		O75536|Q86XF1	Missense_Mutation	SNP	pfam_ATPase_P-typ_cation-transptr_C	p.P496L	ENST00000314256.7	37	c.1487	CCDS32732.1	17	.	.	.	.	.	.	.	.	.	.	C	6.157	0.397217	0.11638	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	T;T	0.41758	0.99;0.99	5.65	2.56	0.30785	.	0.855811	0.10783	N	0.634588	T	0.29256	0.0728	N	0.22421	0.69	0.31238	N	0.695546	B;B;B	0.15473	0.002;0.013;0.008	B;B;B	0.13407	0.004;0.009;0.004	T	0.26985	-1.0087	10	0.56958	D	0.05	-11.8489	8.3592	0.32348	0.1274:0.7393:0.0:0.1332	.	506;506;496	B4DGC6;C9JL75;Q12767	.;.;K0195_HUMAN	L	496;506	ENSP00000313885:P496L;ENSP00000364397:P506L	ENSP00000313885:P496L	P	+	2	0	KIAA0195	70999467	0.007000	0.16637	0.080000	0.20451	0.068000	0.16541	0.702000	0.25631	0.336000	0.23639	-0.265000	0.10407	CCC	KIAA0195	-	NULL	ENSG00000177728		0.627	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0195	HGNC	protein_coding	OTTHUMT00000447303.1	40	0.00	0	C	NM_014738		73487872	73487872	+1	no_errors	ENST00000314256	ensembl	human	known	69_37n	missense	37	21.28	10	SNP	0.418	T
MAP3K1	4214	genome.wustl.edu	37	5	56168490	56168491	+	Frame_Shift_Ins	INS	-	-	A			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr5:56168490_56168491insA	ENST00000399503.3	+	8	1446_1447	c.1446_1447insA	c.(1447-1449)agafs	p.R483fs		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	483					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GTAGAAGAAATAGAGAACCTTT	0.257																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1447dupA	5.37:g.56168491_56168491dupA	ENSP00000382423:p.Arg483fs			Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.R482fs	ENST00000399503.3	37	c.1446_1447	CCDS43318.1	5																																																																																			MAP3K1	-	pfscan_Znf_RING	ENSG00000095015		0.257	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	32	0.00	0	-	XM_042066		56168490	56168491	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	frame_shift_ins	39	22.00	11	INS	0.994:1.000	A
GLIDR	389741	genome.wustl.edu	37	9	66554428	66554428	+	lincRNA	SNP	G	G	A			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr9:66554428G>A	ENST00000305709.5	+	0	1041				RP11-262H14.3_ENST00000445604.2_lincRNA	NR_015363.1																						GGCAGCAGTCGCATACGAGCA	0.463																																						dbGAP											0																																										-	-	-			0																															9.37:g.66554428G>A				RNA	SNP	-	NULL	ENST00000305709.5	37	NULL		9																																																																																			RP11-262H14.4	-	-	ENSG00000170161		0.463	RP11-262H14.4-001	KNOWN	basic	lincRNA	MGC21881	Clone_based_vega_gene	lincRNA	OTTHUMT00000037077.1	51	0.00	0	G			66554428	66554428	+1	no_errors	ENST00000305709	ensembl	human	known	69_37n	rna	68	32.67	33	SNP	0.261	A
MIR3689A	100500846	genome.wustl.edu	37	9	137741177	137741177	+	RNA	SNP	G	G	A	rs370294447		TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr9:137741177G>A	ENST00000578854.1	-	0	78				AL603650.2_ENST00000581079.1_RNA|MIR3689F_ENST00000579617.1_RNA|MIR3689D2_ENST00000580187.1_RNA|MIR3689D1_ENST00000579706.1_RNA|AL603650.1_ENST00000583957.1_RNA|AL603650.4_ENST00000583817.1_RNA|MIR3689C_ENST00000581239.1_RNA|MIR3689E_ENST00000582479.1_RNA|MIR3689B_ENST00000581772.1_RNA|AL603650.3_ENST00000582742.1_RNA	NR_037460.1				microRNA 3689a																		CAGGAACCACGATATCACACC	0.577																																						dbGAP											0																																										-	-	-			0					9	2011-09-12				ENSG00000265872		"""ncRNAs / Micro RNAs"""	38904	non-coding RNA	RNA, micro							Standard	NR_037460		Approved	hsa-mir-3689a	uc022bpb.1				9.37:g.137741177G>A				RNA	SNP	-	NULL	ENST00000578854.1	37	NULL		9																																																																																			MIR3689C	-	-	ENSG00000264744		0.577	MIR3689A-201	KNOWN	basic	miRNA	MIR3689C	HGNC	miRNA		23	0.00	0	G	NR_037460		137741177	137741177	-1	no_errors	ENST00000581239	ensembl	human	known	69_37n	rna	15	21.05	4	SNP	0.000	A
KMT2C	58508	genome.wustl.edu	37	7	151962231	151962231	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr7:151962231C>G	ENST00000262189.6	-	8	1294	c.1076G>C	c.(1075-1077)tGt>tCt	p.C359S	KMT2C_ENST00000355193.2_Missense_Mutation_p.C359S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	359					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ACAAGTAGTACAAAAGAACTG	0.438																																						dbGAP											0													262.0	240.0	248.0					7																	151962231		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1076G>C	7.37:g.151962231C>G	ENSP00000262189:p.Cys359Ser		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.C359S	ENST00000262189.6	37	c.1076	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329417	0.41197	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.99982	-10.77;-10.77	4.65	4.65	0.58169	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.45867	U	0.000328	D	0.99984	0.9995	M	0.92459	3.31	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	D	0.97115	0.9807	10	0.54805	T	0.06	.	17.9157	0.88950	0.0:1.0:0.0:0.0	.	359	Q8NEZ4	MLL3_HUMAN	S	359	ENSP00000262189:C359S;ENSP00000347325:C359S	ENSP00000262189:C359S	C	-	2	0	MLL3	151593164	1.000000	0.71417	1.000000	0.80357	0.157000	0.22087	7.776000	0.85560	2.271000	0.75665	0.557000	0.71058	TGT	MLL3	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger,pfscan_Znf_RING	ENSG00000055609		0.438	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	56	0.00	0	C			151962231	151962231	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	missense	68	19.05	16	SNP	1.000	G
MRGPRF	116535	genome.wustl.edu	37	11	68773560	68773560	+	Missense_Mutation	SNP	A	A	C			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr11:68773560A>C	ENST00000309099.6	-	3	600	c.218T>G	c.(217-219)aTc>aGc	p.I73S	MRGPRF_ENST00000441623.1_Missense_Mutation_p.I73S|RP11-554A11.5_ENST00000562506.1_RNA	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	73						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GTTCCTCTTGATGGAGAAGCC	0.607																																						dbGAP											0													38.0	43.0	41.0					11																	68773560		2200	4293	6493	-	-	-	SO:0001583	missense	0			AK075492	CCDS8188.1	11q13.1	2014-03-13	2004-03-25		ENSG00000172935	ENSG00000172935		"""GPCR / Class A : Orphans"""	24828	protein-coding gene	gene with protein product		607233	"""G protein-coupled receptor 168"", ""G protein-coupled receptor 140"""	GPR168, GPR140		12477932	Standard	NM_001098515		Approved	MGC21621, mrgF	uc001oop.4	Q96AM1	OTTHUMG00000167897	ENST00000309099.6:c.218T>G	11.37:g.68773560A>C	ENSP00000309782:p.Ile73Ser		B3KV43|Q8NBK8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.I73S	ENST00000309099.6	37	c.218	CCDS8188.1	11	.	.	.	.	.	.	.	.	.	.	A	17.37	3.372183	0.61624	.	.	ENSG00000172935	ENST00000441623;ENST00000309099;ENST00000421543	T;T	0.15952	2.38;2.38	4.97	3.83	0.44106	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000351	T	0.19287	0.0463	M	0.66378	2.025	0.29215	N	0.87433	B	0.25850	0.136	B	0.27262	0.078	T	0.12785	-1.0534	10	0.62326	D	0.03	-50.8201	8.0594	0.30625	0.8198:0.0:0.0:0.1802	.	73	Q96AM1	MRGRF_HUMAN	S	73	ENSP00000403660:I73S;ENSP00000309782:I73S	ENSP00000309782:I73S	I	-	2	0	MRGPRF	68530136	0.101000	0.21875	1.000000	0.80357	0.996000	0.88848	2.830000	0.48136	0.730000	0.32425	0.459000	0.35465	ATC	MRGPRF	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000172935		0.607	MRGPRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRF	HGNC	protein_coding	OTTHUMT00000396875.1	34	0.00	0	A	NM_145015		68773560	68773560	-1	no_errors	ENST00000309099	ensembl	human	known	69_37n	missense	76	10.59	9	SNP	1.000	C
MRPS16	51021	genome.wustl.edu	37	10	75011558	75011558	+	Silent	SNP	G	G	A			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr10:75011558G>A	ENST00000372945.3	-	2	447	c.237C>T	c.(235-237)tgC>tgT	p.C79C	MRPS16_ENST00000416782.2_Silent_p.C79C|TTC18_ENST00000493787.1_5'Flank|RP11-152N13.5_ENST00000457758.1_RNA|MRPS16_ENST00000479005.1_5'UTR|DNAJC9_ENST00000372950.4_5'Flank|RP11-152N13.5_ENST00000457147.1_RNA|RP11-152N13.5_ENST00000394864.2_RNA|DNAJC9-AS1_ENST00000513954.1_RNA|MRPS16_ENST00000372940.3_Silent_p.C79C|DNAJC9-AS1_ENST00000440197.2_RNA	NM_016065.3	NP_057149.1	Q9Y3D3	RT16_HUMAN	mitochondrial ribosomal protein S16	79					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	structural constituent of ribosome (GO:0003735)	p.C79C(1)		large_intestine(2)|lung(2)	4	Prostate(51;0.0119)					GGTGGGCCCCGCAGCCAATCC	0.502																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											108.0	114.0	112.0					10																	75011558		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB051351	CCDS7323.1	10q22.1	2012-09-13			ENSG00000182180	ENSG00000182180		"""Mitochondrial ribosomal proteins / small subunits"""	14048	protein-coding gene	gene with protein product		609204				10810093	Standard	NM_016065		Approved	CGI-132	uc001jts.1	Q9Y3D3	OTTHUMG00000018454	ENST00000372945.3:c.237C>T	10.37:g.75011558G>A			B4E032|Q96Q60	Silent	SNP	pfam_Ribosomal_S16,superfamily_Ribosomal_S16_dom,tigrfam_Ribosomal_S16	p.C79	ENST00000372945.3	37	c.237	CCDS7323.1	10																																																																																			MRPS16	-	pfam_Ribosomal_S16,superfamily_Ribosomal_S16_dom,tigrfam_Ribosomal_S16	ENSG00000182180		0.502	MRPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS16	HGNC	protein_coding	OTTHUMT00000048616.1	42	0.00	0	G			75011558	75011558	-1	no_errors	ENST00000372945	ensembl	human	known	69_37n	silent	38	29.63	16	SNP	0.957	A
MUC4	4585	genome.wustl.edu	37	3	195505918	195505918	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr3:195505918G>T	ENST00000463781.3	-	2	12992	c.12533C>A	c.(12532-12534)cCt>cAt	p.P4178H	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P4178H	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.A4166_S4181delASSVSTGHGTPLPVTS(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCTGGTGACAGGAAGAGGGGT	0.592																																						dbGAP											2	Deletion - In frame(2)	upper_aerodigestive_tract(1)|stomach(1)											18.0	11.0	13.0					3																	195505918		604	1352	1956	-	-	-	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12533C>A	3.37:g.195505918G>T	ENSP00000417498:p.Pro4178His		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom	p.P4178H	ENST00000463781.3	37	c.12533	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	g	4.276	0.050397	0.08243	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.36699	1.29;1.24	.	.	.	.	.	.	.	.	T	0.37461	0.1004	N	0.19112	0.55	0.09310	N	1	D	0.67145	0.996	D	0.74023	0.982	T	0.18681	-1.0329	7	.	.	.	.	6.4837	0.22077	2.0E-4:0.0:0.9998:0.0	.	4050	E7ESK3	.	H	4178	ENSP00000417498:P4178H;ENSP00000420243:P4178H	.	P	-	2	0	MUC4	196990697	0.021000	0.18746	0.018000	0.16275	0.045000	0.14185	1.685000	0.37659	0.414000	0.25790	0.074000	0.15403	CCT	MUC4	-	NULL	ENSG00000145113		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	44	0.00	0	G	NM_018406		195505918	195505918	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	missense	60	11.76	8	SNP	0.150	T
NFATC4	4776	genome.wustl.edu	37	14	24846879	24846879	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr14:24846879C>T	ENST00000250373.4	+	10	2818	c.2677C>T	c.(2677-2679)Cct>Tct	p.P893S	NFATC4_ENST00000554473.1_Missense_Mutation_p.P320S|NFATC4_ENST00000557767.1_Missense_Mutation_p.P73S|NFATC4_ENST00000554591.1_Missense_Mutation_p.P848S|NFATC4_ENST00000555590.1_Missense_Mutation_p.P906S|NFATC4_ENST00000413692.2_3'UTR|NFATC4_ENST00000554661.1_Missense_Mutation_p.P715S|NFATC4_ENST00000556759.1_Missense_Mutation_p.P428S|NFATC4_ENST00000555453.1_Missense_Mutation_p.P881S|NFATC4_ENST00000557451.1_3'UTR|NFATC4_ENST00000422617.3_3'UTR|NFATC4_ENST00000555167.1_3'UTR|NFATC4_ENST00000424781.2_3'UTR|NFATC4_ENST00000555393.1_3'UTR|NFATC4_ENST00000554966.1_Missense_Mutation_p.P798S|NFATC4_ENST00000555802.1_Missense_Mutation_p.P181S|NFATC4_ENST00000553879.1_Missense_Mutation_p.P823S|NFATC4_ENST00000539237.2_3'UTR|NFATC4_ENST00000554050.1_Missense_Mutation_p.P785S|NFATC4_ENST00000556279.1_Missense_Mutation_p.P925S|NFATC4_ENST00000553469.1_Missense_Mutation_p.P817S|NFATC4_ENST00000554344.1_Missense_Mutation_p.P823S|NFATC4_ENST00000556169.1_Missense_Mutation_p.P773S|NFATC4_ENST00000553708.1_3'UTR	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	893					cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		GAGTGGCTTCCCTGCACCTCC	0.602																																						dbGAP											0													121.0	99.0	106.0					14																	24846879		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.2677C>T	14.37:g.24846879C>T	ENSP00000250373:p.Pro893Ser		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.P925S	ENST00000250373.4	37	c.2773	CCDS9629.1	14	.	.	.	.	.	.	.	.	.	.	C	16.86	3.239468	0.58995	.	.	ENSG00000100968	ENST00000554591;ENST00000555590;ENST00000554966;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000555453;ENST00000554473;ENST00000556759;ENST00000557767;ENST00000555802	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.65364	2.36;3.21;2.46;3.2;2.41;2.49;3.22;2.9;2.9;2.19;2.08;2.88;0.63;1.02;-0.15	5.72	2.94	0.34122	.	0.228496	0.31554	N	0.007447	T	0.44973	0.1319	N	0.19112	0.55	0.37074	D	0.898675	B;B;B;B;B;B;B;B;B	0.20671	0.002;0.002;0.019;0.047;0.002;0.004;0.047;0.047;0.001	B;B;B;B;B;B;B;B;B	0.23419	0.007;0.011;0.019;0.046;0.019;0.019;0.046;0.046;0.009	T	0.47018	-0.9149	10	0.62326	D	0.03	.	8.7077	0.34365	0.0:0.7558:0.0:0.2442	.	773;881;817;925;798;906;956;848;893	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-2;Q14934-11;Q14934	.;.;.;.;.;.;.;.;NFAC4_HUMAN	S	848;906;798;925;817;785;893;823;823;715;773;881;320;428;73;181	ENSP00000452039:P848S;ENSP00000451224:P906S;ENSP00000450644:P798S;ENSP00000452270:P925S;ENSP00000451502:P817S;ENSP00000451151:P785S;ENSP00000250373:P893S;ENSP00000452349:P823S;ENSP00000450469:P823S;ENSP00000450733:P715S;ENSP00000451454:P773S;ENSP00000450686:P881S;ENSP00000450810:P320S;ENSP00000451183:P428S;ENSP00000451590:P181S	ENSP00000250373:P893S	P	+	1	0	NFATC4	23916719	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.508000	0.53378	0.773000	0.33404	0.655000	0.94253	CCT	NFATC4	-	NULL	ENSG00000100968		0.602	NFATC4-001	KNOWN	basic|CCDS	protein_coding	NFATC4	HGNC	protein_coding	OTTHUMT00000073206.6	36	0.00	0	C	NM_004554		24846879	24846879	+1	no_errors	ENST00000556279	ensembl	human	known	69_37n	missense	17	39.29	11	SNP	1.000	T
NOL4	8715	genome.wustl.edu	37	18	31685119	31685120	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr18:31685119_31685120delTG	ENST00000261592.5	-	3	716_717	c.419_420delCA	c.(418-420)tcafs	p.S140fs	NOL4_ENST00000535475.1_5'UTR|NOL4_ENST00000589544.1_Frame_Shift_Del_p.S140fs|NOL4_ENST00000538587.1_Frame_Shift_Del_p.S66fs|NOL4_ENST00000269185.4_Frame_Shift_Del_p.S26fs	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	140						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CATAGCTCTCTGAAATCTGAAA	0.371																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.419_420delCA	18.37:g.31685119_31685120delTG	ENSP00000261592:p.Ser140fs		B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Frame_Shift_Del	DEL	NULL	p.S140fs	ENST00000261592.5	37	c.420_419	CCDS11907.2	18																																																																																			NOL4	-	NULL	ENSG00000101746		0.371	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL4	HGNC	protein_coding	OTTHUMT00000255386.1	26	0.00	0	TG	NM_003787		31685119	31685120	-1	no_errors	ENST00000261592	ensembl	human	known	69_37n	frame_shift_del	20	25.00	7	DEL	1.000:1.000	-
OR2B6	26212	genome.wustl.edu	37	6	27925280	27925280	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr6:27925280A>G	ENST00000244623.1	+	1	262	c.262A>G	c.(262-264)Atc>Gtc	p.I88V		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTTATGCAGCATCAGGAAAGT	0.423																																						dbGAP											0													89.0	84.0	86.0					6																	27925280		2203	4299	6502	-	-	-	SO:0001583	missense	0			U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"""GPCR / Class A : Olfactory receptors"""	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.262A>G	6.37:g.27925280A>G	ENSP00000244623:p.Ile88Val		O43883|Q6IF89|Q9H5B0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.I88V	ENST00000244623.1	37	c.262	CCDS4642.1	6	.	.	.	.	.	.	.	.	.	.	a	2.986	-0.209230	0.06140	.	.	ENSG00000124657	ENST00000244623	T	0.01323	5.01	3.68	-1.68	0.08212	GPCR, rhodopsin-like superfamily (1);	0.990753	0.08160	U	0.988653	T	0.00241	0.0007	N	0.02539	-0.55	0.09310	N	1	B	0.12013	0.005	B	0.15052	0.012	T	0.43589	-0.9382	10	0.62326	D	0.03	.	0.9389	0.01351	0.3104:0.1805:0.3332:0.1758	.	88	P58173	OR2B6_HUMAN	V	88	ENSP00000244623:I88V	ENSP00000244623:I88V	I	+	1	0	OR2B6	28033259	0.000000	0.05858	0.029000	0.17559	0.118000	0.20060	-1.479000	0.02327	-0.197000	0.10350	0.460000	0.39030	ATC	OR2B6	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000124657		0.423	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2B6	HGNC	protein_coding	OTTHUMT00000040165.1	54	0.00	0	A			27925280	27925280	+1	no_errors	ENST00000244623	ensembl	human	known	69_37n	missense	27	30.77	12	SNP	0.000	G
PAGE5	90737	genome.wustl.edu	37	X	55248225	55248225	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chrX:55248225G>C	ENST00000289619.5	+	3	412	c.167G>C	c.(166-168)cGt>cCt	p.R56P	PAGE5_ENST00000374955.3_Missense_Mutation_p.R36P|PAGE5_ENST00000374952.1_Missense_Mutation_p.R36P	NM_130467.3	NP_569734.2	Q96GU1	PAGE5_HUMAN	P antigen family, member 5 (prostate associated)	56										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						GAGGAAAAACGTCAAGAAGAG	0.438																																						dbGAP											0													113.0	79.0	90.0					X																	55248225		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ344352	CCDS14368.1, CCDS35306.1	Xp11.22	2009-08-18			ENSG00000158639	ENSG00000158639			29992	protein-coding gene	gene with protein product	"""cancer/testis antigen family 16, member 1"", ""cancer/testis antigen family 16, member 2"""					11920606, 11992404	Standard	XM_006724613		Approved	PAGE-5, CT16.1, CT16.2	uc004duk.3	Q96GU1	OTTHUMG00000021650	ENST00000289619.5:c.167G>C	X.37:g.55248225G>C	ENSP00000289619:p.Arg56Pro		Q2NL97|Q5JUL0|Q8WWL9	Missense_Mutation	SNP	pfam_GAGE	p.R56P	ENST00000289619.5	37	c.167	CCDS14368.1	X	.	.	.	.	.	.	.	.	.	.	.	9.711	1.157122	0.21454	.	.	ENSG00000158639	ENST00000289619;ENST00000374955;ENST00000374952	T;T;T	0.08102	3.13;3.13;3.13	1.09	-2.18	0.07037	.	.	.	.	.	T	0.03095	0.0091	N	0.12961	0.28	0.09310	N	1	B	0.15473	0.013	B	0.13407	0.009	T	0.44143	-0.9347	9	0.02654	T	1	.	2.9995	0.06009	0.0:0.3171:0.4164:0.2666	.	56	Q96GU1	GGEE1_HUMAN	P	56;36;36	ENSP00000289619:R56P;ENSP00000364093:R36P;ENSP00000364090:R36P	ENSP00000289619:R56P	R	+	2	0	PAGE5	55264950	0.000000	0.05858	0.000000	0.03702	0.392000	0.30506	-1.574000	0.02133	-0.957000	0.03627	0.279000	0.19357	CGT	PAGE5	-	pfam_GAGE	ENSG00000158639		0.438	PAGE5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAGE5	HGNC	protein_coding	OTTHUMT00000056861.1	42	0.00	0	G	NM_130467		55248225	55248225	+1	no_errors	ENST00000289619	ensembl	human	known	69_37n	missense	53	19.70	13	SNP	0.000	C
PIK3CA	5290	genome.wustl.edu	37	3	178952074	178952074	+	Missense_Mutation	SNP	G	G	C	rs121913283		TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr3:178952074G>C	ENST00000263967.3	+	21	3286	c.3129G>C	c.(3127-3129)atG>atC	p.M1043I	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		M -> I (in MCAP and CRC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.M1043I(66)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAACAAATGAATGATGCAC	0.368		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	66	Substitution - Missense(66)	large_intestine(36)|endometrium(11)|breast(6)|urinary_tract(4)|lung(4)|cervix(2)|thyroid(1)|central_nervous_system(1)|ovary(1)											98.0	88.0	91.0					3																	178952074		1907	4120	6027	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3129G>C	3.37:g.178952074G>C	ENSP00000263967:p.Met1043Ile		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.M1043I	ENST00000263967.3	37	c.3129	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	15.52	2.859141	0.51376	.	.	ENSG00000121879	ENST00000263967	T	0.75260	-0.92	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.42944	0.1225	N	0.00500	-1.43	0.80722	D	1	B	0.25955	0.138	B	0.19666	0.026	T	0.58662	-0.7597	10	0.02654	T	1	-20.5202	20.6721	0.99693	0.0:0.0:1.0:0.0	.	1043	P42336	PK3CA_HUMAN	I	1043	ENSP00000263967:M1043I	ENSP00000263967:M1043I	M	+	3	0	PIK3CA	180434768	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.367000	0.97148	2.894000	0.99253	0.591000	0.81541	ATG	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	22	0.00	0	G			178952074	178952074	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	5	73.68	14	SNP	1.000	C
PIP5KL1	138429	genome.wustl.edu	37	9	130688041	130688041	+	Intron	SNP	C	C	G			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr9:130688041C>G	ENST00000388747.4	-	8	808				PIP5KL1_ENST00000300432.3_Intron|PIP5KL1_ENST00000490773.1_Intron	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1							cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						cggcgcccggccgaatctggg	0.592																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC042184	CCDS6885.1, CCDS48030.1	9q34.13	2008-02-05			ENSG00000167103	ENSG00000167103			28711	protein-coding gene	gene with protein product		612865				12477932	Standard	NM_001135219		Approved	bA203J24.5, MGC46424	uc011mao.2	Q5T9C9	OTTHUMG00000020719	ENST00000388747.4:c.763+104G>C	9.37:g.130688041C>G			Q8IVS3	RNA	SNP	-	NULL	ENST00000388747.4	37	NULL	CCDS48030.1	9																																																																																			PIP5KL1	-	-	ENSG00000167103		0.592	PIP5KL1-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PIP5KL1	HGNC	protein_coding	OTTHUMT00000054289.2	28	0.00	0	C	NM_173492		130688041	130688041	-1	no_errors	ENST00000476624	ensembl	human	known	69_37n	rna	14	36.36	8	SNP	0.003	G
PKD1	5310	genome.wustl.edu	37	16	2142112	2142112	+	Missense_Mutation	SNP	C	C	T	rs200120839		TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr16:2142112C>T	ENST00000262304.4	-	40	11555	c.11347G>A	c.(11347-11349)Gtt>Att	p.V3783I	MIR1225_ENST00000408729.1_RNA|RP11-304L19.1_ENST00000570072.1_RNA|RP11-304L19.3_ENST00000565937.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.V3782I	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3783					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCCCAGCCAACGTCGTAATCG	0.667													c|||	1	0.000199681	0.0	0.0	5008	,	,		16336	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													45.0	43.0	44.0					16																	2142112		2198	4298	6496	-	-	-	SO:0001583	missense	0			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.11347G>A	16.37:g.2142112C>T	ENSP00000262304:p.Val3783Ile		Q15140|Q15141	Missense_Mutation	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,prints_PKD_1,tigrfam_Polycystin_cat	p.V3783I	ENST00000262304.4	37	c.11347	CCDS32369.1	16	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	2.059	-0.415885	0.04766	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.69806	-0.43;-0.43	4.37	-3.59	0.04583	Polycystin cation channel, PKD1/PKD2 (1);	0.986824	0.08257	N	0.973695	T	0.33294	0.0858	N	0.05510	-0.035	0.09310	N	1	P;B	0.47484	0.896;0.112	B;B	0.32211	0.142;0.051	T	0.31420	-0.9944	10	0.22109	T	0.4	.	7.2153	0.25957	0.0:0.6452:0.1188:0.2361	.	3782;3783	P98161-3;P98161	.;PKD1_HUMAN	I	3783;3782;3117	ENSP00000262304:V3783I;ENSP00000399501:V3782I	ENSP00000262304:V3783I	V	-	1	0	PKD1	2082113	0.000000	0.05858	0.079000	0.20413	0.056000	0.15407	-1.092000	0.03366	-0.990000	0.03481	0.313000	0.20887	GTT	PKD1	-	pfam_PKD1_2_channel	ENSG00000008710		0.667	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	33	0.00	0	C			2142112	2142112	-1	no_errors	ENST00000262304	ensembl	human	known	69_37n	missense	27	28.95	11	SNP	0.028	T
PRDX1	5052	genome.wustl.edu	37	1	45984654	45984654	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr1:45984654A>G	ENST00000262746.1	-	2	401	c.62T>C	c.(61-63)aTg>aCg	p.M21T	PRDX1_ENST00000372079.1_Intron|PRDX1_ENST00000483583.1_5'UTR|PRDX1_ENST00000319248.8_Missense_Mutation_p.M21T	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1	21	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell proliferation (GO:0008283)|erythrocyte homeostasis (GO:0034101)|hydrogen peroxide catabolic process (GO:0042744)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of NF-kappaB import into nucleus (GO:0042345)|regulation of stress-activated MAPK cascade (GO:0032872)|removal of superoxide radicals (GO:0019430)|retina homeostasis (GO:0001895)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)	heme binding (GO:0020037)|peroxidase activity (GO:0004601)|poly(A) RNA binding (GO:0044822)|thioredoxin peroxidase activity (GO:0008379)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					ACCATCTGGCATAACAGCTGT	0.408																																						dbGAP											0													98.0	96.0	97.0					1																	45984654		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC021683	CCDS522.1	1p34.1	2008-02-05			ENSG00000117450	ENSG00000117450			9352	protein-coding gene	gene with protein product		176763		PAGA		8496166	Standard	NM_181697		Approved	NKEFA	uc021omw.1	Q06830	OTTHUMG00000007738	ENST00000262746.1:c.62T>C	1.37:g.45984654A>G	ENSP00000262746:p.Met21Thr		B5BU26|D3DPZ8|P35703|Q2V576|Q5T154|Q5T155	Missense_Mutation	SNP	pfam_AhpC/TSA,pfam_Redoxin,pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold	p.M21T	ENST00000262746.1	37	c.62	CCDS522.1	1	.	.	.	.	.	.	.	.	.	.	A	18.53	3.643160	0.67244	.	.	ENSG00000117450	ENST00000262746;ENST00000319248;ENST00000447184;ENST00000424390	T;T;T;T	0.16196	2.61;2.61;2.36;2.36	5.67	5.67	0.87782	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.072717	0.85682	D	0.000000	T	0.17577	0.0422	N	0.16833	0.445	0.80722	D	1	B	0.28291	0.206	B	0.39185	0.293	T	0.12553	-1.0543	10	0.87932	D	0	-18.4986	16.2002	0.82067	1.0:0.0:0.0:0.0	.	21	Q06830	PRDX1_HUMAN	T	21	ENSP00000262746:M21T;ENSP00000361152:M21T;ENSP00000407034:M21T;ENSP00000389047:M21T	ENSP00000262746:M21T	M	-	2	0	PRDX1	45757241	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.715000	0.91416	2.285000	0.76669	0.528000	0.53228	ATG	PRDX1	-	pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold	ENSG00000117450		0.408	PRDX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDX1	HGNC	protein_coding	OTTHUMT00000020845.1	58	0.00	0	A	NM_181697		45984654	45984654	-1	no_errors	ENST00000262746	ensembl	human	known	69_37n	missense	42	23.64	13	SNP	1.000	G
RBM10	8241	genome.wustl.edu	37	X	47028833	47028833	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chrX:47028833G>A	ENST00000377604.3	+	3	879	c.137G>A	c.(136-138)cGc>cAc	p.R46H	RBM10_ENST00000345781.6_Missense_Mutation_p.R46H|RBM10_ENST00000329236.7_Missense_Mutation_p.R46H	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	46					3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)	p.R46H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						TCATATCCTCGCGAGTATGGC	0.637																																					Melanoma(171;120 2705 19495 39241)	dbGAP											1	Substitution - Missense(1)	ovary(1)											91.0	58.0	69.0					X																	47028833		2203	4300	6503	-	-	-	SO:0001583	missense	0			U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.137G>A	X.37:g.47028833G>A	ENSP00000366829:p.Arg46His		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom	p.R46H	ENST00000377604.3	37	c.137	CCDS14274.1	X	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907271	0.72868	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	T;T;T	0.20069	2.52;2.1;2.34	4.65	4.65	0.58169	.	0.263378	0.31936	N	0.006822	T	0.30355	0.0762	N	0.24115	0.695	0.26362	N	0.977035	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;0.999	D;P;D;D;D	0.76071	0.984;0.902;0.955;0.984;0.987	T	0.06162	-1.0842	10	0.49607	T	0.09	-10.6527	12.3651	0.55224	0.0:0.0:1.0:0.0	.	46;111;46;46;46	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175	.;.;.;.;RBM10_HUMAN	H	46	ENSP00000366829:R46H;ENSP00000328848:R46H;ENSP00000329659:R46H	ENSP00000328848:R46H	R	+	2	0	RBM10	46913777	1.000000	0.71417	0.766000	0.31476	0.734000	0.41952	6.182000	0.71995	2.056000	0.61249	0.513000	0.50165	CGC	RBM10	-	NULL	ENSG00000182872		0.637	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM10	HGNC	protein_coding	OTTHUMT00000056381.1	73	0.00	0	G	NM_005676		47028833	47028833	+1	no_errors	ENST00000377604	ensembl	human	known	69_37n	missense	43	41.10	30	SNP	0.991	A
RBM39	9584	genome.wustl.edu	37	20	34297186	34297187	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr20:34297186_34297187delAA	ENST00000253363.6	-	13	1207_1208	c.1184_1185delTT	c.(1183-1185)tttfs	p.F395fs	RBM39_ENST00000528062.3_Frame_Shift_Del_p.F373fs|RBM39_ENST00000407261.4_Frame_Shift_Del_p.F238fs|RBM39_ENST00000361162.6_Intron			Q14498	RBM39_HUMAN	RNA binding motif protein 39	395	Interaction with ESR1 and ESR2. {ECO:0000250}.|Interaction with JUN. {ECO:0000250}.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					AATCTATAACAAAAGAGAATTC	0.347																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"""RNA binding motif (RRM) containing"""	15923	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen receptors"", ""functional spliceosome-associated protein 59"""	604739	"""RNA-binding region (RNP1, RRM) containing 2"""	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.1184_1185delTT	20.37:g.34297188_34297189delAA	ENSP00000253363:p.Phe395fs		A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_CC1_SF	p.F395fs	ENST00000253363.6	37	c.1185_1184	CCDS13266.1	20																																																																																			RBM39	-	tigrfam_CC1_SF	ENSG00000131051		0.347	RBM39-002	KNOWN	basic|CCDS	protein_coding	RBM39	HGNC	protein_coding	OTTHUMT00000078931.2	15	0.00	0	AA	NM_184237		34297186	34297187	-1	no_errors	ENST00000253363	ensembl	human	known	69_37n	frame_shift_del	32	25.58	11	DEL	1.000:1.000	-
SGSM1	129049	genome.wustl.edu	37	22	25264385	25264385	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr22:25264385T>C	ENST00000400359.4	+	11	1044	c.1037T>C	c.(1036-1038)aTc>aCc	p.I346T	SGSM1_ENST00000400358.4_Missense_Mutation_p.I346T	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	346	Required for interaction with RAP family members.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CAGGACGGGATCCAGAGGCCG	0.642																																						dbGAP											0													37.0	42.0	40.0					22																	25264385		2018	4161	6179	-	-	-	SO:0001583	missense	0			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.1037T>C	22.37:g.25264385T>C	ENSP00000383212:p.Ile346Thr		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.I346T	ENST00000400359.4	37	c.1037	CCDS46674.1	22	.	.	.	.	.	.	.	.	.	.	T	19.77	3.888495	0.72524	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.32515	1.45;1.45	4.67	3.64	0.41730	.	0.048612	0.85682	N	0.000000	T	0.43545	0.1252	L	0.42245	1.32	0.80722	D	1	P;D;P;D	0.89917	0.607;1.0;0.694;0.983	B;D;P;P	0.83275	0.187;0.996;0.554;0.699	T	0.19192	-1.0313	10	0.48119	T	0.1	-6.6592	9.3073	0.37883	0.0:0.0865:0.0:0.9135	.	346;462;479;346	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	T	462;346;346	ENSP00000383211:I346T;ENSP00000383212:I346T	ENSP00000383211:I346T	I	+	2	0	SGSM1	23594385	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.721000	0.68477	0.775000	0.33450	0.260000	0.18958	ATC	SGSM1	-	NULL	ENSG00000167037		0.642	SGSM1-004	KNOWN	basic|CCDS	protein_coding	SGSM1	HGNC	protein_coding	OTTHUMT00000320282.1	33	0.00	0	T	XM_059318		25264385	25264385	+1	no_errors	ENST00000400359	ensembl	human	known	69_37n	missense	25	37.50	15	SNP	1.000	C
SH2D2A	9047	genome.wustl.edu	37	1	156783649	156783650	+	Missense_Mutation	DNP	GA	GA	TC	rs566716582|rs533916257		TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr1:156783649_156783650GA>TC	ENST00000368199.3	-	5	710_711	c.557_558TC>GA	c.(556-558)cTC>cGA	p.L186R	NTRK1_ENST00000392302.2_5'Flank|SH2D2A_ENST00000368198.3_Missense_Mutation_p.L168R|SH2D2A_ENST00000392306.2_Missense_Mutation_p.L196R|SH2D2A_ENST00000495306.1_5'Flank	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	186	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTGTCGGGCGAGGGGCTCGGT	0.743																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.557_558delinsTC	1.37:g.156783649_156783650delinsTC	ENSP00000357182:p.Leu186Arg		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Silent|Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2	p.L196|p.L196R	ENST00000368199.3	37	c.588|c.587	CCDS1159.1	1																																																																																			SH2D2A	-	pfscan_SH2	ENSG00000027869		0.743	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SH2D2A	HGNC	protein_coding	OTTHUMT00000098982.1	19	0.00	0	G|A	NM_003975		156783649|156783650	156783649|156783650	-1	no_errors	ENST00000392306	ensembl	human	known	69_37n	silent|missense	17	22.73	5	SNP	0.329|0.900	T|C
SHANK2	22941	genome.wustl.edu	37	11	70336336	70336336	+	Intron	SNP	G	G	C			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr11:70336336G>C	ENST00000423696.2	-	13	1451				SHANK2_ENST00000357171.3_Missense_Mutation_p.Q278E|SHANK2_ENST00000409161.1_Intron|SHANK2_ENST00000449116.2_Missense_Mutation_p.Q268E|SHANK2_ENST00000449833.2_Intron|SHANK2_ENST00000409530.1_Missense_Mutation_p.Q277E|SHANK2_ENST00000338508.4_Intron			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2						adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GGCTGTGTTTGAAAGCCCAGG	0.592																																						dbGAP											0													48.0	52.0	51.0					11																	70336336		2200	4294	6494	-	-	-	SO:0001627	intron_variant	0			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.1414+44C>G	11.37:g.70336336G>C			C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.Q278E	ENST00000423696.2	37	c.832		11	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899578	0.33535	.	.	ENSG00000162105	ENST00000409530;ENST00000449116;ENST00000357171	T;T;T	0.55930	0.9;0.49;0.9	4.51	2.56	0.30785	.	.	.	.	.	T	0.36880	0.0983	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.22487	-1.0215	8	0.35671	T	0.21	.	6.2636	0.20913	0.1074:0.2086:0.684:0.0	.	268	B7ZKU9	.	E	277;268;278	ENSP00000387324:Q277E;ENSP00000394939:Q268E;ENSP00000349694:Q278E	ENSP00000349694:Q278E	Q	-	1	0	SHANK2	70013984	0.000000	0.05858	0.024000	0.17045	0.265000	0.26407	-0.181000	0.09740	0.307000	0.22880	0.462000	0.41574	CAA	SHANK2	-	NULL	ENSG00000162105		0.592	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	HGNC	protein_coding		28	0.00	0	G	NM_012309		70336336	70336336	-1	no_errors	ENST00000357171	ensembl	human	known	69_37n	missense	78	16.13	15	SNP	0.005	C
SHANK2	22941	genome.wustl.edu	37	11	70336386	70336386	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr11:70336386G>C	ENST00000423696.2	-	13	1445	c.1409C>G	c.(1408-1410)tCa>tGa	p.S470*	SHANK2_ENST00000357171.3_Nonsense_Mutation_p.S261*|SHANK2_ENST00000409161.1_Nonsense_Mutation_p.S253*|SHANK2_ENST00000449116.2_Nonsense_Mutation_p.S251*|SHANK2_ENST00000449833.2_Nonsense_Mutation_p.S254*|SHANK2_ENST00000409530.1_Nonsense_Mutation_p.S260*|SHANK2_ENST00000338508.4_Nonsense_Mutation_p.S850*			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	470					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CTTACCTATTGATTTCTGCCT	0.572																																						dbGAP											0													97.0	96.0	96.0					11																	70336386		2200	4294	6494	-	-	-	SO:0001587	stop_gained	0			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.1409C>G	11.37:g.70336386G>C	ENSP00000394536:p.Ser470*		C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Nonsense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.S850*	ENST00000423696.2	37	c.2549		11	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191700	0.78902	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018;ENST00000409530;ENST00000449116;ENST00000357171	.	.	.	4.63	4.63	0.57726	.	1.503240	0.03791	N	0.262845	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.5003	0.87730	0.0:0.0:1.0:0.0	.	.	.	.	X	254;253;128;850;470;488;473;260;251;261	.	ENSP00000294018:S473X	S	-	2	0	SHANK2	70014034	1.000000	0.71417	0.940000	0.37924	0.880000	0.50808	6.977000	0.76141	2.109000	0.64355	0.462000	0.41574	TCA	SHANK2	-	NULL	ENSG00000162105		0.572	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	HGNC	protein_coding		40	0.00	0	G	NM_012309		70336386	70336386	-1	no_errors	ENST00000338508	ensembl	human	known	69_37n	nonsense	105	18.60	24	SNP	1.000	C
SLC12A4	6560	genome.wustl.edu	37	16	67979749	67979749	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr16:67979749G>T	ENST00000316341.3	-	21	2905	c.2765C>A	c.(2764-2766)aCc>aAc	p.T922N	SLC12A4_ENST00000338335.3_3'UTR|SLC12A4_ENST00000422611.2_Missense_Mutation_p.T924N|SLC12A4_ENST00000537830.2_Missense_Mutation_p.T916N|SLC12A4_ENST00000576616.1_Missense_Mutation_p.T922N|CTC-479C5.17_ENST00000590594.1_lincRNA|LCAT_ENST00000264005.5_5'Flank|SLC12A4_ENST00000572037.1_Missense_Mutation_p.T874N|SLC12A4_ENST00000541864.2_Missense_Mutation_p.T891N	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	922					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCGCTCGTAGGTGTATGCAGA	0.617																																						dbGAP											0													105.0	85.0	92.0					16																	67979749		2198	4300	6498	-	-	-	SO:0001583	missense	0				CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.2765C>A	16.37:g.67979749G>T	ENSP00000318557:p.Thr922Asn		B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	pfam_AA-permease_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS	p.T924N	ENST00000316341.3	37	c.2771	CCDS10855.1	16	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202141	0.79127	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000316341	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	5.39	5.39	0.77823	.	0.103457	0.64402	D	0.000004	T	0.80177	0.4575	M	0.86953	2.85	0.80722	D	1	D;D;D;D;D;P	0.71674	0.998;0.975;0.996;0.985;0.985;0.939	D;P;D;D;D;B	0.73708	0.981;0.824;0.936;0.94;0.94;0.399	D	0.83463	0.0055	10	0.72032	D	0.01	.	19.1701	0.93574	0.0:0.0:1.0:0.0	.	924;916;891;916;922;922	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	N	924;891;916;922	ENSP00000395983:T924N;ENSP00000438334:T891N;ENSP00000445962:T916N;ENSP00000318557:T922N	ENSP00000318557:T922N	T	-	2	0	SLC12A4	66537250	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	7.967000	0.87967	2.543000	0.85770	0.650000	0.86243	ACC	SLC12A4	-	tigrfam_Na/K/Cl_cotransptS	ENSG00000124067		0.617	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A4	HGNC	protein_coding	OTTHUMT00000268864.4	44	0.00	0	G	NM_005072		67979749	67979749	-1	no_errors	ENST00000422611	ensembl	human	known	69_37n	missense	41	23.64	13	SNP	1.000	T
SLC6A13	6540	genome.wustl.edu	37	12	369124	369124	+	Missense_Mutation	SNP	C	C	G	rs371295073		TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr12:369124C>G	ENST00000343164.4	-	2	147	c.95G>C	c.(94-96)cGg>cCg	p.R32P	RP11-283I3.4_ENST00000540868.1_RNA|SLC6A13_ENST00000445055.2_Missense_Mutation_p.R32P|SLC6A13_ENST00000436453.1_Missense_Mutation_p.R32P	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	32				Missing (in Ref. 1; AAF64247). {ECO:0000305}.	neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CCAGTGCCCCCGCTCCAGGGT	0.512																																						dbGAP											0													263.0	235.0	244.0					12																	369124		2203	4300	6503	-	-	-	SO:0001583	missense	0			U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.95G>C	12.37:g.369124C>G	ENSP00000339260:p.Arg32Pro		B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT2	p.R32P	ENST00000343164.4	37	c.95	CCDS8502.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.168891|5.168891	0.94768|0.94768	.|.	.|.	ENSG00000010379|ENSG00000010379	ENST00000313154|ENST00000445055;ENST00000343164;ENST00000546319;ENST00000436453	.|D;D;D;D	.|0.89415	.|-2.51;-2.51;-2.51;-2.51	5.94|5.94	5.94|5.94	0.96194|0.96194	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97188|0.97188	0.9081|0.9081	H|H	0.98612|0.98612	4.28|4.28	0.43863|0.43863	D|D	0.996464|0.996464	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.999;1.0;1.0	D|D	0.98003|0.98003	1.0361|1.0361	6|10	0.87932|0.87932	D|D	0|0	.|.	20.3594|20.3594	0.98849|0.98849	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|32;32;32	.|B4DJL1;Q8WW56;Q9NSD5	.|.;.;S6A13_HUMAN	R|P	22|32	.|ENSP00000407104:R32P;ENSP00000339260:R32P;ENSP00000444606:R32P;ENSP00000389316:R32P	ENSP00000318097:G22R|ENSP00000339260:R32P	G|R	-|-	1|2	0|0	SLC6A13|SLC6A13	239385|239385	1.000000|1.000000	0.71417|0.71417	0.964000|0.964000	0.40570|0.40570	0.927000|0.927000	0.56198|0.56198	7.818000|7.818000	0.86416|0.86416	2.816000|2.816000	0.96949|0.96949	0.563000|0.563000	0.77884|0.77884	GGG|CGG	SLC6A13	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000010379		0.512	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A13	HGNC	protein_coding	OTTHUMT00000397801.1	67	0.00	0	C	NM_016615		369124	369124	-1	no_errors	ENST00000343164	ensembl	human	known	69_37n	missense	52	17.46	11	SNP	1.000	G
TBC1D8B	54885	genome.wustl.edu	37	X	106093309	106093309	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chrX:106093309A>G	ENST00000357242.5	+	12	2066	c.1892A>G	c.(1891-1893)cAg>cGg	p.Q631R	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.Q625R	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	631	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CACCTTCCTCAGCTGACAGAA	0.378																																						dbGAP											0													205.0	163.0	177.0					X																	106093309		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.1892A>G	X.37:g.106093309A>G	ENSP00000349781:p.Gln631Arg		B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom	p.Q631R	ENST00000357242.5	37	c.1892	CCDS14522.1	X	.	.	.	.	.	.	.	.	.	.	A	18.43	3.622581	0.66787	.	.	ENSG00000133138	ENST00000357242;ENST00000276175	T;T	0.04119	3.7;3.7	4.9	4.9	0.64082	Rab-GAP/TBC domain (5);	0.000000	0.85682	D	0.000000	T	0.05777	0.0151	N	0.12961	0.28	0.41046	D	0.985262	D	0.52996	0.957	P	0.56474	0.799	T	0.55872	-0.8072	10	0.15499	T	0.54	-9.6646	8.3028	0.32025	0.8213:0.0:0.0:0.1787	.	631	Q0IIM8	TBC8B_HUMAN	R	631;625	ENSP00000349781:Q631R;ENSP00000276175:Q625R	ENSP00000276175:Q625R	Q	+	2	0	TBC1D8B	105979965	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.801000	0.62532	1.722000	0.51474	0.481000	0.45027	CAG	TBC1D8B	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000133138		0.378	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D8B	HGNC	protein_coding	OTTHUMT00000057807.2	61	0.00	0	A	NM_017752		106093309	106093309	+1	no_errors	ENST00000357242	ensembl	human	known	69_37n	missense	48	20.00	12	SNP	1.000	G
THBS1	7057	genome.wustl.edu	37	15	39874617	39874619	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	GAA	GAA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr15:39874617_39874619delGAA	ENST00000260356.5	+	3	456_458	c.291_293delGAA	c.(289-294)atgaag>atg	p.K99del		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	99	Laminin G-like.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		TGAGGCAGATGAAGAAGACCCGG	0.616																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.291_293delGAA	15.37:g.39874620_39874622delGAA	ENSP00000260356:p.Lys99del		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	In_Frame_Del	DEL	pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.K99in_frame_del	ENST00000260356.5	37	c.291_293	CCDS32194.1	15																																																																																			THBS1	-	superfamily_ConA-like_lec_gl,smart_Laminin_G	ENSG00000137801		0.616	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS1	HGNC	protein_coding	OTTHUMT00000257831.2	25	0.00	0	GAA	NM_003246		39874617	39874619	+1	no_errors	ENST00000260356	ensembl	human	known	69_37n	in_frame_del	23	30.30	10	DEL	1.000:1.000:1.000	-
TMEM117	84216	genome.wustl.edu	37	12	44783123	44783123	+	3'UTR	SNP	G	G	A	rs7974460	byFrequency	TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr12:44783123G>A	ENST00000266534.3	+	0	2340				TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000551577.1_3'UTR	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		ATGAGGTGATGATACCTAATT	0.373													A|||	778	0.155351	0.466	0.0879	5008	,	,		19037	0.0089		0.0537	False		,,,				2504	0.0389					dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.*668G>A	12.37:g.44783123G>A				RNA	SNP	-	NULL	ENST00000266534.3	37	NULL	CCDS8745.1	12																																																																																			TMEM117	-	-	ENSG00000139173		0.373	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM117	HGNC	protein_coding	OTTHUMT00000403969.1	26	0.00	0	G	NM_032256		44783123	44783123	+1	no_errors	ENST00000546978	ensembl	human	known	69_37n	rna	18	18.18	4	SNP	1.000	A
TPMT	7172	genome.wustl.edu	37	6	18148076	18148076	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr6:18148076C>T	ENST00000309983.4	-	3	296	c.211G>A	c.(211-213)Gga>Aga	p.G71R		NM_000367.2	NP_000358.1	P51580	TPMT_HUMAN	thiopurine S-methyltransferase	71					methylation (GO:0032259)|nucleobase-containing compound metabolic process (GO:0006139)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	thiopurine S-methyltransferase activity (GO:0008119)			large_intestine(2)|lung(1)	3	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.146)	all cancers(50;0.06)|Epithelial(50;0.0654)		Azathioprine(DB00993)|Bendroflumethiazide(DB00436)|Cefazolin(DB01327)|Mercaptopurine(DB01033)|Olsalazine(DB01250)|Trichlormethiazide(DB01021)	ACCGCTTTTCCGCAAAGAGGA	0.348																																					Colon(190;1381 2791 16728 32493)	dbGAP											0			GRCh37	CM085752	TPMT	M							89.0	95.0	93.0					6																	18148076		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4543.1	6p22.3	2014-09-17			ENSG00000137364	ENSG00000137364	2.1.1.67		12014	protein-coding gene	gene with protein product		187680				8316220	Standard	NM_000367		Approved		uc003ncm.3	P51580	OTTHUMG00000014317	ENST00000309983.4:c.211G>A	6.37:g.18148076C>T	ENSP00000312304:p.Gly71Arg		O14806|O15423|O15424|O15425|O15426|O15515|O15548|O43213|Q5VUK6|Q9UBE6|Q9UBT8|Q9UE62	Missense_Mutation	SNP	pfam_TPMT,pirsf_Thiopurine_S-MeTrfase	p.G71R	ENST00000309983.4	37	c.211	CCDS4543.1	6	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170339	0.78452	.	.	ENSG00000137364	ENST00000309983	D	0.93307	-3.2	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.97611	0.9217	H	0.95004	3.61	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.75020	0.985;0.936	D	0.98331	1.0533	10	0.72032	D	0.01	-27.7648	18.1183	0.89563	0.0:1.0:0.0:0.0	.	71;71	Q9BS45;P51580	.;TPMT_HUMAN	R	71	ENSP00000312304:G71R	ENSP00000312304:G71R	G	-	1	0	TPMT	18256055	1.000000	0.71417	0.999000	0.59377	0.644000	0.38419	5.260000	0.65490	2.596000	0.87737	0.655000	0.94253	GGA	TPMT	-	pfam_TPMT,pirsf_Thiopurine_S-MeTrfase	ENSG00000137364		0.348	TPMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPMT	HGNC	protein_coding	OTTHUMT00000039960.1	35	0.00	0	C			18148076	18148076	-1	no_errors	ENST00000309983	ensembl	human	known	69_37n	missense	29	50.82	31	SNP	1.000	T
TRIM15	89870	genome.wustl.edu	37	6	30131731	30131731	+	Silent	SNP	C	C	T			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr6:30131731C>T	ENST00000376694.4	+	1	739	c.270C>T	c.(268-270)atC>atT	p.I90I	TRIM15_ENST00000376688.1_Silent_p.I90I	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	90					innate immune response (GO:0045087)|mesodermal cell fate determination (GO:0007500)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						GCGAGAAGATCTACTTCTTCT	0.637																																						dbGAP											0													102.0	63.0	77.0					6																	30131731		1511	2709	4220	-	-	-	SO:0001819	synonymous_variant	0			AF220132, U34249	CCDS4677.1	6p21.33	2013-01-09	2011-01-25		ENSG00000204610	ENSG00000204610		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16284	protein-coding gene	gene with protein product			"""zinc finger protein 178"", ""tripartite motif-containing 15"""	ZNF178		11331580, 8304341, 8812418	Standard	NM_033229		Approved	ZNFB7, RNF93	uc010jrx.3	Q9C019	OTTHUMG00000031031	ENST00000376694.4:c.270C>T	6.37:g.30131731C>T			A2BEC9|O95604|Q8IUX9|Q9C018	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.I90	ENST00000376694.4	37	c.270	CCDS4677.1	6																																																																																			TRIM15	-	pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box	ENSG00000204610		0.637	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM15	HGNC	protein_coding	OTTHUMT00000076026.2	80	0.00	0	C	NM_033229		30131731	30131731	+1	no_errors	ENST00000376694	ensembl	human	known	69_37n	silent	33	36.54	19	SNP	0.802	T
UBR4	23352	genome.wustl.edu	37	1	19474500	19474500	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr1:19474500T>C	ENST00000375254.3	-	51	7643	c.7616A>G	c.(7615-7617)tAc>tGc	p.Y2539C	UBR4_ENST00000375267.2_Missense_Mutation_p.Y2539C|UBR4_ENST00000375226.2_Missense_Mutation_p.Y2550C|UBR4_ENST00000375217.2_Missense_Mutation_p.Y2539C	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2539					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GTGGCTGTGGTAGGCCGAGCG	0.537																																						dbGAP											0													58.0	58.0	58.0					1																	19474500		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.7616A>G	1.37:g.19474500T>C	ENSP00000364403:p.Tyr2539Cys		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.Y2539C	ENST00000375254.3	37	c.7616	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.231479	0.79688	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.45276	0.94;0.94;0.94;0.9	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.61236	0.2331	L	0.58810	1.83	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.63350	-0.6657	10	0.62326	D	0.03	.	15.8836	0.79222	0.0:0.0:0.0:1.0	.	2539	Q5T4S7	UBR4_HUMAN	C	2539;2539;2539;2550;154;1260	ENSP00000364403:Y2539C;ENSP00000364416:Y2539C;ENSP00000364365:Y2539C;ENSP00000364374:Y2550C	ENSP00000364365:Y2539C	Y	-	2	0	UBR4	19347087	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.698000	0.84413	2.162000	0.67917	0.254000	0.18369	TAC	UBR4	-	superfamily_ARM-type_fold	ENSG00000127481		0.537	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	30	0.00	0	T	NM_020765		19474500	19474500	-1	no_errors	ENST00000375267	ensembl	human	known	69_37n	missense	9	52.63	10	SNP	1.000	C
USP36	57602	genome.wustl.edu	37	17	76794540	76794540	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr17:76794540G>A	ENST00000542802.3	-	20	3777	c.3334C>T	c.(3334-3336)Cac>Tac	p.H1112Y	USP36_ENST00000449938.2_Missense_Mutation_p.H717Y|USP36_ENST00000312010.6_Missense_Mutation_p.H1112Y			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	1110					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.H1112D(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TTTGCTGGGTGAGTCACAGAC	0.527																																						dbGAP											1	Substitution - Missense(1)	lung(1)											141.0	137.0	138.0					17																	76794540		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.3334C>T	17.37:g.76794540G>A	ENSP00000441214:p.His1112Tyr		Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.H1112Y	ENST00000542802.3	37	c.3334	CCDS32755.1	17	.	.	.	.	.	.	.	.	.	.	g	15.30	2.793815	0.50102	.	.	ENSG00000055483	ENST00000312010;ENST00000449938;ENST00000542802	T;T;T	0.21543	3.07;2.0;3.07	4.52	4.52	0.55395	.	0.168338	0.39759	N	0.001267	T	0.44582	0.1300	M	0.69823	2.125	0.29647	N	0.844269	D;D	0.89917	1.0;0.995	D;P	0.85130	0.997;0.829	T	0.40534	-0.9558	10	0.34782	T	0.22	-17.9309	15.038	0.71764	0.0:0.0:1.0:0.0	.	1112;717	Q9P275-2;E9PEW0	.;.	Y	1112;717;1112	ENSP00000310590:H1112Y;ENSP00000401119:H717Y;ENSP00000441214:H1112Y	ENSP00000310590:H1112Y	H	-	1	0	USP36	74306135	1.000000	0.71417	0.995000	0.50966	0.667000	0.39255	5.960000	0.70348	2.047000	0.60756	0.450000	0.29827	CAC	USP36	-	NULL	ENSG00000055483		0.527	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP36	HGNC	protein_coding	OTTHUMT00000437472.3	34	0.00	0	G	NM_025090		76794540	76794540	-1	no_errors	ENST00000312010	ensembl	human	known	69_37n	missense	50	16.67	10	SNP	0.991	A
WDR38	401551	genome.wustl.edu	37	9	127619645	127619645	+	Silent	SNP	C	C	G			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr9:127619645C>G	ENST00000373574.1	+	8	827	c.771C>G	c.(769-771)gtC>gtG	p.V257V		NM_001045476.1|NM_001276374.1	NP_001038941.1|NP_001263303.1	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	257					hematopoietic progenitor cell differentiation (GO:0002244)					breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TTTTCCAGGTCAAAGTCTGGG	0.557																																						dbGAP											0													73.0	79.0	77.0					9																	127619645		1954	4135	6089	-	-	-	SO:0001819	synonymous_variant	0				CCDS43876.1, CCDS75898.1, CCDS75899.1	9q33.3	2013-01-09			ENSG00000136918	ENSG00000136918		"""WD repeat domain containing"""	23745	protein-coding gene	gene with protein product							Standard	NM_001276375		Approved		uc011lzo.3	Q5JTN6	OTTHUMG00000020664	ENST00000373574.1:c.771C>G	9.37:g.127619645C>G			A0PK24	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V257	ENST00000373574.1	37	c.771	CCDS43876.1	9																																																																																			WDR38	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000136918		0.557	WDR38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR38	HGNC	protein_coding	OTTHUMT00000054048.1	27	0.00	0	C	NM_001045476		127619645	127619645	+1	no_errors	ENST00000373574	ensembl	human	known	69_37n	silent	23	41.03	16	SNP	1.000	G
ZBTB21	49854	genome.wustl.edu	37	21	43414183	43414183	+	Frame_Shift_Del	DEL	T	T	-			TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr21:43414183delT	ENST00000310826.5	-	3	205	c.22delA	c.(22-24)atcfs	p.I8fs	ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398499.1_Frame_Shift_Del_p.I8fs|ZBTB21_ENST00000398511.3_Frame_Shift_Del_p.I8fs|ZBTB21_ENST00000398505.3_Frame_Shift_Del_p.I8fs	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	8					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										GCAGGGTTGATGTAATGCAGT	0.443																																						dbGAP											0													139.0	131.0	134.0					21																	43414183		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.22delA	21.37:g.43414183delT	ENSP00000308759:p.Ile8fs		Q5R2W1|Q5R2W2|Q6P4R0	Frame_Shift_Del	DEL	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.I8fs	ENST00000310826.5	37	c.22	CCDS13678.1	21																																																																																			ZNF295	-	superfamily_BTB/POZ_fold	ENSG00000173276		0.443	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF295	HGNC	protein_coding	OTTHUMT00000195308.1	35	0.00	0	T	NM_020727		43414183	43414183	-1	no_errors	ENST00000310826	ensembl	human	known	69_37n	frame_shift_del	28	37.78	17	DEL	1.000	-
ZNF815P	401303	genome.wustl.edu	37	7	5886722	5886722	+	RNA	SNP	C	C	T	rs570148686		TCGA-C8-A3M8-01A-11D-A20S-09	TCGA-C8-A3M8-10A-01D-A20S-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6ceb3f6f-e531-4f02-ac2b-67e0c1a58918	dd4257ed-800d-4c1d-99db-37991e1b12c8	g.chr7:5886722C>T	ENST00000421890.1	+	0	1132							A8K554	ZN815_HUMAN	zinc finger protein 815, pseudogene																		AGCGAATCCACGCGGAGGTCA	0.552													N|||	1	0.000199681	0.0	0.0014	5008	,	,		25095	0.0		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-			0			AK096288		7p22.1	2012-10-05	2012-04-20	2012-04-20	ENSG00000235944	ENSG00000235944			22029	pseudogene	pseudogene			"""zinc finger protein 815"""	ZNF815			Standard	NR_023382		Approved	FLJ38969	uc003spc.2	A8K554	OTTHUMG00000155501		7.37:g.5886722C>T				RNA	SNP	-	NULL	ENST00000421890.1	37	NULL		7																																																																																			ZNF815P	-	-	ENSG00000235944		0.552	ZNF815P-002	KNOWN	basic	processed_transcript	ZNF815P	HGNC	pseudogene	OTTHUMT00000340385.1	42	0.00	0	C			5886722	5886722	+1	no_errors	ENST00000421890	ensembl	human	known	69_37n	rna	47	29.85	20	SNP	0.000	T
