#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	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_entrez_gene_id	i_filter	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PLA2G2F	64600	broad.mit.edu	37	1	20474835	20474835	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:20474835C>G	ENST00000375102.3	+	5	679	c.577C>G	c.(577-579)Ccg>Gcg	p.P193A		NM_022819.3	NP_073730.3	Q9BZM2	PA2GF_HUMAN	phospholipase A2, group IIF	150					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.P193A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		CATCTATGAACCGCCCCCTGA	0.622																																						uc009vpp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(577-579)CCG>GCG		phospholipase A2, group IIF							110.0	99.0	102.0					1																	20474835		2203	4300	6503	SO:0001583	missense	64600				lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	g.chr1:20474835C>G	AL158172	CCDS204.2	1p35	2008-09-19			ENSG00000158786	ENSG00000158786	3.1.1.4		30040	protein-coding gene	gene with protein product						11112443	Standard	NM_022819		Approved		uc009vpp.1	Q9BZM2	OTTHUMG00000002704	ENST00000375102.3:c.577C>G	1.37:g.20474835C>G	ENSP00000364243:p.Pro193Ala						p.P193A	NM_022819	NP_073730	Q9BZM2	PA2GF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	5	675	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	150					Q5R385|Q8N217|Q9H506	Missense_Mutation	SNP	ENST00000375102.3	37	c.577C>G	CCDS204.2	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067401	0.36470	.	.	ENSG00000158786	ENST00000375102	T	0.29397	1.57	5.08	4.16	0.48862	.	0.245622	0.29015	N	0.013412	T	0.31702	0.0805	L	0.36672	1.1	0.23271	N	0.99801	D	0.56035	0.974	P	0.50270	0.636	T	0.10636	-1.0621	10	0.87932	D	0	-11.8613	9.386	0.38342	0.0:0.8998:0.0:0.1002	.	193	Q9BZM2-2	.	A	193	ENSP00000364243:P193A	ENSP00000364243:P193A	P	+	1	0	PLA2G2F	20347422	0.478000	0.25917	0.521000	0.27850	0.112000	0.19704	2.158000	0.42329	1.122000	0.41944	0.563000	0.77884	CCG		PASS	0.622	PLA2G2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007687.1	NM_022819		31	41	31	41	---	---	---	---
BAI2	576	broad.mit.edu	37	1	32201435	32201435	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:32201435A>G	ENST00000373658.3	-	23	3601	c.3260T>C	c.(3259-3261)aTt>aCt	p.I1087T	BAI2_ENST00000398542.1_Missense_Mutation_p.I1020T|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000398538.1_Missense_Mutation_p.I1075T|BAI2_ENST00000373655.2_Missense_Mutation_p.I1087T|BAI2_ENST00000257070.4_Missense_Mutation_p.I1087T|BAI2_ENST00000398547.1_Missense_Mutation_p.I1020T|BAI2_ENST00000527361.1_Missense_Mutation_p.I1087T|BAI2_ENST00000398556.3_Missense_Mutation_p.I1035T|BAI2_ENST00000440175.2_Missense_Mutation_p.I729T	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1087					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I1087T(1)		breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TACCAGGACAATGACGGCTGC	0.637																																						uc001btn.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13						c.(3259-3261)ATT>ACT		brain-specific angiogenesis inhibitor 2							38.0	35.0	36.0					1																	32201435		2202	4299	6501	SO:0001583	missense	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32201435A>G	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.3260T>C	1.37:g.32201435A>G	ENSP00000362762:p.Ile1087Thr					BAI2_uc001btm.2_5'Flank|BAI2_uc001btp.1_5'UTR|BAI2_uc010ogn.1_Missense_Mutation_p.I90T|BAI2_uc010ogo.1_Missense_Mutation_p.I729T|BAI2_uc010ogp.1_Missense_Mutation_p.I1020T|BAI2_uc010ogq.1_Missense_Mutation_p.I1087T|BAI2_uc001bto.2_Missense_Mutation_p.I1087T	p.I1087T	NM_001703	NP_001694	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	23	3614	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	1087			Helical; Name=5; (Potential).		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	c.3260T>C	CCDS346.2	.	.	.	.	.	.	.	.	.	.	A	16.97	3.268682	0.59540	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538	T;T;T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86	3.86	3.86	0.44501	GPCR, family 2-like (1);	0.000000	0.40144	N	0.001171	T	0.62684	0.2448	M	0.68593	2.085	0.49130	D	0.999753	D;D;D;D;D	0.60160	0.986;0.984;0.987;0.986;0.987	D;P;P;D;P	0.63703	0.917;0.839;0.81;0.917;0.9	T	0.67465	-0.5664	10	0.87932	D	0	.	12.3489	0.55136	1.0:0.0:0.0:0.0	.	1087;1075;729;1087;1087	O60241-4;O60241-3;B4DKC3;O60241-2;O60241	.;.;.;.;BAI2_HUMAN	T	1035;1020;1087;1087;1020;1087;1087;729;1075	ENSP00000381564:I1035T;ENSP00000381555:I1020T;ENSP00000362762:I1087T;ENSP00000362759:I1087T;ENSP00000381550:I1020T;ENSP00000257070:I1087T;ENSP00000435397:I1087T;ENSP00000391071:I729T;ENSP00000381548:I1075T	ENSP00000257070:I1087T	I	-	2	0	BAI2	31974022	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	9.220000	0.95180	1.715000	0.51383	0.379000	0.24179	ATT		PASS	0.637	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		6	5	6	5	---	---	---	---
ZSWIM5	57643	broad.mit.edu	37	1	45501739	45501739	+	Silent	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:45501739C>T	ENST00000359600.5	-	9	2332	c.2127G>A	c.(2125-2127)ctG>ctA	p.L709L	AL359473.1_ENST00000583502.1_RNA	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	709						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)	p.L709L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ATTGTTTTTGCAGTGTTTGCA	0.512																																						uc001cnd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2125-2127)CTG>CTA		zinc finger, SWIM domain containing 5							121.0	118.0	119.0					1																	45501739		2044	4195	6239	SO:0001819	synonymous_variant	57643						zinc ion binding	g.chr1:45501739C>T	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.2127G>A	1.37:g.45501739C>T							p.L709L	NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN			9	2355	-	Acute lymphoblastic leukemia(166;0.155)		709					Q5SXQ9	Silent	SNP	ENST00000359600.5	37	c.2127G>A	CCDS41319.1																																																																																				PASS	0.512	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		39	49	39	49	---	---	---	---
LEPR	3953	broad.mit.edu	37	1	66102055	66102055	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:66102055C>G	ENST00000349533.6	+	20	3040	c.2855C>G	c.(2854-2856)tCt>tGt	p.S952C	LEPR_ENST00000406510.3_Missense_Mutation_p.S19C	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.S952C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GAAAAGGGTTCTGTTTGTATT	0.398																																						uc001dci.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2854-2856)TCT>TGT		leptin receptor isoform 1							137.0	129.0	131.0					1																	66102055		2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66102055C>G	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2855C>G	1.37:g.66102055C>G	ENSP00000330393:p.Ser952Cys					LEPR_uc009waq.2_3'UTR	p.S952C	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	20	3057	+			952			Cytoplasmic (Potential).		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.2855C>G	CCDS631.1	.	.	.	.	.	.	.	.	.	.	C	9.218	1.032760	0.19590	.	.	ENSG00000116678	ENST00000349533;ENST00000406510	T	0.62498	0.02	5.78	3.85	0.44370	.	0.573784	0.20553	N	0.090061	T	0.49525	0.1562	M	0.73962	2.25	0.42985	D	0.994477	P	0.40578	0.722	B	0.38194	0.267	T	0.60677	-0.7216	10	0.72032	D	0.01	-11.6294	11.7191	0.51672	0.0:0.8093:0.1237:0.067	.	952	P48357	LEPR_HUMAN	C	952;19	ENSP00000330393:S952C	ENSP00000330393:S952C	S	+	2	0	LEPR	65874643	0.982000	0.34865	0.450000	0.26969	0.031000	0.12232	2.783000	0.47766	1.444000	0.47605	-0.145000	0.13849	TCT		PASS	0.398	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		53	71	53	71	---	---	---	---
MCOLN3	55283	broad.mit.edu	37	1	85510898	85510898	+	Missense_Mutation	SNP	G	G	T	rs201349914		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:85510898G>T	ENST00000370589.2	-	2	198	c.146C>A	c.(145-147)cCc>cAc	p.P49H	MCOLN3_ENST00000370587.1_Missense_Mutation_p.P49H|WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Missense_Mutation_p.P49H	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	49					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P49H(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		CTTCTCACAGGGATTCATGAA	0.398																																						uc001dkp.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(145-147)CCC>CAC		mucolipin 3							90.0	89.0	89.0					1																	85510898		2203	4300	6503	SO:0001583	missense	55283					integral to membrane	ion channel activity	g.chr1:85510898G>T	AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.146C>A	1.37:g.85510898G>T	ENSP00000359621:p.Pro49His					MCOLN3_uc001dkq.2_Missense_Mutation_p.P49H|MCOLN3_uc001dkr.2_Missense_Mutation_p.P49H|MCOLN3_uc001dks.3_5'UTR	p.P49H	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN		all cancers(265;0.00957)|Epithelial(280;0.0254)	2	239	-			49					Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	37	c.146C>A	CCDS701.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.719132	0.89205	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115;ENST00000370587	T;T;T	0.71817	-0.6;-0.6;-0.6	5.55	5.55	0.83447	.	0.049227	0.85682	D	0.000000	D	0.86301	0.5900	M	0.89715	3.055	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.88520	0.3095	10	0.87932	D	0	-16.1055	19.5127	0.95148	0.0:0.0:1.0:0.0	.	49;49;49	B1ANB7;Q8TDD5-2;Q8TDD5	.;.;MCLN3_HUMAN	H	49	ENSP00000359621:P49H;ENSP00000342698:P49H;ENSP00000359619:P49H	ENSP00000304843:P49H	P	-	2	0	MCOLN3	85283486	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.386000	0.97228	2.614000	0.88457	0.491000	0.48974	CCC		PASS	0.398	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298		30	46	30	46	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103364528	103364528	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:103364528G>T	ENST00000370096.3	-	55	4421	c.4109C>A	c.(4108-4110)gCa>gAa	p.A1370E	COL11A1_ENST00000358392.2_Missense_Mutation_p.A1382E|COL11A1_ENST00000512756.1_Missense_Mutation_p.A1254E|COL11A1_ENST00000353414.4_Missense_Mutation_p.A1331E	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1370	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.A1370E(1)|p.A1382E(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCTTCCCTCTGCACCTGCAGC	0.269																																						uc001dul.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(4108-4110)GCA>GAA		alpha 1 type XI collagen isoform A							44.0	44.0	44.0					1																	103364528		2201	4299	6500	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103364528G>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4109C>A	1.37:g.103364528G>T	ENSP00000359114:p.Ala1370Glu					COL11A1_uc001duk.2_Missense_Mutation_p.A566E|COL11A1_uc001dum.2_Missense_Mutation_p.A1382E|COL11A1_uc001dun.2_Missense_Mutation_p.A1331E|COL11A1_uc009weh.2_Missense_Mutation_p.A1254E	p.A1370E	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	55	4427	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1370			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.4109C>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.635383	0.47049	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.94330	-3.4;-3.4;-3.4;-3.4	6.06	5.16	0.70880	.	0.662161	0.14945	N	0.289256	D	0.85682	0.5753	N	0.04724	-0.175	0.43408	D	0.995542	B;B;P;B;B	0.37708	0.029;0.023;0.606;0.013;0.023	B;B;P;B;B	0.49012	0.081;0.049;0.598;0.027;0.06	D	0.85741	0.1337	10	0.32370	T	0.25	.	14.7822	0.69774	0.0687:0.0:0.9313:0.0	.	1254;1331;1382;1370;590	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	E	1370;1382;1331;590;1254	ENSP00000359114:A1370E;ENSP00000351163:A1382E;ENSP00000302551:A1331E;ENSP00000426533:A1254E	ENSP00000302551:A1331E	A	-	2	0	COL11A1	103137116	0.997000	0.39634	0.973000	0.42090	0.897000	0.52465	3.682000	0.54656	1.587000	0.49959	-0.133000	0.14855	GCA		PASS	0.269	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		34	65	34	65	---	---	---	---
AKNAD1	254268	broad.mit.edu	37	1	109380322	109380322	+	Silent	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:109380322C>A	ENST00000370001.3	-	7	1654	c.1386G>T	c.(1384-1386)gtG>gtT	p.V462V	AKNAD1_ENST00000369995.3_Silent_p.V462V|AKNAD1_ENST00000357393.4_Silent_p.V169V|AKNAD1_ENST00000369994.1_Silent_p.V462V	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	462						cytoplasm (GO:0005737)		p.V462V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTTCACCTTCCACTTTTCTAA	0.358																																						uc001dwa.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1384-1386)GTG>GTT		hypothetical protein LOC254268							170.0	167.0	168.0					1																	109380322		2203	4300	6503	SO:0001819	synonymous_variant	254268							g.chr1:109380322C>A	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1386G>T	1.37:g.109380322C>A						AKNAD1_uc010ovb.1_Silent_p.V169V|AKNAD1_uc001dwb.2_RNA	p.V462V	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN			7	1655	-			462			Potential.		B9EK62|Q5T1N0|Q8N990|Q8NCN9	Silent	SNP	ENST00000370001.3	37	c.1386G>T	CCDS791.2																																																																																				PASS	0.358	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		50	65	50	65	---	---	---	---
PEX11B	8799	broad.mit.edu	37	1	145522773	145522773	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:145522773G>C	ENST00000369306.3	+	4	783	c.634G>C	c.(634-636)Gtc>Ctc	p.V212L	ITGA10_ENST00000538811.1_5'Flank|ITGA10_ENST00000539363.1_5'Flank|ITGA10_ENST00000369304.3_5'Flank|PEX11B_ENST00000537888.1_Missense_Mutation_p.V198L	NM_003846.2	NP_003837.1	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	212	Interaction with PEX19 and peroxisome targeting.				peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|protein homooligomerization (GO:0051260)|regulation of peroxisome size (GO:0044375)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	protein homodimerization activity (GO:0042803)	p.V212L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCTAGACGTGGTCAGAAATGC	0.577																																						uc001eny.1																			1	Substitution - Missense(1)		lung(1)		0						c.(634-636)GTC>CTC		peroxisomal biogenesis factor 11 beta							164.0	142.0	150.0					1																	145522773		2203	4300	6503	SO:0001583	missense	8799				peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding	g.chr1:145522773G>C	AF093670	CCDS72870.1, CCDS72871.1	1q21	2008-08-26	2008-08-26		ENSG00000131779	ENSG00000131779			8853	protein-coding gene	gene with protein product		603867	"""peroxisomal biogenesis factor 11B"""			9792670	Standard	NM_003846		Approved		uc001eny.2	O96011	OTTHUMG00000013756	ENST00000369306.3:c.634G>C	1.37:g.145522773G>C	ENSP00000358312:p.Val212Leu					NBPF10_uc001emp.3_Intron|PEX11B_uc010oyu.1_Missense_Mutation_p.V198L|ITGA10_uc001enz.1_5'Flank|ITGA10_uc001eoa.2_5'Flank|ITGA10_uc010oyv.1_5'Flank|ITGA10_uc009wiw.2_5'Flank	p.V212L	NM_003846	NP_003837	O96011	PX11B_HUMAN			4	652	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		212			Interaction with PEX19 and peroxisome targeting.		B3KN85|B4DXH9|Q96ET2	Missense_Mutation	SNP	ENST00000369306.3	37	c.634G>C	CCDS917.1	.	.	.	.	.	.	.	.	.	.	G	9.187	1.024990	0.19433	.	.	ENSG00000131779	ENST00000369306;ENST00000537888;ENST00000428634	T;T;T	0.44083	0.93;0.93;0.93	5.32	-1.71	0.08133	.	0.338573	0.28766	N	0.014209	T	0.04998	0.0134	N	0.04203	-0.255	0.31661	N	0.645568	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.34750	-0.9816	10	0.19590	T	0.45	-1.9658	5.5415	0.17041	0.447:0.2684:0.2846:0.0	.	198;212	B4DXH9;O96011	.;PX11B_HUMAN	L	212;198;34	ENSP00000358312:V212L;ENSP00000437510:V198L;ENSP00000414018:V34L	ENSP00000358312:V212L	V	+	1	0	PEX11B	144234130	0.924000	0.31332	0.920000	0.36463	0.998000	0.95712	0.311000	0.19380	-0.511000	0.06514	0.655000	0.94253	GTC		PASS	0.577	PEX11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038549.1	NM_003846		46	140	46	140	---	---	---	---
NBPF14	25832	broad.mit.edu	37	1	148004764	148004764	+	Silent	SNP	T	T	C	rs372816313		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:148004764T>C	ENST00000369219.1	-	22	2566	c.2550A>G	c.(2548-2550)gaA>gaG	p.E850E				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	850	NBPF 10. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.E850E(1)|p.E856G(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CTTCAGGCTCTTCCACTTCCA	0.453																																						uc001eqq.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(1)	1						c.(2548-2550)GAA>GAG		hypothetical protein LOC25832							88.0	148.0	129.0					1																	148004764		1881	4132	6013	SO:0001819	synonymous_variant	25832					cytoplasm		g.chr1:148004764T>C	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.2550A>G	1.37:g.148004764T>C						LOC200030_uc010ozz.1_Intron|LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqf.2_Intron|LOC200030_uc001eqg.2_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Silent_p.E198E|NBPF14_uc010pac.1_Silent_p.E423E	p.E850E	NM_015383	NP_056198	Q5TI25	NBPFE_HUMAN			22	2567	-	all_hematologic(923;0.032)		850			NBPF 10.		Q5TI23|Q8IX76|Q9UJI9	Silent	SNP	ENST00000369219.1	37	c.2550A>G		.	.	.	.	.	.	.	.	.	.	t	0.929	-0.713270	0.03206	.	.	ENSG00000122497	ENST00000310701	.	.	.	0.253	-0.507	0.11985	.	.	.	.	.	T	0.08714	0.0216	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37641	-0.9697	3	.	.	.	.	.	.	.	.	.	.	.	R	856	.	.	K	-	2	0	NBPF14	146471388	0.442000	0.25633	0.001000	0.08648	0.001000	0.01503	0.741000	0.26202	-0.587000	0.05890	-0.576000	0.04144	AAG		PASS	0.453	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		78	71	78	71	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152284056	152284056	+	Silent	SNP	G	G	A	rs199992424		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:152284056G>A	ENST00000368799.1	-	3	3341	c.3306C>T	c.(3304-3306)tcC>tcT	p.S1102S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1102	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S1102S(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTCACGTGCGGACTCTTGGT	0.577									Ichthyosis				G|||	1	0.000199681	0.0	0.0	5008	,	,		20856	0.0		0.001	False		,,,				2504	0.0					uc001ezu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(3304-3306)TCC>TCT		filaggrin							305.0	323.0	317.0					1																	152284056		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152284056G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3306C>T	1.37:g.152284056G>A						uc001ezv.2_5'Flank	p.S1102S	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3342	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1102			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.3306C>T	CCDS30860.1																																																																																				PASS	0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		275	395	275	395	---	---	---	---
NUP210L	91181	broad.mit.edu	37	1	154090312	154090312	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:154090312T>A	ENST00000368559.3	-	12	1580	c.1509A>T	c.(1507-1509)gaA>gaT	p.E503D	NUP210L_ENST00000271854.3_Missense_Mutation_p.E503D	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	503					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.E503D(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGACCACTGTTTCATTAGAAG	0.413																																						uc001fdw.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11						c.(1507-1509)GAA>GAT		nucleoporin 210kDa-like isoform 1							110.0	104.0	106.0					1																	154090312		1908	4124	6032	SO:0001583	missense	91181					integral to membrane		g.chr1:154090312T>A	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1509A>T	1.37:g.154090312T>A	ENSP00000357547:p.Glu503Asp					NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Missense_Mutation_p.E503D	p.E503D	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		12	1581	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		503					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.1509A>T	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	T	10.22	1.290276	0.23478	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.46063	0.88;0.88	4.55	0.658	0.17855	Invasin/intimin cell-adhesion (1);	0.105175	0.42053	D	0.000767	T	0.10165	0.0249	L	0.44542	1.39	0.25733	N	0.985244	B;B	0.25719	0.132;0.034	B;B	0.17098	0.017;0.017	T	0.27468	-1.0073	10	0.19590	T	0.45	-4.8532	4.2765	0.10811	0.0:0.2833:0.1702:0.5465	.	503;503	E7EP56;Q5VU65	.;P210L_HUMAN	D	503	ENSP00000357547:E503D;ENSP00000271854:E503D	ENSP00000271854:E503D	E	-	3	2	NUP210L	152356936	0.846000	0.29590	1.000000	0.80357	0.991000	0.79684	-0.353000	0.07691	0.168000	0.19655	0.455000	0.32223	GAA		PASS	0.413	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		47	139	47	139	---	---	---	---
AQP10	89872	broad.mit.edu	37	1	154295502	154295502	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:154295502G>T	ENST00000324978.3	+	3	317	c.277G>T	c.(277-279)Gga>Tga	p.G93*	AQP10_ENST00000484864.1_Nonsense_Mutation_p.G93*|ATP8B2_ENST00000368487.3_5'Flank|AQP10_ENST00000355197.4_3'UTR	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	93					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.G93*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GTGCATCGTTGGACGCCTCCC	0.522																																						uc001feu.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(277-279)GGA>TGA		aquaporin 10							142.0	132.0	135.0					1																	154295502		2203	4300	6503	SO:0001587	stop_gained	89872				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	g.chr1:154295502G>T	AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"""Ion channels / Aquaporins"""	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.277G>T	1.37:g.154295502G>T	ENSP00000318355:p.Gly93*					AQP10_uc001fev.2_Nonsense_Mutation_p.G93*|ATP8B2_uc001few.2_5'Flank	p.G93*	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		3	317	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		93			Cytoplasmic (Potential).		Q5VYD3|Q5VYD4|Q8NG70	Nonsense_Mutation	SNP	ENST00000324978.3	37	c.277G>T	CCDS1065.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.978263	0.92982	.	.	ENSG00000143595	ENST00000324978;ENST00000484864	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	17.1739	0.86836	0.0:0.0:1.0:0.0	.	.	.	.	X	93	.	ENSP00000318355:G93X	G	+	1	0	AQP10	152562126	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	9.560000	0.98139	2.644000	0.89710	0.555000	0.69702	GGA		PASS	0.522	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429		109	152	109	152	---	---	---	---
DCST2	127579	broad.mit.edu	37	1	154999173	154999173	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:154999173A>T	ENST00000368424.3	-	9	1419	c.1361T>A	c.(1360-1362)cTa>cAa	p.L454Q	DCST2_ENST00000295536.5_Missense_Mutation_p.L454Q	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	454						integral component of membrane (GO:0016021)		p.L454Q(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTCCACGGTTAGAGACACCAA	0.502																																						uc001fgm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1360-1362)CTA>CAA		DC-STAMP domain containing 2							74.0	72.0	72.0					1																	154999173		2203	4300	6503	SO:0001583	missense	127579					integral to membrane		g.chr1:154999173A>T	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.1361T>A	1.37:g.154999173A>T	ENSP00000357409:p.Leu454Gln					DCST2_uc009wpb.2_RNA	p.L454Q	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		9	1441	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		454			Extracellular (Potential).		Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	ENST00000368424.3	37	c.1361T>A	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	A	16.32	3.088870	0.55968	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.35605	1.3;1.3	4.82	4.82	0.62117	Dendritic cell-specific transmembrane protein-like (1);	0.079005	0.47455	D	0.000238	T	0.15392	0.0371	L	0.34521	1.04	0.09310	N	1	P	0.49253	0.921	B	0.41440	0.357	T	0.03325	-1.1048	10	0.62326	D	0.03	-10.9765	11.9283	0.52833	1.0:0.0:0.0:0.0	.	454	Q5T1A1	DCST2_HUMAN	Q	454	ENSP00000357409:L454Q;ENSP00000295536:L454Q	ENSP00000295536:L454Q	L	-	2	0	DCST2	153265797	0.445000	0.25657	0.027000	0.17364	0.865000	0.49528	6.465000	0.73538	1.803000	0.52742	0.402000	0.26972	CTA		PASS	0.502	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		30	44	30	44	---	---	---	---
OR10R2	343406	broad.mit.edu	37	1	158450135	158450135	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:158450135G>A	ENST00000368152.1	+	1	468	c.468G>A	c.(466-468)atG>atA	p.M156I	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M156I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CCACTCTTATGAGCTGGCAGG	0.473																																						uc010pik.1																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|skin(1)	3						c.(466-468)ATG>ATA		olfactory receptor, family 10, subfamily R,							169.0	159.0	163.0					1																	158450135		2203	4300	6503	SO:0001583	missense	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158450135G>A	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.468G>A	1.37:g.158450135G>A	ENSP00000357134:p.Met156Ile					uc001fso.1_RNA	p.M156I	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN			1	468	+	all_hematologic(112;0.0378)		156			Cytoplasmic (Potential).		Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	ENST00000368152.1	37	c.468G>A	CCDS30898.1	.	.	.	.	.	.	.	.	.	.	g	15.66	2.897924	0.52227	.	.	ENSG00000198965	ENST00000368152	T	0.01185	5.21	4.48	3.56	0.40772	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00998	0.0033	M	0.82323	2.585	0.25477	N	0.987772	B	0.27971	0.196	B	0.23574	0.047	T	0.35549	-0.9784	9	0.72032	D;D	0.01;0.01	.	11.7303	0.51732	0.0885:0.0:0.9115:0.0	.	156	Q8NGX6	O10R2_HUMAN	I	156	ENSP00000357134:M156I	ENSP00000357134:M156I;ENSP00000357134:M156I	M	+	3	0	OR10R2	156716759	0.997000	0.39634	0.752000	0.31206	0.727000	0.41649	2.387000	0.44389	1.066000	0.40716	0.655000	0.94253	ATG		PASS	0.473	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		8	261	8	261	---	---	---	---
FCRL6	343413	broad.mit.edu	37	1	159785346	159785346	+	Silent	SNP	G	G	A	rs146819836		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:159785346G>A	ENST00000368106.3	+	10	1201	c.1200G>A	c.(1198-1200)gcG>gcA	p.A400A	FCRL6_ENST00000339348.5_Missense_Mutation_p.G390R|FCRL6_ENST00000321935.6_Missense_Mutation_p.G406R|FCRL6_ENST00000392235.3_Missense_Mutation_p.G304R	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	400						external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.A400A(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					TCATCTGTGCGGAGGTGAGAT	0.522													.|||	1	0.000199681	0.0008	0.0	5008	,	,		21953	0.0		0.0	False		,,,				2504	0.0					uc001fud.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1198-1200)GCG>GCA		Fc receptor-like 6 precursor		G		0,4406		0,0,2203	141.0	135.0	137.0		1200	-7.4	0.0	1	dbSNP_134	137	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	FCRL6	NM_001004310.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		400/435	159785346	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	343413					integral to membrane		g.chr1:159785346G>A	AK131201	CCDS30912.1, CCDS60312.1	1q23.2	2013-01-11			ENSG00000181036	ENSG00000181036		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31910	protein-coding gene	gene with protein product		613562					Standard	NM_001004310		Approved	IFGP6, FLJ16056, FcRH6	uc001fud.4	Q6DN72	OTTHUMG00000035351	ENST00000368106.3:c.1200G>A	1.37:g.159785346G>A						FCRL6_uc001fuc.2_Missense_Mutation_p.G406R|FCRL6_uc009wsz.1_Missense_Mutation_p.G304R|FCRL6_uc009wta.2_Missense_Mutation_p.G390R	p.A400A	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN			10	1242	+	all_hematologic(112;0.0597)		400			Cytoplasmic (Potential).		A1KXW6|A2A4D6|Q6DN73|Q6XRC3|Q6ZNI1	Silent	SNP	ENST00000368106.3	37	c.1200G>A	CCDS30912.1	.	.	.	.	.	.	.	.	.	.	g	0.015	-1.557338	0.00910	0.0	2.33E-4	ENSG00000181036	ENST00000321935;ENST00000339348;ENST00000392235	T;T;T	0.01252	5.35;5.1;5.74	3.71	-7.41	0.01392	.	.	.	.	.	T	0.00241	0.0007	.	.	.	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.46275	-0.9203	8	0.20046	T	0.44	.	2.2436	0.04025	0.4207:0.0906:0.3295:0.1591	.	390;304;406	Q6DN72-3;Q6DN72-4;Q6DN72-2	.;.;.	R	406;390;304	ENSP00000320625:G406R;ENSP00000340949:G390R;ENSP00000376068:G304R	ENSP00000320625:G406R	G	+	1	0	FCRL6	158051970	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	-1.504000	0.02275	-1.830000	0.01199	-0.994000	0.02522	GGA		PASS	0.522	FCRL6-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276853.1	NM_001004310		78	97	78	97	---	---	---	---
ATP1A2	477	broad.mit.edu	37	1	160093036	160093036	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:160093036G>T	ENST00000361216.3	+	4	300	c.211G>T	c.(211-213)Gct>Tct	p.A71S	ATP1A2_ENST00000392233.3_Missense_Mutation_p.A71S	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	71					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.A71S(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GGACGTTCTGGCTCGAGATGG	0.637																																						uc001fvc.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(2)|skin(2)	7						c.(211-213)GCT>TCT		Na+/K+ -ATPase alpha 2 subunit proprotein							110.0	107.0	108.0					1																	160093036		2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160093036G>T	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.211G>T	1.37:g.160093036G>T	ENSP00000354490:p.Ala71Ser					ATP1A2_uc001fvb.2_Missense_Mutation_p.A71S|ATP1A2_uc010piz.1_5'Flank	p.A71S	NM_000702	NP_000693	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		4	343	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		71			Cytoplasmic (Potential).		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.211G>T	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478522	0.26511	.	.	ENSG00000018625	ENST00000361216;ENST00000392233	T;T	0.79352	-1.26;-1.26	5.1	4.19	0.49359	ATPase, P-type cation-transporter, N-terminal (2);	0.113578	0.64402	D	0.000016	T	0.58104	0.2099	L	0.55103	1.725	0.48040	D	0.99957	B	0.02656	0.0	B	0.14023	0.01	T	0.57825	-0.7744	10	0.24483	T	0.36	.	12.2598	0.54645	0.0825:0.0:0.9175:0.0	.	71	P50993	AT1A2_HUMAN	S	71	ENSP00000354490:A71S;ENSP00000376066:A71S	ENSP00000354490:A71S	A	+	1	0	ATP1A2	158359660	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	4.586000	0.60984	1.376000	0.46267	0.561000	0.74099	GCT		PASS	0.637	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		101	105	101	105	---	---	---	---
C1orf111	284680	broad.mit.edu	37	1	162344289	162344289	+	Missense_Mutation	SNP	T	T	G	rs151080283		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:162344289T>G	ENST00000367935.5	-	3	414	c.335A>C	c.(334-336)gAg>gCg	p.E112A	RP11-565P22.6_ENST00000431696.1_Intron	NM_182581.3	NP_872387.2	Q5T0L3	CA111_HUMAN	chromosome 1 open reading frame 111	112								p.E112A(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			GTCATAGGCCTCCAGCTGGCT	0.572																																						uc001gbx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(334-336)GAG>GCG		hypothetical protein LOC284680							130.0	127.0	128.0					1																	162344289		2203	4300	6503	SO:0001583	missense	284680							g.chr1:162344289T>G	BC032957	CCDS1238.1	1q23.3	2008-02-05			ENSG00000171722	ENSG00000171722			27648	protein-coding gene	gene with protein product						12477932	Standard	NM_182581		Approved		uc001gbx.2	Q5T0L3	OTTHUMG00000031375	ENST00000367935.5:c.335A>C	1.37:g.162344289T>G	ENSP00000356912:p.Glu112Ala						p.E112A	NM_182581	NP_872387	Q5T0L3	CA111_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0938)		3	399	-	all_hematologic(112;0.15)		112					Q6X961|Q8NEC3	Missense_Mutation	SNP	ENST00000367935.5	37	c.335A>C	CCDS1238.1	.	.	.	.	.	.	.	.	.	.	T	11.92	1.782934	0.31502	.	.	ENSG00000171722	ENST00000367935	T	0.37058	1.22	4.83	4.83	0.62350	.	0.195815	0.35970	N	0.002875	T	0.30166	0.0756	M	0.72118	2.19	0.27206	N	0.960039	P	0.46142	0.873	P	0.47206	0.541	T	0.40403	-0.9565	9	0.72032	D	0.01	-18.8432	8.8057	0.34936	0.0:0.0:0.19:0.81	.	112	Q5T0L3	CA111_HUMAN	A	112	ENSP00000356912:E112A	ENSP00000356912:E112A	E	-	2	0	C1orf111	160610913	0.986000	0.35501	0.880000	0.34516	0.003000	0.03518	2.139000	0.42149	1.803000	0.52742	0.533000	0.62120	GAG		PASS	0.572	C1orf111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076791.2	NM_182581		179	218	179	218	---	---	---	---
F5	2153	broad.mit.edu	37	1	169511813	169511813	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:169511813G>T	ENST00000367797.3	-	13	2716	c.2515C>A	c.(2515-2517)Cct>Act	p.P839T	F5_ENST00000367796.3_Missense_Mutation_p.P844T	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	839	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.P839T(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GGCTGTAGAGGATCCTCTATA	0.468																																						uc001ggg.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(2515-2517)CCT>ACT		coagulation factor V precursor	Drotrecogin alfa(DB00055)						164.0	160.0	162.0					1																	169511813		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169511813G>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.2515C>A	1.37:g.169511813G>T	ENSP00000356771:p.Pro839Thr						p.P839T	NM_000130	NP_000121	P12259	FA5_HUMAN			13	2660	-	all_hematologic(923;0.208)		839			B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.2515C>A	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	9.997	1.232417	0.22626	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.21191	2.02;2.02	5.67	1.55	0.23275	.	1.090100	0.07067	N	0.834807	T	0.03608	0.0103	L	0.43923	1.385	0.25972	N	0.982482	P	0.35077	0.483	B	0.30943	0.122	T	0.30621	-0.9972	9	0.05351	T	0.99	-2.8234	3.3516	0.07154	0.1619:0.1351:0.5646:0.1384	.	839	P12259	FA5_HUMAN	T	839;844	ENSP00000356771:P839T;ENSP00000356770:P844T	ENSP00000356770:P844T	P	-	1	0	F5	167778437	0.000000	0.05858	0.001000	0.08648	0.170000	0.22686	0.452000	0.21795	0.874000	0.35823	0.585000	0.79938	CCT		PASS	0.468	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		143	211	143	211	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175348687	175348687	+	Splice_Site	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:175348687C>A	ENST00000367674.2	-	9	2672		c.e9+1		TNR_ENST00000263525.2_Splice_Site			Q92752	TENR_HUMAN	tenascin R						associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.?(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GTCTTACTCACCTGTCAGGGT	0.537																																						uc001gkp.1																			1	Unknown(1)		lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.e7+1		tenascin R precursor							75.0	68.0	71.0					1																	175348687		2203	4300	6503	SO:0001630	splice_region_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175348687C>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1963+1G>T	1.37:g.175348687C>A						TNR_uc009wwu.1_Splice_Site_p.D655_splice	p.D655_splice	NM_003285	NP_003276	Q92752	TENR_HUMAN			7	2044	-	Renal(580;0.146)							C9J563|Q15568|Q5R3G0	Splice_Site	SNP	ENST00000367674.2	37	c.1963_splice	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187652	0.57909	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.313	0.90207	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TNR	173615310	1.000000	0.71417	1.000000	0.80357	0.407000	0.30961	6.490000	0.73645	2.408000	0.81797	0.557000	0.71058	.		PASS	0.537	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285	Intron	51	62	51	62	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176640161	176640161	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:176640161T>A	ENST00000367662.3	+	4	3211	c.2047T>A	c.(2047-2049)Ttc>Atc	p.F683I	PAPPA2_ENST00000367661.3_Missense_Mutation_p.F683I	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	683	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.F683I(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CAGTACTCACTTCCTCAACAT	0.512																																						uc001gkz.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(2047-2049)TTC>ATC		pappalysin 2 isoform 1							155.0	156.0	156.0					1																	176640161		2026	4176	6202	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176640161T>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2047T>A	1.37:g.176640161T>A	ENSP00000356634:p.Phe683Ile					PAPPA2_uc001gky.1_Missense_Mutation_p.F683I|PAPPA2_uc009www.2_RNA	p.F683I	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			4	3211	+			683			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.2047T>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.335293	0.81801	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.79749	-1.3;1.52	5.52	4.39	0.52855	Peptidase M43, pregnancy-associated plasma-A (1);	0.202692	0.52532	D	0.000061	T	0.82125	0.4969	L	0.47716	1.5	0.33144	D	0.544831	P;D	0.54601	0.892;0.967	P;P	0.57911	0.824;0.829	D	0.83881	0.0279	10	0.32370	T	0.25	-23.0797	10.8247	0.46625	0.0:0.075:0.0:0.925	.	683;683	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	I	683	ENSP00000356634:F683I;ENSP00000356633:F683I	ENSP00000356633:F683I	F	+	1	0	PAPPA2	174906784	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.168000	0.50801	0.930000	0.37217	0.533000	0.62120	TTC		PASS	0.512	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			165	232	165	232	---	---	---	---
ASTN1	460	broad.mit.edu	37	1	176927505	176927505	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:176927505A>T	ENST00000367654.3	-	10	1947	c.1736T>A	c.(1735-1737)gTg>gAg	p.V579E	ASTN1_ENST00000424564.2_Missense_Mutation_p.V571E|ASTN1_ENST00000361833.2_Missense_Mutation_p.V571E|ASTN1_ENST00000367657.3_Missense_Mutation_p.V571E|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	579					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.V571E(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						ATCCTCCATCACAGTCATGTC	0.532																																						uc001glc.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(1711-1713)GTG>GAG		astrotactin isoform 1							127.0	95.0	106.0					1																	176927505		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176927505A>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1736T>A	1.37:g.176927505A>T	ENSP00000356626:p.Val579Glu					ASTN1_uc001glb.1_Missense_Mutation_p.V571E|ASTN1_uc001gld.1_Missense_Mutation_p.V571E|ASTN1_uc009wwx.1_Missense_Mutation_p.V571E	p.V571E	NM_004319	NP_004310	O14525	ASTN1_HUMAN			10	1924	-			579					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.1712T>A		.	.	.	.	.	.	.	.	.	.	A	29.4	5.007188	0.93287	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.19394	2.15;2.57;2.57;2.15	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.34164	0.0888	L	0.27053	0.805	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.997	D;D;D	0.79108	0.992;0.973;0.973	T	0.12915	-1.0529	10	0.66056	D	0.02	-25.2868	15.2642	0.73649	1.0:0.0:0.0:0.0	.	579;571;571	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	E	571;571;579;571;571	ENSP00000356629:V571E;ENSP00000354536:V571E;ENSP00000356626:V579E;ENSP00000395041:V571E	ENSP00000354536:V571E	V	-	2	0	ASTN1	175194128	1.000000	0.71417	0.994000	0.49952	0.922000	0.55478	9.210000	0.95106	2.080000	0.62538	0.533000	0.62120	GTG		PASS	0.532	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		35	51	35	51	---	---	---	---
ASTN1	460	broad.mit.edu	37	1	177001749	177001749	+	Silent	SNP	T	T	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:177001749T>G	ENST00000367654.3	-	3	919	c.708A>C	c.(706-708)acA>acC	p.T236T	ASTN1_ENST00000424564.2_Silent_p.T236T|ASTN1_ENST00000361833.2_Silent_p.T236T|ASTN1_ENST00000367657.3_Silent_p.T236T|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	236					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.T236T(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCAGGATAGGTGTCTCCCGGA	0.617																																						uc001glc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(706-708)ACA>ACC		astrotactin isoform 1							142.0	99.0	114.0					1																	177001749		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:177001749T>G	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.708A>C	1.37:g.177001749T>G						ASTN1_uc001glb.1_Silent_p.T236T|ASTN1_uc001gld.1_Silent_p.T236T|ASTN1_uc009wwx.1_Silent_p.T236T|ASTN1_uc001gle.3_RNA	p.T236T	NM_004319	NP_004310	O14525	ASTN1_HUMAN			3	920	-			236					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.708A>C																																																																																					PASS	0.617	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		33	115	33	115	---	---	---	---
BRINP2	57795	broad.mit.edu	37	1	177225213	177225213	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:177225213G>T	ENST00000361539.4	+	3	740	c.428G>T	c.(427-429)gGc>gTc	p.G143V		NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	143	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.G143V(1)									AAAAAGTACGGCACTCATTTC	0.448											OREG0014006	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001glf.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(427-429)GGC>GTC		family with sequence similarity 5, member B							73.0	68.0	70.0					1																	177225213		2203	4300	6503	SO:0001583	missense	57795					extracellular region		g.chr1:177225213G>T		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.428G>T	1.37:g.177225213G>T	ENSP00000354481:p.Gly143Val		OREG0014006	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1937	FAM5B_uc010pna.1_5'UTR|FAM5B_uc001glg.2_5'Flank	p.G143V	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN			3	740	+			143					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.428G>T	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048910	0.93740	.	.	ENSG00000198797	ENST00000361539	D	0.99866	-7.3	5.64	5.64	0.86602	Membrane attack complex component/perforin (MACPF) domain (2);	0.000000	0.85682	D	0.000000	D	0.99859	0.9934	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96814	0.9599	10	0.87932	D	0	-38.1728	19.3027	0.94149	0.0:0.0:1.0:0.0	.	143	Q9C0B6	FAM5B_HUMAN	V	143	ENSP00000354481:G143V	ENSP00000354481:G143V	G	+	2	0	FAM5B	175491836	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.731000	0.98807	2.642000	0.89623	0.650000	0.86243	GGC		PASS	0.448	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		63	71	63	71	---	---	---	---
KCNT2	343450	broad.mit.edu	37	1	196434448	196434448	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:196434448T>C	ENST00000294725.9	-	8	1528	c.613A>G	c.(613-615)Aca>Gca	p.T205A	KCNT2_ENST00000609185.1_Missense_Mutation_p.T205A|KCNT2_ENST00000367433.5_Missense_Mutation_p.T205A|KCNT2_ENST00000367431.4_Missense_Mutation_p.T205A|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	205					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.T205A(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CATAGTAATGTAGATATTAAA	0.264																																						uc001gtd.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(1)|skin(1)	7						c.(613-615)ACA>GCA		potassium channel, subfamily T, member 2							57.0	61.0	60.0					1																	196434448		2201	4273	6474	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196434448T>C	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.613A>G	1.37:g.196434448T>C	ENSP00000294725:p.Thr205Ala					KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.T205A|KCNT2_uc001gtf.1_Missense_Mutation_p.T205A|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.T205A|KCNT2_uc009wyv.1_Missense_Mutation_p.T180A	p.T205A	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			8	673	-			205			Helical; Name=Segment S5; (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.613A>G	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.188644	0.78789	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000294725	T;T;T	0.23147	1.92;1.92;1.92	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000003	T	0.42291	0.1196	L	0.60957	1.885	0.80722	D	1	P;P;B;P	0.46277	0.854;0.875;0.041;0.854	P;P;B;P	0.56648	0.803;0.644;0.059;0.803	T	0.20706	-1.0267	10	0.51188	T	0.08	-20.2538	14.2841	0.66235	0.0:0.0:0.0:1.0	.	205;205;205;205	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	A	205;205;26;205	ENSP00000356403:T205A;ENSP00000356401:T205A;ENSP00000294725:T205A	ENSP00000294725:T205A	T	-	1	0	KCNT2	194701071	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.852000	0.75430	2.208000	0.71279	0.455000	0.32223	ACA		PASS	0.264	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		43	157	43	157	---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197403908	197403908	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:197403908A>G	ENST00000367400.3	+	9	3050	c.2915A>G	c.(2914-2916)gAa>gGa	p.E972G	CRB1_ENST00000535699.1_Missense_Mutation_p.E948G|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.E860G|CRB1_ENST00000367397.1_Missense_Mutation_p.E353G|CRB1_ENST00000544212.1_Missense_Mutation_p.E453G	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	972	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E972G(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATTACCAGAGAACTCACCAAT	0.323																																						uc001gtz.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)	9						c.(2914-2916)GAA>GGA		crumbs homolog 1 precursor							75.0	80.0	78.0					1																	197403908		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197403908A>G		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2915A>G	1.37:g.197403908A>G	ENSP00000356370:p.Glu972Gly					CRB1_uc010poz.1_Missense_Mutation_p.E948G|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.E860G|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.E453G|CRB1_uc001gub.1_Missense_Mutation_p.E621G	p.E972G	NM_201253	NP_957705	P82279	CRUM1_HUMAN			9	3050	+			972			Extracellular (Potential).|Laminin G-like 3.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.2915A>G	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	A	14.92	2.679212	0.47886	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38	5.34	4.18	0.49190	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	.	.	.	.	T	0.69196	0.3084	L	0.35288	1.05	0.29820	N	0.830891	B;D;B;P	0.89917	0.012;1.0;0.01;0.953	B;D;B;P	0.80764	0.022;0.994;0.01;0.631	T	0.61540	-0.7042	9	0.25751	T	0.34	.	8.1387	0.31069	0.7928:0.1353:0.0719:0.0	.	948;860;621;972	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	G	948;972;860;453;353;621	ENSP00000438786:E948G;ENSP00000356370:E972G;ENSP00000356369:E860G;ENSP00000444556:E453G;ENSP00000356367:E353G	ENSP00000356367:E353G	E	+	2	0	CRB1	195670531	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	4.650000	0.61440	0.814000	0.34374	0.533000	0.62120	GAA		PASS	0.323	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		74	131	74	131	---	---	---	---
LHX9	56956	broad.mit.edu	37	1	197898178	197898178	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:197898178G>T	ENST00000367387.4	+	5	1408	c.983G>T	c.(982-984)cGg>cTg	p.R328L	LHX9_ENST00000367391.1_Intron|LHX9_ENST00000561173.1_Intron|LHX9_ENST00000337020.2_Intron|LHX9_ENST00000367390.3_Missense_Mutation_p.R319L	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	328					cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R328L(1)|p.R319L(1)		endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						AACCTTTTGCGGCAGGAGAAT	0.512																																						uc001guk.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(982-984)CGG>CTG		LIM homeobox 9 isoform 1							57.0	61.0	60.0					1																	197898178		2203	4300	6503	SO:0001583	missense	56956				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:197898178G>T	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.983G>T	1.37:g.197898178G>T	ENSP00000356357:p.Arg328Leu					LHX9_uc001gui.1_Missense_Mutation_p.R319L|LHX9_uc001guj.1_Intron	p.R328L	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN			5	1420	+			328					Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Missense_Mutation	SNP	ENST00000367387.4	37	c.983G>T	CCDS1393.1	.	.	.	.	.	.	.	.	.	.	G	32	5.169351	0.94768	.	.	ENSG00000143355	ENST00000367390;ENST00000367387	D;D	0.89875	-2.57;-2.58	5.84	5.84	0.93424	Homeodomain-related (1);Homeobox (1);	0.061290	0.64402	D	0.000002	D	0.92130	0.7505	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.978;0.998	D	0.92638	0.6122	10	0.87932	D	0	.	20.1294	0.97995	0.0:0.0:1.0:0.0	.	328;319	Q9NQ69;Q9NQ69-2	LHX9_HUMAN;.	L	319;328	ENSP00000356360:R319L;ENSP00000356357:R328L	ENSP00000356357:R328L	R	+	2	0	LHX9	196164801	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.455000	0.97625	2.758000	0.94735	0.591000	0.81541	CGG		PASS	0.512	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204		49	48	49	48	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216465515	216465515	+	Splice_Site	SNP	A	A	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:216465515A>T	ENST00000307340.3	-	10	2227		c.e10+1		USH2A_ENST00000366943.2_Splice_Site|USH2A_ENST00000366942.3_Splice_Site	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)						hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.?(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTTGCTACTTACCTGTAGTGT	0.383										HNSCC(13;0.011)																												uc001hku.1																			1	Unknown(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.e10+1		usherin isoform B							131.0	115.0	121.0					1																	216465515		2203	4300	6503	SO:0001630	splice_region_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216465515A>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1840+1T>A	1.37:g.216465515A>T		HNSCC(13;0.011)				USH2A_uc001hkv.2_Splice_Site_p.G614_splice	p.G614_splice	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	10	2227	-								Q5VVM9|Q6S362|Q9NS27	Splice_Site	SNP	ENST00000307340.3	37	c.1840_splice	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.084149	0.76642	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.291	0.66278	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USH2A	214532138	1.000000	0.71417	0.995000	0.50966	0.897000	0.52465	6.466000	0.73543	1.781000	0.52344	0.383000	0.25322	.		PASS	0.383	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	Intron	53	182	53	182	---	---	---	---
ESRRG	2104	broad.mit.edu	37	1	216850647	216850647	+	Silent	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:216850647C>A	ENST00000408911.3	-	2	396	c.243G>T	c.(241-243)tcG>tcT	p.S81S	ESRRG_ENST00000493748.1_Silent_p.S58S|ESRRG_ENST00000487276.1_Silent_p.S58S|ESRRG_ENST00000360012.3_Silent_p.S58S|ESRRG_ENST00000361395.2_Silent_p.S58S|ESRRG_ENST00000361525.3_Silent_p.S58S|ESRRG_ENST00000463665.1_Silent_p.S58S|ESRRG_ENST00000493603.1_Silent_p.S58S|ESRRG_ENST00000366938.2_Silent_p.S58S|ESRRG_ENST00000366937.1_Silent_p.S86S|ESRRG_ENST00000359162.2_Silent_p.S58S|ESRRG_ENST00000366940.2_Silent_p.S58S|ESRRG_ENST00000391890.3_Silent_p.S58S	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	81					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.S81S(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	AGAGAGGTGGCGAGTCAAGTC	0.562																																						uc001hkw.1																			1	Substitution - coding silent(1)	p.S81L(1)	lung(1)	ovary(1)|kidney(1)	2						c.(241-243)TCG>TCT		estrogen-related receptor gamma isoform 1	Diethylstilbestrol(DB00255)						171.0	149.0	157.0					1																	216850647		2203	4300	6503	SO:0001819	synonymous_variant	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216850647C>A	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.243G>T	1.37:g.216850647C>A						ESRRG_uc001hky.1_Silent_p.S58S|ESRRG_uc009xdp.1_Silent_p.S58S|ESRRG_uc001hkz.1_Silent_p.S58S|ESRRG_uc010puc.1_Silent_p.S58S|ESRRG_uc001hla.1_Silent_p.S58S|ESRRG_uc001hlb.1_Silent_p.S58S|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Silent_p.S58S|ESRRG_uc001hld.1_Silent_p.S58S|ESRRG_uc001hkx.1_Silent_p.S86S|ESRRG_uc009xdo.1_Silent_p.S58S|ESRRG_uc001hle.1_Silent_p.S58S	p.S81S	NM_001438	NP_001429	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	2	409	-			81					A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Silent	SNP	ENST00000408911.3	37	c.243G>T	CCDS41468.1																																																																																				PASS	0.562	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		66	105	66	105	---	---	---	---
TARBP1	6894	broad.mit.edu	37	1	234563324	234563324	+	Silent	SNP	T	T	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:234563324T>C	ENST00000040877.1	-	18	3248	c.3249A>G	c.(3247-3249)caA>caG	p.Q1083Q		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1083					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)	p.Q1083Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TCTTTTACCTTTGATCACGCC	0.338																																						uc001hwd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(3247-3249)CAA>CAG		TAR RNA binding protein 1							47.0	46.0	46.0					1																	234563324		2203	4300	6503	SO:0001819	synonymous_variant	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234563324T>C		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.3249A>G	1.37:g.234563324T>C							p.Q1083Q	NM_005646	NP_005637	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		18	3249	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	1083					Q9H581	Silent	SNP	ENST00000040877.1	37	c.3249A>G	CCDS1601.1																																																																																				PASS	0.338	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		13	54	13	54	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237617780	237617780	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:237617780G>T	ENST00000366574.2	+	15	1699	c.1382G>T	c.(1381-1383)gGc>gTc	p.G461V	RYR2_ENST00000542537.1_Missense_Mutation_p.G445V|RYR2_ENST00000360064.6_Missense_Mutation_p.G459V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	461					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.G459V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATCTCATTGGCTACTTCCAC	0.483																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(1381-1383)GGC>GTC		cardiac muscle ryanodine receptor							80.0	79.0	79.0					1																	237617780		1922	4127	6049	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237617780G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1382G>T	1.37:g.237617780G>T	ENSP00000355533:p.Gly461Val						p.G461V	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		15	1502	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	461			Cytoplasmic (By similarity).		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.1382G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	4.687	0.127738	0.08981	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.88431	-2.38;-2.38;-2.38	5.8	4.9	0.64082	Intracellular calcium-release channel (1);	0.000000	0.64402	U	0.000009	T	0.81187	0.4770	N	0.22421	0.69	0.80722	D	1	B	0.31459	0.324	B	0.30029	0.11	T	0.77247	-0.2658	10	0.20046	T	0.44	.	14.8556	0.70335	0.0687:0.0:0.9313:0.0	.	461	Q92736	RYR2_HUMAN	V	461;459;445	ENSP00000355533:G461V;ENSP00000353174:G459V;ENSP00000443798:G445V	ENSP00000353174:G459V	G	+	2	0	RYR2	235684403	1.000000	0.71417	0.944000	0.38274	0.029000	0.11900	4.615000	0.61190	1.469000	0.48083	-0.269000	0.10298	GGC		PASS	0.483	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		29	90	29	90	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237632428	237632428	+	Missense_Mutation	SNP	A	A	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:237632428A>C	ENST00000366574.2	+	17	1966	c.1649A>C	c.(1648-1650)cAa>cCa	p.Q550P	RYR2_ENST00000542537.1_Missense_Mutation_p.Q534P|MIR4428_ENST00000584884.1_RNA|RYR2_ENST00000360064.6_Missense_Mutation_p.Q548P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	550					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.Q548P(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AACTGTGCTCAATTTTCTGGC	0.383																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(1648-1650)CAA>CCA		cardiac muscle ryanodine receptor							123.0	121.0	122.0					1																	237632428		1816	4085	5901	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237632428A>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1649A>C	1.37:g.237632428A>C	ENSP00000355533:p.Gln550Pro						p.Q550P	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		17	1769	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	550			Cytoplasmic (By similarity).		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.1649A>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	18.62	3.663759	0.67700	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.89123	-2.47;-2.47;-2.47	4.94	4.94	0.65067	Intracellular calcium-release channel (1);	0.000000	0.56097	U	0.000028	D	0.91136	0.7209	L	0.60455	1.87	0.80722	D	1	D	0.59357	0.985	P	0.57620	0.824	D	0.91781	0.5435	10	0.72032	D	0.01	.	12.1223	0.53897	1.0:0.0:0.0:0.0	.	550	Q92736	RYR2_HUMAN	P	550;548;534	ENSP00000355533:Q550P;ENSP00000353174:Q548P;ENSP00000443798:Q534P	ENSP00000353174:Q548P	Q	+	2	0	RYR2	235699051	1.000000	0.71417	0.954000	0.39281	0.802000	0.45316	6.510000	0.73729	1.853000	0.53794	0.460000	0.39030	CAA		PASS	0.383	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		33	90	33	90	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237753131	237753131	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:237753131G>T	ENST00000366574.2	+	30	3954	c.3637G>T	c.(3637-3639)Ggt>Tgt	p.G1213C	RYR2_ENST00000542537.1_Missense_Mutation_p.G1197C|RYR2_ENST00000360064.6_Missense_Mutation_p.G1211C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1213	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.G1211C(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGCTCAAGTGGGTAGGATGAA	0.393																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(3637-3639)GGT>TGT		cardiac muscle ryanodine receptor							94.0	89.0	90.0					1																	237753131		1897	4128	6025	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237753131G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3637G>T	1.37:g.237753131G>T	ENSP00000355533:p.Gly1213Cys						p.G1213C	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		30	3757	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1213			Cytoplasmic (By similarity).|4 X approximate repeats.|B30.2/SPRY 2.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3637G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	g	26.7	4.760935	0.89932	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.68765	-0.35;-0.35;-0.35	5.49	5.49	0.81192	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000007	T	0.71108	0.3301	L	0.28694	0.88	0.80722	D	1	D	0.56287	0.975	P	0.56823	0.807	T	0.74009	-0.3802	10	0.66056	D	0.02	.	19.3668	0.94466	0.0:0.0:1.0:0.0	.	1213	Q92736	RYR2_HUMAN	C	1213;1211;1197	ENSP00000355533:G1213C;ENSP00000353174:G1211C;ENSP00000443798:G1197C	ENSP00000353174:G1211C	G	+	1	0	RYR2	235819754	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.804000	0.99143	2.564000	0.86499	0.650000	0.86243	GGT		PASS	0.393	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		15	54	15	54	---	---	---	---
CHRM3	1131	broad.mit.edu	37	1	240071955	240071955	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:240071955G>T	ENST00000255380.4	+	5	1983	c.1204G>T	c.(1204-1206)Gag>Tag	p.E402*		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	402					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)	p.E402*(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GGTGGACTTGGAGAGGAAAGC	0.572																																						uc001hyp.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|skin(1)	5						c.(1204-1206)GAG>TAG		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						43.0	37.0	39.0					1																	240071955		2203	4300	6503	SO:0001587	stop_gained	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240071955G>T	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1204G>T	1.37:g.240071955G>T	ENSP00000255380:p.Glu402*						p.E402*	NM_000740	NP_000731	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	1983	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	402			Cytoplasmic (By similarity).		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Nonsense_Mutation	SNP	ENST00000255380.4	37	c.1204G>T	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	G	41	8.821202	0.98966	.	.	ENSG00000133019	ENST00000255380	.	.	.	5.97	5.97	0.96955	.	0.629061	0.15253	N	0.272202	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-17.295	13.6013	0.62020	0.0706:0.0:0.9294:0.0	.	.	.	.	X	402	.	ENSP00000255380:E402X	E	+	1	0	CHRM3	238138578	0.999000	0.42202	0.654000	0.29608	0.447000	0.32167	2.609000	0.46317	2.828000	0.97474	0.655000	0.94253	GAG		PASS	0.572	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		11	23	11	23	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240256749	240256749	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:240256749C>A	ENST00000319653.9	+	1	1570	c.1340C>A	c.(1339-1341)cCg>cAg	p.P447Q		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	447					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.P590Q(2)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AAGAGGCGGCCGGAACCCTCC	0.687																																						uc010pyd.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(1339-1341)CCG>CAG		formin 2							42.0	49.0	46.0					1																	240256749		2196	4292	6488	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240256749C>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1340C>A	1.37:g.240256749C>A	ENSP00000318884:p.Pro447Gln					FMN2_uc010pye.1_Missense_Mutation_p.P447Q	p.P447Q	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	1565	+	Ovarian(103;0.127)	all_cancers(173;0.013)	447					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.1340C>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	7.374	0.627476	0.14257	.	.	ENSG00000155816	ENST00000319653	T	0.76839	-1.05	4.51	-1.79	0.07932	.	0.599272	0.14174	N	0.336490	T	0.47911	0.1471	N	0.08118	0	0.24069	N	0.995986	B	0.16603	0.018	B	0.09377	0.004	T	0.28202	-1.0051	10	0.15952	T	0.53	.	2.678	0.05085	0.2028:0.4328:0.1129:0.2515	.	447	Q9NZ56	FMN2_HUMAN	Q	447	ENSP00000318884:P447Q	ENSP00000318884:P447Q	P	+	2	0	FMN2	238323372	0.000000	0.05858	0.903000	0.35520	0.635000	0.38103	-0.170000	0.09897	-0.561000	0.06094	-0.251000	0.11542	CCG		PASS	0.687	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		38	65	38	65	---	---	---	---
RGS7	6000	broad.mit.edu	37	1	241099906	241099906	+	Silent	SNP	C	C	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:241099906C>G	ENST00000407727.1	-	4	326	c.327G>C	c.(325-327)cgG>cgC	p.R109R	RGS7_ENST00000331110.7_Silent_p.R83R|RGS7_ENST00000366565.1_Silent_p.R109R|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000366563.1_Silent_p.R109R|RGS7_ENST00000446183.2_Silent_p.R25R|RGS7_ENST00000366564.1_Silent_p.R109R|RGS7_ENST00000366562.4_Silent_p.R109R			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	109	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.R109R(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTACTTGAAACCGGTAAAAGG	0.393																																						uc001hyv.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)|kidney(1)	7						c.(325-327)CGG>CGC		regulator of G-protein signaling 7							74.0	82.0	79.0					1																	241099906		2203	4300	6503	SO:0001819	synonymous_variant	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:241099906C>G	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.327G>C	1.37:g.241099906C>G						RGS7_uc010pyh.1_Silent_p.R83R|RGS7_uc010pyj.1_Silent_p.R25R|RGS7_uc001hyu.2_Silent_p.R109R|RGS7_uc009xgn.1_Intron|RGS7_uc001hyw.2_Silent_p.R109R	p.R109R	NM_002924	NP_002915	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		5	657	-		all_cancers(173;0.0131)	109			DEP.		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Silent	SNP	ENST00000407727.1	37	c.327G>C																																																																																					PASS	0.393	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		20	129	20	129	---	---	---	---
NLRP3	114548	broad.mit.edu	37	1	247582221	247582221	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:247582221C>A	ENST00000336119.3	+	1	871	c.125C>A	c.(124-126)cCg>cAg	p.P42Q	NLRP3_ENST00000391828.3_Missense_Mutation_p.P42Q|NLRP3_ENST00000366496.2_Missense_Mutation_p.P42Q|NLRP3_ENST00000366497.2_Missense_Mutation_p.P42Q|NLRP3_ENST00000391827.2_Missense_Mutation_p.P42Q|NLRP3_ENST00000348069.2_Missense_Mutation_p.P42Q|NLRP3_ENST00000474792.1_3'UTR	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	42	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.P42Q(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ATCCCCCTCCCGAGGGGTCAG	0.557																																						uc001icr.2																			1	Substitution - Missense(1)		lung(1)	lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(124-126)CCG>CAG		NLR family, pyrin domain containing 3 isoform a							52.0	46.0	48.0					1																	247582221		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247582221C>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.125C>A	1.37:g.247582221C>A	ENSP00000337383:p.Pro42Gln					NLRP3_uc001ics.2_Missense_Mutation_p.P42Q|NLRP3_uc001icu.2_Missense_Mutation_p.P42Q|NLRP3_uc001icw.2_Missense_Mutation_p.P42Q|NLRP3_uc001icv.2_Missense_Mutation_p.P42Q|NLRP3_uc010pyw.1_Missense_Mutation_p.P40Q|NLRP3_uc001ict.1_Missense_Mutation_p.P40Q	p.P42Q	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		3	263	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	42			DAPIN.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.125C>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041083	0.55003	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	4.49	4.49	0.54785	Pyrin (2);DEATH-like (2);	0.000000	0.50627	D	0.000106	T	0.79902	0.4526	M	0.84683	2.71	0.40675	D	0.982259	D;P;D;D;D	0.89917	0.999;0.686;1.0;1.0;1.0	D;B;D;D;D	0.97110	0.98;0.438;1.0;1.0;0.998	D	0.83552	0.0102	10	0.87932	D	0	.	12.8787	0.58003	0.0:1.0:0.0:0.0	.	42;42;42;42;42	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	Q	42	ENSP00000375704:P42Q;ENSP00000355453:P42Q;ENSP00000337383:P42Q;ENSP00000294752:P42Q;ENSP00000355452:P42Q;ENSP00000375703:P42Q	ENSP00000337383:P42Q	P	+	2	0	NLRP3	245648844	0.022000	0.18835	0.255000	0.24374	0.474000	0.32979	1.533000	0.36040	2.498000	0.84270	0.561000	0.74099	CCG		PASS	0.557	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		28	29	28	29	---	---	---	---
OR2W5	441932	broad.mit.edu	37	1	247655125	247655125	+	RNA	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:247655125C>A	ENST00000522351.1	+	0	756							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S232R(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AAGTCAGCAGCAGGGCGAAAG	0.582																																						uc001icz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(694-696)AGC>AGA		olfactory receptor, family 2, subfamily W,							131.0	121.0	124.0					1																	247655125		2203	4300	6503			441932				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247655125C>A			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247655125C>A							p.S232R	NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	696	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	232					B9EH85	Missense_Mutation	SNP	ENST00000522351.1	37	c.696C>A																																																																																					PASS	0.582	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		99	148	99	148	---	---	---	---
OR6F1	343169	broad.mit.edu	37	1	247875325	247875325	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:247875325G>T	ENST00000302084.2	-	1	780	c.733C>A	c.(733-735)Ctc>Atc	p.L245I	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L245I(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ACCACGGTGAGATGCGAGGAG	0.532																																						uc001idj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(733-735)CTC>ATC		olfactory receptor, family 6, subfamily F,							114.0	103.0	107.0					1																	247875325		2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875325G>T	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.733C>A	1.37:g.247875325G>T	ENSP00000305640:p.Leu245Ile						p.L245I	NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	733	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		245			Helical; Name=6; (Potential).		B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.733C>A	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	G	9.728	1.161541	0.21538	.	.	ENSG00000169214	ENST00000302084	T	0.43294	0.95	3.72	1.79	0.24919	GPCR, rhodopsin-like superfamily (1);	0.197515	0.25068	N	0.033395	T	0.49847	0.1581	L	0.43646	1.37	0.09310	N	0.999999	D	0.76494	0.999	D	0.87578	0.998	T	0.28554	-1.0040	10	0.51188	T	0.08	-28.1405	7.0577	0.25109	0.0953:0.0:0.7341:0.1706	.	245	Q8NGZ6	OR6F1_HUMAN	I	245	ENSP00000305640:L245I	ENSP00000305640:L245I	L	-	1	0	OR6F1	245941948	0.151000	0.22747	0.002000	0.10522	0.014000	0.08584	0.303000	0.19210	0.340000	0.23745	0.591000	0.81541	CTC		PASS	0.532	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		92	105	92	105	---	---	---	---
OR2AK2	391191	broad.mit.edu	37	1	248129572	248129572	+	Silent	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:248129572G>T	ENST00000366480.3	+	1	1038	c.939G>T	c.(937-939)acG>acT	p.T313T	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	313						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T313T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			AGGAAGTGACGGGGGCAGTGA	0.433																																					Melanoma(45;390 1181 23848 28461 41504)	uc010pzd.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(937-939)ACG>ACT		olfactory receptor, family 2, subfamily AK,							102.0	97.0	99.0					1																	248129572		2203	4300	6503	SO:0001819	synonymous_variant	391191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248129572G>T	BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"""GPCR / Class A : Olfactory receptors"""	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.939G>T	1.37:g.248129572G>T						OR2L13_uc001ids.2_Intron	p.T313T	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	939	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		313			Cytoplasmic (Potential).		B2RND1|Q6IF05	Silent	SNP	ENST00000366480.3	37	c.939G>T	CCDS31102.1																																																																																				PASS	0.433	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491		53	90	53	90	---	---	---	---
OR2L2	26246	broad.mit.edu	37	1	248202388	248202388	+	Silent	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:248202388G>T	ENST00000366479.2	+	1	915	c.819G>T	c.(817-819)ctG>ctT	p.L273L	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L273L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ACAAGATTCTGGCTGTTTTCT	0.493																																						uc001idw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(817-819)CTG>CTT		olfactory receptor, family 2, subfamily L,							119.0	109.0	112.0					1																	248202388		2203	4300	6503	SO:0001819	synonymous_variant	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248202388G>T	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.819G>T	1.37:g.248202388G>T						OR2L13_uc001ids.2_Intron	p.L273L	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	915	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		273			Helical; Name=7; (Potential).		Q2M3T5	Silent	SNP	ENST00000366479.2	37	c.819G>T	CCDS31103.1																																																																																				PASS	0.493	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		78	99	78	99	---	---	---	---
OR2T4	127074	broad.mit.edu	37	1	248525408	248525408	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:248525408C>A	ENST00000366475.1	+	1	526	c.526C>A	c.(526-528)Ctg>Atg	p.L176M		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L176M(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTGTCTCTTCCTGTCATCAGG	0.532																																						uc001ieh.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(526-528)CTG>ATG		olfactory receptor, family 2, subfamily T,							270.0	235.0	247.0					1																	248525408		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525408C>A	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.526C>A	1.37:g.248525408C>A	ENSP00000355431:p.Leu176Met						p.L176M	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	526	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		176			Helical; Name=4; (Potential).		Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.526C>A	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.222644	0.00283	.	.	ENSG00000196944	ENST00000366475	T	0.40476	1.03	3.15	2.22	0.28083	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37178	N	0.002213	T	0.26268	0.0641	N	0.24115	0.695	0.09310	N	1	P	0.46987	0.888	P	0.48952	0.596	T	0.24941	-1.0146	10	0.02654	T	1	.	4.3562	0.11179	0.2182:0.6536:0.0:0.1282	.	176	Q8NH00	OR2T4_HUMAN	M	176	ENSP00000355431:L176M	ENSP00000355431:L176M	L	+	1	2	OR2T4	246592031	0.003000	0.15002	0.008000	0.14137	0.009000	0.06853	-0.147000	0.10234	0.427000	0.26145	0.485000	0.47835	CTG		PASS	0.532	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		85	294	85	294	---	---	---	---
OR2T4	127074	broad.mit.edu	37	1	248525824	248525824	+	Silent	SNP	T	T	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:248525824T>A	ENST00000366475.1	+	1	942	c.942T>A	c.(940-942)acT>acA	p.T314T		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	314						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T314T(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCATCCTCACTCCAGTGGTGA	0.468																																						uc001ieh.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(940-942)ACT>ACA		olfactory receptor, family 2, subfamily T,							147.0	144.0	145.0					1																	248525824		2203	4300	6503	SO:0001819	synonymous_variant	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525824T>A	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.942T>A	1.37:g.248525824T>A							p.T314T	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	942	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		314			Helical; Name=7; (Potential).		Q6IEZ8	Silent	SNP	ENST00000366475.1	37	c.942T>A	CCDS31113.1																																																																																				PASS	0.468	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		75	230	75	230	---	---	---	---
OR2T34	127068	broad.mit.edu	37	1	248737519	248737519	+	Silent	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr1:248737519C>A	ENST00000328782.2	-	1	561	c.540G>T	c.(538-540)ctG>ctT	p.L180L		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L180L(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGAAAAAACTCAGGATTTTCC	0.512																																						uc001iep.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(538-540)CTG>CTT		olfactory receptor, family 2, subfamily T,							59.0	74.0	69.0					1																	248737519		2156	4297	6453	SO:0001819	synonymous_variant	127068				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248737519C>A	BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.540G>T	1.37:g.248737519C>A							p.L180L	NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	540	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		180			Extracellular (Potential).		B2RNJ8|Q6IEY5|Q96R31	Silent	SNP	ENST00000328782.2	37	c.540G>T	CCDS31120.1																																																																																				PASS	0.512	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821		31	160	31	160	---	---	---	---
GREB1	9687	broad.mit.edu	37	2	11767094	11767094	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr2:11767094G>A	ENST00000381486.2	+	25	4613	c.4313G>A	c.(4312-4314)gGg>gAg	p.G1438E	GREB1_ENST00000234142.5_Missense_Mutation_p.G1438E|GREB1_ENST00000396123.1_Missense_Mutation_p.G436E	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1438						integral component of membrane (GO:0016021)		p.G1438E(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GCAGACAGAGGGATGTCCCGG	0.517																																					Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(4312-4314)GGG>GAG		growth regulation by estrogen in breast cancer 1							64.0	69.0	67.0					2																	11767094		2020	4172	6192	SO:0001583	missense	9687					integral to membrane		g.chr2:11767094G>A		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.4313G>A	2.37:g.11767094G>A	ENSP00000370896:p.Gly1438Glu					GREB1_uc002rbp.1_Missense_Mutation_p.G436E	p.G1438E	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	25	4613	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1438					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.4313G>A	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	6.051	0.377718	0.11466	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.20598	3.37;3.37;2.06	5.58	1.55	0.23275	.	0.505987	0.22475	N	0.059573	T	0.13586	0.0329	L	0.34521	1.04	0.09310	N	0.999998	B	0.06786	0.001	B	0.09377	0.004	T	0.32561	-0.9902	10	0.13470	T	0.59	-32.2424	10.6828	0.45823	0.0866:0.6027:0.3107:0.0	.	1438	Q4ZG55	GREB1_HUMAN	E	1438;1438;436	ENSP00000370896:G1438E;ENSP00000234142:G1438E;ENSP00000379429:G436E	ENSP00000234142:G1438E	G	+	2	0	GREB1	11684545	0.028000	0.19301	0.086000	0.20670	0.484000	0.33280	0.326000	0.19646	0.289000	0.22422	0.655000	0.94253	GGG		PASS	0.517	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		24	54	24	54	---	---	---	---
LPIN1	23175	broad.mit.edu	37	2	11927241	11927241	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr2:11927241G>A	ENST00000256720.2	+	10	1576	c.1483G>A	c.(1483-1485)Gac>Aac	p.D495N	LPIN1_ENST00000396097.1_Missense_Mutation_p.D225N|LPIN1_ENST00000425416.2_Missense_Mutation_p.D501N|LPIN1_ENST00000404113.2_5'UTR|LPIN1_ENST00000449576.2_Missense_Mutation_p.D580N|LPIN1_ENST00000396099.1_Missense_Mutation_p.D537N	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	495					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.D495N(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		ACAGTTTGTGGACAACCCCGC	0.408																																						uc010yjn.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(1483-1485)GAC>AAC		lipin 1							157.0	132.0	141.0					2																	11927241		2203	4300	6503	SO:0001583	missense	23175				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	g.chr2:11927241G>A	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.1483G>A	2.37:g.11927241G>A	ENSP00000256720:p.Asp495Asn					LPIN1_uc010yjm.1_Missense_Mutation_p.D580N|LPIN1_uc002rbt.2_Missense_Mutation_p.D495N|LPIN1_uc010yjo.1_5'UTR	p.D495N	NM_145693	NP_663731	Q14693	LPIN1_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	11	1757	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		495					A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	c.1483G>A	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465970	0.84425	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097	T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48	5.57	5.57	0.84162	.	0.046228	0.85682	D	0.000000	T	0.76564	0.4005	L	0.32530	0.975	0.80722	D	1	D;B	0.65815	0.995;0.066	D;B	0.66979	0.948;0.028	T	0.71062	-0.4701	10	0.21014	T	0.42	-39.1835	19.5527	0.95328	0.0:0.0:1.0:0.0	.	580;495	F5GY24;Q14693	.;LPIN1_HUMAN	N	580;537;501;495;225	ENSP00000397908:D580N;ENSP00000379406:D537N;ENSP00000401522:D501N;ENSP00000256720:D495N;ENSP00000379404:D225N	ENSP00000256720:D495N	D	+	1	0	LPIN1	11844692	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.768000	0.85345	2.630000	0.89119	0.655000	0.94253	GAC		PASS	0.408	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		47	108	47	108	---	---	---	---
PREB	10113	broad.mit.edu	37	2	27355472	27355472	+	Splice_Site	SNP	T	T	G	rs142871408		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr2:27355472T>G	ENST00000260643.2	-	5	1004	c.751A>C	c.(751-753)Agg>Cgg	p.R251R	PREB_ENST00000406567.3_Splice_Site_p.S251R|PREB_ENST00000416802.1_5'Flank	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	251					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R251R(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTCACACCTGCAGGCCTGG	0.567																																						uc002rix.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(751-753)AGG>CGG		prolactin regulatory element binding protein							70.0	67.0	68.0					2																	27355472		2203	4300	6503	SO:0001630	splice_region_variant	10113				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding	g.chr2:27355472T>G		CCDS1738.1	2p23	2013-01-10			ENSG00000138073	ENSG00000138073		"""WD repeat domain containing"""	9356	protein-coding gene	gene with protein product		606395				10194769, 12735795	Standard	NM_013388		Approved	SEC12	uc002rix.1	Q9HCU5	OTTHUMG00000097076	ENST00000260643.2:c.752+1A>C	2.37:g.27355472T>G						PREB_uc002riy.1_Silent_p.R179R|PREB_uc002riz.1_RNA|PREB_uc002rja.1_Missense_Mutation_p.S251R	p.R251R	NM_013388	NP_037520	Q9HCU5	PREB_HUMAN			5	1004	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		251			Cytoplasmic (Potential).		Q53SZ8|Q9UH94	Silent	SNP	ENST00000260643.2	37	c.751A>C	CCDS1738.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.604|9.604	1.129406|1.129406	0.21041|0.21041	.|.	.|.	ENSG00000138073|ENSG00000138073	ENST00000430533|ENST00000406567	.|T	.|0.01838	.|4.61	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	.|.	.|.	.|.	.|.	T|T	0.10981|0.10981	0.0268|0.0268	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.83275	.|0.996	T|T	0.00931|0.00931	-1.1510|-1.1510	4|7	.|.	.|.	.|.	-19.4281|-19.4281	12.4684|12.4684	0.55773|0.55773	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|251	.|B5MC98	.|.	P|R	6|251	.|ENSP00000384032:S251R	.|.	Q|S	-|-	2|1	0|0	PREB|PREB	27208976|27208976	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.738000|0.738000	0.42128|0.42128	2.509000|2.509000	0.45459|0.45459	2.202000|2.202000	0.70862|0.70862	0.533000|0.533000	0.62120|0.62120	CAG|AGT		PASS	0.567	PREB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214195.1	NM_013388	Silent	8	51	8	51	---	---	---	---
UCN	7349	broad.mit.edu	37	2	27530406	27530406	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr2:27530406C>A	ENST00000296099.2	-	2	656	c.358G>T	c.(358-360)Gac>Tac	p.D120Y		NM_003353.2	NP_003344.1	P55089	UCN1_HUMAN	urocortin	120					activation of protein kinase A activity (GO:0034199)|aerobic respiration (GO:0009060)|associative learning (GO:0008306)|drinking behavior (GO:0042756)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|inflammatory response (GO:0006954)|negative regulation of apoptotic process (GO:0043066)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell size (GO:0045792)|negative regulation of feeding behavior (GO:2000252)|negative regulation of gastric acid secretion (GO:0060455)|negative regulation of gene expression (GO:0010629)|negative regulation of hormone secretion (GO:0046888)|negative regulation of necrotic cell death (GO:0060547)|negative regulation of neuron death (GO:1901215)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|pancreatic juice secretion (GO:0030157)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell growth (GO:0030307)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of corticotropin secretion (GO:0051461)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of translation (GO:0045727)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasodilation (GO:0045909)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|response to pain (GO:0048265)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|perikaryon (GO:0043204)|varicosity (GO:0043196)	histone deacetylase inhibitor activity (GO:0046811)|neuropeptide hormone activity (GO:0005184)	p.D120Y(1)		lung(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCACCGAGTCGAATATGATG	0.647																																						uc002rjp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(358-360)GAC>TAC		urocortin preproprotein							29.0	33.0	32.0					2																	27530406		2176	4291	6467	SO:0001583	missense	7349					extracellular region	neuropeptide hormone activity	g.chr2:27530406C>A	AF038633	CCDS1747.1	2p23-p21	2013-02-28			ENSG00000163794	ENSG00000163794		"""Endogenous ligands"""	12516	protein-coding gene	gene with protein product	"""prepro-urocortin"""	600945				9628819, 861256	Standard	NM_003353		Approved	UROC, UI	uc002rjp.1	P55089	OTTHUMG00000097068	ENST00000296099.2:c.358G>T	2.37:g.27530406C>A	ENSP00000296099:p.Asp120Tyr						p.D120Y	NM_003353	NP_003344	P55089	UCN1_HUMAN			2	474	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		120					Q6FG64	Missense_Mutation	SNP	ENST00000296099.2	37	c.358G>T	CCDS1747.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447752	0.63178	.	.	ENSG00000163794	ENST00000296099	.	.	.	5.11	4.17	0.49024	Corticotropin-releasing factor, CRF (2);	0.065963	0.64402	D	0.000019	T	0.66963	0.2843	L	0.49126	1.545	0.58432	D	0.999995	D	0.76494	0.999	D	0.67725	0.953	T	0.69060	-0.5245	9	0.87932	D	0	-13.1176	11.0427	0.47840	0.0:0.812:0.188:0.0	.	120	P55089	UCN1_HUMAN	Y	120	.	ENSP00000296099:D120Y	D	-	1	0	UCN	27383910	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.063000	0.41423	2.538000	0.85594	0.561000	0.74099	GAC		PASS	0.647	UCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214184.2	NM_003353		13	46	13	46	---	---	---	---
STRN	6801	broad.mit.edu	37	2	37121150	37121150	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr2:37121150G>C	ENST00000263918.4	-	7	830	c.822C>G	c.(820-822)gaC>gaG	p.D274E	STRN_ENST00000379213.2_Missense_Mutation_p.D262E	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	274					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)	p.D274E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				CTTCACCGCTGTCAGGCAATG	0.353																																						uc002rpn.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(820-822)GAC>GAG		striatin, calmodulin binding protein							133.0	117.0	122.0					2																	37121150		2203	4300	6503	SO:0001583	missense	6801				dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	g.chr2:37121150G>C	AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"""WD repeat domain containing"""	11424	protein-coding gene	gene with protein product		614765	"""striatin, calmodulin-binding protein"""			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.822C>G	2.37:g.37121150G>C	ENSP00000263918:p.Asp274Glu					STRN_uc010ezx.2_Missense_Mutation_p.D274E	p.D274E	NM_003162	NP_003153	O43815	STRN_HUMAN			7	831	-		Ovarian(717;0.0129)|all_hematologic(82;0.21)	274					Q3KP65|Q53TQ8|Q9NP38	Missense_Mutation	SNP	ENST00000263918.4	37	c.822C>G	CCDS1784.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.960520	0.34565	.	.	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	T;T	0.65916	-0.18;-0.14	5.72	2.08	0.27032	.	0.133462	0.64402	D	0.000002	T	0.43366	0.1244	L	0.37697	1.125	0.45528	D	0.998484	B;B	0.22276	0.067;0.034	B;B	0.26614	0.071;0.029	T	0.14364	-1.0475	10	0.25106	T	0.35	-11.8671	1.2534	0.01987	0.4476:0.1435:0.2698:0.1391	.	262;274	O43815-2;O43815	.;STRN_HUMAN	E	274;249;262	ENSP00000263918:D274E;ENSP00000368513:D262E	ENSP00000263918:D274E	D	-	3	2	STRN	36974654	0.989000	0.36119	0.998000	0.56505	0.881000	0.50899	0.299000	0.19138	0.104000	0.17725	-0.302000	0.09304	GAC		PASS	0.353	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1			30	143	30	143	---	---	---	---
SIX3	6496	broad.mit.edu	37	2	45169617	45169617	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr2:45169617T>C	ENST00000260653.3	+	1	716	c.374T>C	c.(373-375)aTc>aCc	p.I125T	SIX3-AS1_ENST00000419364.1_RNA|SIX3-AS1_ENST00000456467.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	125					brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|transcription corepressor binding (GO:0001222)	p.I125T(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGCGAGGCCATCAACAAACAC	0.672																																						uc002run.1																			1	Substitution - Missense(1)		lung(1)		0						c.(373-375)ATC>ACC		SIX homeobox 3							12.0	15.0	14.0					2																	45169617		2055	4107	6162	SO:0001583	missense	6496				visual perception	nucleus		g.chr2:45169617T>C	AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"""Homeoboxes / SINE class"""	10889	protein-coding gene	gene with protein product		603714	"""holoprosencephaly 2, alobar or semilobar"", ""sine oculis homeobox homolog 3 (Drosophila)"""	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	ENST00000260653.3:c.374T>C	2.37:g.45169617T>C	ENSP00000260653:p.Ile125Thr						p.I125T	NM_005413	NP_005404	O95343	SIX3_HUMAN			1	581	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	125					D6W5A5|Q53T42	Missense_Mutation	SNP	ENST00000260653.3	37	c.374T>C	CCDS1821.1	.	.	.	.	.	.	.	.	.	.	T	11.06	1.526609	0.27299	.	.	ENSG00000138083	ENST00000260653	D	0.97066	-4.23	3.03	3.03	0.35002	.	0.000000	0.64402	U	0.000001	D	0.94663	0.8279	M	0.61703	1.905	0.58432	D	0.999998	B	0.29612	0.251	B	0.20384	0.029	D	0.93587	0.6918	10	0.72032	D	0.01	.	10.9801	0.47488	0.0:0.0:0.0:1.0	.	125	O95343	SIX3_HUMAN	T	125	ENSP00000260653:I125T	ENSP00000260653:I125T	I	+	2	0	SIX3	45023121	1.000000	0.71417	1.000000	0.80357	0.295000	0.27426	7.562000	0.82300	1.236000	0.43740	0.397000	0.26171	ATC		PASS	0.672	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326192.1	NM_005413		8	15	8	15	---	---	---	---
GTF2A1L	11036	broad.mit.edu	37	2	48873622	48873622	+	Missense_Mutation	SNP	T	T	C	rs376016884		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr2:48873622T>C	ENST00000403751.3	+	6	456	c.419T>C	c.(418-420)aTg>aCg	p.M140T	LHCGR_ENST00000420913.3_5'UTR|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.M106T|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.M844T|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.M844T|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.M844T|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.M797T|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.M844T|GTF2A1L_ENST00000468326.1_3'UTR	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	140					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.M844T(1)		lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTACCAATTATGGTGACAGAG	0.353																																						uc010yol.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(2389-2391)ATG>ACG		stonin 1		T	THR/MET,THR/MET,THR/MET,THR/MET,THR/MET	0,4406		0,0,2203	76.0	76.0	76.0		317,2531,2390,419,2531	4.6	0.9	2		76	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	GTF2A1L,STON1-GTF2A1L	NM_001193487.1,NM_001198593.1,NM_001198594.1,NM_006872.3,NM_172311.2	81,81,81,81,81	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	106/445,844/1159,797/1136,140/479,844/1183	48873622	1,13005	2203	4300	6503	SO:0001583	missense	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48873622T>C	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.419T>C	2.37:g.48873622T>C	ENSP00000384597:p.Met140Thr					STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.M844T|GTF2A1L_uc002rws.1_Missense_Mutation_p.M140T|GTF2A1L_uc010yom.1_Missense_Mutation_p.M106T|GTF2A1L_uc002rwt.2_Missense_Mutation_p.M140T	p.M797T	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		5	2437	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	797					B4DY14|Q53FD9|Q5D050	Missense_Mutation	SNP	ENST00000403751.3	37	c.2390T>C	CCDS46281.1	.	.	.	.	.	.	.	.	.	.	T	14.69	2.609463	0.46527	0.0	1.16E-4	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751;ENST00000394749;ENST00000448460;ENST00000437125;ENST00000430487;ENST00000403751	T;T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.72	4.57	0.56435	.	0.424017	0.25671	N	0.029076	T	0.41026	0.1141	M	0.74258	2.255	0.80722	D	1	P;B;P;B;B	0.39782	0.688;0.094;0.611;0.285;0.134	B;B;B;B;B	0.35114	0.115;0.026;0.196;0.138;0.067	T	0.40776	-0.9545	10	0.72032	D	0.01	.	9.3202	0.37959	0.0:0.0822:0.0:0.9178	.	106;797;844;140;844	Q9UNN4-2;A8MXJ1;B5MCF5;Q9UNN4;Q53S48	.;.;.;TF2AY_HUMAN;.	T	844;844;844;844;797;139;106;149;106;140	ENSP00000385499:M844T;ENSP00000385701:M844T;ENSP00000378236:M844T;ENSP00000311493:M844T;ENSP00000378234:M797T;ENSP00000412645:M106T;ENSP00000396702:M149T;ENSP00000387896:M106T;ENSP00000384597:M140T	ENSP00000384597:M140T	M	+	2	0	STON1-GTF2A1L;GTF2A1L	48727126	0.999000	0.42202	0.928000	0.36995	0.978000	0.69477	3.515000	0.53429	0.995000	0.38917	0.482000	0.46254	ATG		PASS	0.353	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872		27	90	27	90	---	---	---	---
WDPCP	51057	broad.mit.edu	37	2	63631375	63631375	+	Silent	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr2:63631375G>A	ENST00000272321.7	-	10	1770	c.1243C>T	c.(1243-1245)Ctg>Ttg	p.L415L	WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409120.1_Silent_p.L223L|WDPCP_ENST00000398544.3_Silent_p.L256L|WDPCP_ENST00000409562.3_Silent_p.L415L|WDPCP_ENST00000409199.1_Silent_p.L223L	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	415					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.L415L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						TCAGCCAACAGTTGGATGTTA	0.453																																						uc002sch.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1243-1245)CTG>TTG		hypothetical protein LOC51057 isoform 2							94.0	91.0	92.0					2																	63631375		1908	4122	6030	SO:0001819	synonymous_variant	51057				cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		g.chr2:63631375G>A		CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.1243C>T	2.37:g.63631375G>A						C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Silent_p.L256L|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Silent_p.L223L|C2orf86_uc002sci.1_Silent_p.L391L|C2orf86_uc010fcr.1_Silent_p.L305L	p.L415L	NM_015910	NP_056994	O95876	FRITZ_HUMAN			10	1689	-			415					Q53RW4|Q7Z2Z3	Silent	SNP	ENST00000272321.7	37	c.1243C>T	CCDS42688.1																																																																																				PASS	0.453	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		18	99	18	99	---	---	---	---
TACR1	6869	broad.mit.edu	37	2	75276594	75276594	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr2:75276594C>A	ENST00000305249.5	-	5	1954	c.1189G>T	c.(1189-1191)Gag>Tag	p.E397*		NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	397					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)	p.E397*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	CTGAAGCTCTCTGTCATGGTC	0.607																																					Pancreas(64;62 1268 3653 14826 43765)	uc002sng.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1189-1191)GAG>TAG		tachykinin receptor 1 isoform long	Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)						109.0	105.0	106.0					2																	75276594		2203	4300	6503	SO:0001587	stop_gained	6869				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding	g.chr2:75276594C>A	M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"""GPCR / Class A : Tachykinin receptors"""	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.1189G>T	2.37:g.75276594C>A	ENSP00000303522:p.Glu397*						p.E397*	NM_001058	NP_001049	P25103	NK1R_HUMAN			5	1774	-			397			Cytoplasmic (Potential).		A8K150	Nonsense_Mutation	SNP	ENST00000305249.5	37	c.1189G>T	CCDS1958.1	.	.	.	.	.	.	.	.	.	.	C	42	9.823210	0.99272	.	.	ENSG00000115353	ENST00000305249	.	.	.	4.77	4.77	0.60923	.	0.312194	0.36134	N	0.002777	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	15.3387	0.74280	0.0:1.0:0.0:0.0	.	.	.	.	X	397	.	ENSP00000303522:E397X	E	-	1	0	TACR1	75130102	1.000000	0.71417	0.989000	0.46669	0.774000	0.43823	5.400000	0.66320	2.481000	0.83766	0.462000	0.41574	GAG		PASS	0.607	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3	NM_001058		10	82	10	82	---	---	---	---
REG3A	5068	broad.mit.edu	37	2	79385494	79385494	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr2:79385494G>C	ENST00000409839.3	-	4	327	c.291C>G	c.(289-291)aaC>aaG	p.N97K	REG3A_ENST00000305165.2_Missense_Mutation_p.N97K|REG3A_ENST00000393878.1_Missense_Mutation_p.N97K|AC011754.1_ENST00000415201.1_RNA	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	97	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)	p.N97K(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						ATGAGTAGCTGTTACCAATGC	0.572																																						uc002sod.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(289-291)AAC>AAG		pancreatitis-associated protein precursor							138.0	111.0	120.0					2																	79385494		2203	4300	6503	SO:0001583	missense	5068				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	g.chr2:79385494G>C	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.291C>G	2.37:g.79385494G>C	ENSP00000386630:p.Asn97Lys					REG3A_uc002soe.1_Missense_Mutation_p.N97K|REG3A_uc002sof.1_Missense_Mutation_p.N97K	p.N97K	NM_138938	NP_620355	Q06141	REG3A_HUMAN			3	546	-			97			C-type lectin.			Missense_Mutation	SNP	ENST00000409839.3	37	c.291C>G	CCDS1965.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.686087	0.29962	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.14022	2.54;2.54;2.54	4.02	-2.18	0.07037	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.860782	0.10218	N	0.701278	T	0.09335	0.0230	L	0.35593	1.075	0.09310	N	1	B	0.17667	0.023	B	0.29077	0.098	T	0.41556	-0.9502	10	0.35671	T	0.21	.	3.0855	0.06277	0.371:0.0:0.3207:0.3082	.	97	Q06141	REG3A_HUMAN	K	97	ENSP00000386630:N97K;ENSP00000377456:N97K;ENSP00000304311:N97K	ENSP00000304311:N97K	N	-	3	2	REG3A	79239002	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.113000	0.10774	-0.486000	0.06744	-1.099000	0.02127	AAC		PASS	0.572	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	NM_002580		15	62	15	62	---	---	---	---
REG3A	5068	broad.mit.edu	37	2	79385570	79385570	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr2:79385570G>T	ENST00000409839.3	-	4	251	c.215C>A	c.(214-216)cCc>cAc	p.P72H	REG3A_ENST00000305165.2_Missense_Mutation_p.P72H|REG3A_ENST00000393878.1_Missense_Mutation_p.P72H|AC011754.1_ENST00000415201.1_RNA	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	72	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)	p.P72H(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GTTTCCAGAGGGCCGCTTCTG	0.582																																						uc002sod.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(214-216)CCC>CAC		pancreatitis-associated protein precursor							97.0	86.0	90.0					2																	79385570		2203	4300	6503	SO:0001583	missense	5068				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	g.chr2:79385570G>T	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.215C>A	2.37:g.79385570G>T	ENSP00000386630:p.Pro72His					REG3A_uc002soe.1_Missense_Mutation_p.P72H|REG3A_uc002sof.1_Missense_Mutation_p.P72H	p.P72H	NM_138938	NP_620355	Q06141	REG3A_HUMAN			3	470	-			72			C-type lectin.			Missense_Mutation	SNP	ENST00000409839.3	37	c.215C>A	CCDS1965.1	.	.	.	.	.	.	.	.	.	.	G	3.557	-0.090390	0.07053	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.18174	2.23;2.23;2.23	4.02	1.08	0.20341	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.704642	0.12952	N	0.425749	T	0.10078	0.0247	L	0.28608	0.87	0.09310	N	1	B	0.17038	0.02	B	0.21151	0.033	T	0.33445	-0.9868	10	0.29301	T	0.29	.	2.5524	0.04752	0.1059:0.1874:0.5135:0.1932	.	72	Q06141	REG3A_HUMAN	H	72	ENSP00000386630:P72H;ENSP00000377456:P72H;ENSP00000304311:P72H	ENSP00000304311:P72H	P	-	2	0	REG3A	79239078	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	0.262000	0.18460	0.221000	0.20879	-0.199000	0.12753	CCC		PASS	0.582	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	NM_002580		11	64	11	64	---	---	---	---
RMND5A	64795	broad.mit.edu	37	2	86947815	86947815	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr2:86947815C>T	ENST00000283632.4	+	1	520	c.25C>T	c.(25-27)Cgc>Tgc	p.R9C	CHMP3_ENST00000439940.2_Intron|RNF103-CHMP3_ENST00000604011.1_Intron	NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	9								p.R9C(1)		kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						GACGGTGGAGCGCGAGCTGGA	0.716																																						uc010ytm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(25-27)CGC>TGC		required for meiotic nuclear division 5 homolog							13.0	15.0	14.0					2																	86947815		2160	4270	6430	SO:0001583	missense	64795							g.chr2:86947815C>T	BC012165	CCDS1991.1	2p11.2	2012-07-20			ENSG00000153561	ENSG00000153561			25850	protein-coding gene	gene with protein product	"""GID complex subunit 2 homolog A"""					12477932	Standard	NM_022780		Approved	FLJ13910, RMD5, GID2, GID2A	uc002srs.4	Q9H871	OTTHUMG00000130262	ENST00000283632.4:c.25C>T	2.37:g.86947815C>T	ENSP00000283632:p.Arg9Cys					RMND5A_uc002srs.3_5'UTR|VPS24_uc010ytl.1_Intron|RMND5A_uc002srr.2_Missense_Mutation_p.R9C	p.R9C	NM_022780	NP_073617	Q9H871	RMD5A_HUMAN			1	402	+			9					D6W5M6|Q6NTF0|Q9H6W5|Q9H9H2	Missense_Mutation	SNP	ENST00000283632.4	37	c.25C>T	CCDS1991.1	.	.	.	.	.	.	.	.	.	.	c	16.95	3.264350	0.59431	.	.	ENSG00000153561	ENST00000283632	.	.	.	4.01	3.12	0.35913	.	0.000000	0.49916	U	0.000131	T	0.53400	0.1794	L	0.27053	0.805	0.50813	D	0.999899	D	0.89917	1.0	D	0.67382	0.951	T	0.54084	-0.8346	9	0.87932	D	0	.	6.8382	0.23947	0.1731:0.7348:0.0:0.0921	.	9	Q9H871	RMD5A_HUMAN	C	9	.	ENSP00000283632:R9C	R	+	1	0	RMND5A	86801326	1.000000	0.71417	1.000000	0.80357	0.331000	0.28603	2.062000	0.41413	0.680000	0.31366	0.298000	0.19748	CGC		PASS	0.716	RMND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252591.2	NM_022780		4	4	4	4	---	---	---	---
IGKV1-6	28943	broad.mit.edu	37	2	89266205	89266205	+	RNA	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr2:89266205G>A	ENST00000464162.1	-	0	81									immunoglobulin kappa variable 1-6																		ATCCTTACCTGGGAGCCAGAG	0.557																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							133.0	127.0	129.0					2																	89266205		1908	4123	6031			0							g.chr2:89266205G>A	M64858		2p11.2	2012-02-10			ENSG00000239855	ENSG00000239855		"""Immunoglobulins / IGK locus"""	5742	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151559		2.37:g.89266205G>A						uc002stl.2_Intron								94		-									RNA	SNP	ENST00000464162.1	37	c.7487C>T																																																																																					PASS	0.557	IGKV1-6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323134.2	NG_000834		35	175	35	175	---	---	---	---
ZNF514	84874	broad.mit.edu	37	2	95815218	95815218	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr2:95815218G>A	ENST00000295208.2	-	5	1474	c.1012C>T	c.(1012-1014)Cat>Tat	p.H338Y	MRPS5_ENST00000475040.1_5'Flank|ZNF514_ENST00000411425.1_Missense_Mutation_p.H338Y	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H338Y(1)		large_intestine(4)|lung(6)|urinary_tract(1)	11						TCTCCAGTATGAAATCTGTAA	0.438																																						uc002sue.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1012-1014)CAT>TAT		zinc finger protein 514							66.0	64.0	65.0					2																	95815218		2203	4300	6503	SO:0001583	missense	84874				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:95815218G>A	AL832263	CCDS2011.1	2q11.2	2013-01-08			ENSG00000144026	ENSG00000144026		"""Zinc fingers, C2H2-type"", ""-"""	25894	protein-coding gene	gene with protein product							Standard	NM_032788		Approved	FLJ14457	uc002sue.1	Q96K75	OTTHUMG00000130391	ENST00000295208.2:c.1012C>T	2.37:g.95815218G>A	ENSP00000295208:p.His338Tyr					ZNF514_uc002sud.1_Missense_Mutation_p.H411Y	p.H338Y	NM_032788	NP_116177	Q96K75	ZN514_HUMAN			5	1386	-			338			C2H2-type 5.		Q5JPJ3	Missense_Mutation	SNP	ENST00000295208.2	37	c.1012C>T	CCDS2011.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620868	0.66787	.	.	ENSG00000144026	ENST00000295208;ENST00000411425	T;T	0.67523	-0.27;-0.27	2.4	2.4	0.29515	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85031	0.5604	H	0.95224	3.64	0.42436	D	0.992692	D;D	0.89917	0.999;1.0	D;D	0.97110	0.997;1.0	D	0.88109	0.2824	9	0.87932	D	0	.	10.9244	0.47184	0.0:0.0:1.0:0.0	.	338;157	Q96K75;Q658L7	ZN514_HUMAN;.	Y	338	ENSP00000295208:H338Y;ENSP00000405509:H338Y	ENSP00000295208:H338Y	H	-	1	0	ZNF514	95178945	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.252000	0.89840	1.640000	0.50565	0.655000	0.94253	CAT		PASS	0.438	ZNF514-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252769.1	NM_032788		32	53	32	53	---	---	---	---
STARD7-AS1	285033	broad.mit.edu	37	2	96906157	96906157	+	RNA	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr2:96906157G>T	ENST00000446816.1	+	0	564																											AACTCCTCATGGAAGCATCTG	0.443																																						uc002svp.1																			0					0						c.(94-96)ATG>ATT		hypothetical protein LOC285033							71.0	73.0	73.0					2																	96906157		1908	4119	6027			285033							g.chr2:96906157G>T																													2.37:g.96906157G>T						LOC285033_uc002svn.2_RNA|LOC285033_uc002svo.2_Intron	p.M32I	NM_001037228	NP_001032305	Q3KRF4	Q3KRF4_HUMAN			1	181	+			32						Missense_Mutation	SNP	ENST00000446816.1	37	c.96G>T																																																																																					PASS	0.443	AC012307.3-001	KNOWN	basic|exp_conf	antisense	processed_transcript	OTTHUMT00000338796.1			28	65	28	65	---	---	---	---
SNRNP200	23020	broad.mit.edu	37	2	96961333	96961333	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr2:96961333C>T	ENST00000323853.5	-	14	1812	c.1735G>A	c.(1735-1737)Gag>Aag	p.E579K	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	579	Helicase ATP-binding 1. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.E579K(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GCACTGATCTCTTCTTTGCAC	0.567																																						uc002svu.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|large_intestine(1)	10						c.(1735-1737)GAG>AAG		activating signal cointegrator 1 complex subunit							117.0	89.0	98.0					2																	96961333		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96961333C>T	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.1735G>A	2.37:g.96961333C>T	ENSP00000317123:p.Glu579Lys						p.E579K	NM_014014	NP_054733	O75643	U520_HUMAN			14	1821	-			579			Helicase ATP-binding 1.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.1735G>A	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	C	35	5.544433	0.96488	.	.	ENSG00000144028	ENST00000323853;ENST00000540328	T	0.14893	2.47	5.3	5.3	0.74995	DEAD-like helicase (2);ATPase, AAA+ type, core (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.050139	0.85682	D	0.000000	T	0.41465	0.1160	M	0.77486	2.375	0.80722	D	1	P	0.42584	0.784	P	0.55713	0.782	T	0.29181	-1.0020	10	0.87932	D	0	-20.604	17.7164	0.88338	0.0:1.0:0.0:0.0	.	579	O75643	U520_HUMAN	K	579;254	ENSP00000317123:E579K	ENSP00000317123:E579K	E	-	1	0	SNRNP200	96325060	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.411000	0.80078	2.467000	0.83353	0.561000	0.74099	GAG		PASS	0.567	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		33	52	33	52	---	---	---	---
ZAP70	7535	broad.mit.edu	37	2	98351892	98351892	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr2:98351892C>A	ENST00000264972.5	+	10	1477	c.1262C>A	c.(1261-1263)cCg>cAg	p.P421Q	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Missense_Mutation_p.P114Q|ZAP70_ENST00000442208.1_Missense_Mutation_p.P295Q	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	421	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.P421Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GGGGGCGGGCCGCTGCACAAG	0.682																																						uc002syd.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(1261-1263)CCG>CAG		zeta-chain associated protein kinase 70kDa							73.0	77.0	75.0					2																	98351892		2203	4300	6503	SO:0001583	missense	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98351892C>A	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1262C>A	2.37:g.98351892C>A	ENSP00000264972:p.Pro421Gln					ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Missense_Mutation_p.P311Q|ZAP70_uc002syf.1_Missense_Mutation_p.P114Q	p.P421Q	NM_001079	NP_001070	P43403	ZAP70_HUMAN			10	1469	+			421			Protein kinase.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	c.1262C>A	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.547997	0.65311	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	T;T;T	0.62105	0.05;0.05;0.05	5.65	5.65	0.86999	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49916	D	0.000134	T	0.72755	0.3500	L	0.43923	1.385	0.58432	D	0.999999	D;D	0.67145	0.996;0.97	D;D	0.66196	0.942;0.914	T	0.73802	-0.3868	10	0.72032	D	0.01	.	17.5952	0.88010	0.0:1.0:0.0:0.0	.	295;421	P43403-3;P43403	.;ZAP70_HUMAN	Q	421;295;114	ENSP00000264972:P421Q;ENSP00000411141:P295Q;ENSP00000400475:P114Q	ENSP00000264972:P421Q	P	+	2	0	ZAP70	97718324	1.000000	0.71417	0.994000	0.49952	0.360000	0.29518	5.966000	0.70395	2.844000	0.97970	0.643000	0.83706	CCG		PASS	0.682	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			35	63	35	63	---	---	---	---
SLC9A4	389015	broad.mit.edu	37	2	103142801	103142801	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr2:103142801C>A	ENST00000295269.4	+	11	2491	c.2034C>A	c.(2032-2034)ttC>ttA	p.F678L		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	678					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.F678L(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CTGCTGGGTTCTCAGGTAAGC	0.532																																						uc002tbz.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(2032-2034)TTC>TTA		solute carrier family 9 (sodium/hydrogen							98.0	88.0	91.0					2																	103142801		2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103142801C>A		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.2034C>A	2.37:g.103142801C>A	ENSP00000295269:p.Phe678Leu						p.F678L	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			11	2491	+			678			Cytoplasmic (Potential).		Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.2034C>A	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	C	7.514	0.655233	0.14580	.	.	ENSG00000180251	ENST00000295269	T	0.43688	0.94	5.8	2.68	0.31781	.	1.814200	0.03046	N	0.153949	T	0.30479	0.0766	L	0.32530	0.975	0.09310	N	1	B	0.25441	0.126	B	0.21546	0.035	T	0.18681	-1.0329	10	0.09590	T	0.72	.	5.576	0.17222	0.0:0.6307:0.0:0.3693	.	678	Q6AI14	SL9A4_HUMAN	L	678	ENSP00000295269:F678L	ENSP00000295269:F678L	F	+	3	2	SLC9A4	102509233	0.008000	0.16893	0.003000	0.11579	0.016000	0.09150	0.809000	0.27168	0.806000	0.34183	0.655000	0.94253	TTC		PASS	0.532	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		12	139	12	139	---	---	---	---
POTEE	445582	broad.mit.edu	37	2	132020969	132020969	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr2:132020969A>T	ENST00000356920.5	+	15	2035	c.1941A>T	c.(1939-1941)gaA>gaT	p.E647D	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	647					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.E647D(1)									TCTTGCATGAAAATAGTACGT	0.353																																						uc002tsn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1939-1941)GAA>GAT		protein expressed in prostate, ovary, testis,							27.0	29.0	28.0					2																	132020969		1938	4163	6101	SO:0001583	missense	445582						ATP binding	g.chr2:132020969A>T	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.1941A>T	2.37:g.132020969A>T	ENSP00000439189:p.Glu647Asp					PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.E247D|POTEE_uc002tsl.2_Missense_Mutation_p.E229D|POTEE_uc010fmy.1_Missense_Mutation_p.E111D	p.E647D	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			15	1993	+			647			Potential.		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.1941A>T	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	10.24	1.296256	0.23650	.	.	ENSG00000188219	ENST00000356920	T	0.79247	-1.25	0.993	-0.217	0.13149	.	.	.	.	.	T	0.67325	0.2881	M	0.76838	2.35	0.25569	N	0.986913	P	0.42584	0.784	B	0.28784	0.094	T	0.61667	-0.7016	9	0.87932	D	0	.	2.8547	0.05569	0.6759:0.0:0.3241:0.0	.	647	Q6S8J3	POTEE_HUMAN	D	647	ENSP00000439189:E647D	ENSP00000439189:E647D	E	+	3	2	AC131180.1	131737439	0.810000	0.29049	0.005000	0.12908	0.012000	0.07955	1.495000	0.35627	-0.075000	0.12798	0.155000	0.16302	GAA		PASS	0.353	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		14	30	14	30	---	---	---	---
ZRANB3	84083	broad.mit.edu	37	2	135988481	135988481	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr2:135988481T>C	ENST00000264159.6	-	13	1672	c.1556A>G	c.(1555-1557)cAg>cGg	p.Q519R	ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000401392.1_Missense_Mutation_p.Q519R|ZRANB3_ENST00000536680.1_Missense_Mutation_p.Q519R	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	519					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)	p.Q519R(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		AATATCATGCTGTTTTTCTTT	0.323																																						uc002tum.2																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(1555-1557)CAG>CGG		zinc finger, RAN-binding domain containing 3							48.0	46.0	46.0					2																	135988481		1815	4076	5891	SO:0001583	missense	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:135988481T>C	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.1556A>G	2.37:g.135988481T>C	ENSP00000264159:p.Gln519Arg					ZRANB3_uc002tuk.2_Missense_Mutation_p.Q62R|ZRANB3_uc002tul.2_Missense_Mutation_p.Q519R	p.Q519R	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	13	1673	-			519					B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	ENST00000264159.6	37	c.1556A>G	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.392701	0.83011	.	.	ENSG00000121988	ENST00000401392;ENST00000264159;ENST00000536680	D;D;D	0.91631	-2.88;-2.88;-2.87	5.79	5.79	0.91817	.	0.120537	0.56097	D	0.000021	D	0.93213	0.7838	L	0.58669	1.825	0.46061	D	0.998845	P;D	0.55385	0.951;0.971	P;P	0.53722	0.545;0.733	D	0.93492	0.6836	10	0.59425	D	0.04	0.8751	14.3592	0.66757	0.0:0.0:0.0:1.0	.	519;519	Q5FWF4;Q5FWF4-3	ZRAB3_HUMAN;.	R	519	ENSP00000383979:Q519R;ENSP00000264159:Q519R;ENSP00000441320:Q519R	ENSP00000264159:Q519R	Q	-	2	0	ZRANB3	135704951	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.401000	0.66326	2.212000	0.71576	0.460000	0.39030	CAG		PASS	0.323	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		31	33	31	33	---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	138169316	138169316	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr2:138169316G>A	ENST00000409968.1	+	14	3011	c.2833G>A	c.(2833-2835)Gag>Aag	p.E945K	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.E914K|THSD7B_ENST00000272643.3_Missense_Mutation_p.E945K			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	945	TSP type-1 12. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.E945K(1)|p.E914K(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGGCAGAAGGGAGCCTCACCG	0.478																																						uc002tva.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(2740-2742)GAG>AAG		thrombospondin, type I, domain containing 7B							126.0	123.0	124.0					2																	138169316		1947	4135	6082	SO:0001583	missense	80731							g.chr2:138169316G>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.2833G>A	2.37:g.138169316G>A	ENSP00000387145:p.Glu945Lys					THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.E804K	p.E914K	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	13	2740	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.2740G>A		.	.	.	.	.	.	.	.	.	.	G	14.02	2.411843	0.42817	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.23348	2.43;2.3;1.91	5.84	4.94	0.65067	.	0.408932	0.27298	N	0.020010	T	0.27098	0.0664	M	0.66939	2.045	0.80722	D	1	B;B	0.31174	0.151;0.311	B;B	0.28991	0.097;0.097	T	0.08597	-1.0714	10	0.07644	T	0.81	.	16.785	0.85572	0.0:0.129:0.871:0.0	.	945;914	Q9C0I4;C9JKN6	THS7B_HUMAN;.	K	945;945;914	ENSP00000387145:E945K;ENSP00000272643:E945K;ENSP00000413841:E914K	ENSP00000272643:E945K	E	+	1	0	THSD7B	137885786	1.000000	0.71417	0.039000	0.18376	0.198000	0.23893	4.821000	0.62679	1.434000	0.47414	0.557000	0.71058	GAG		PASS	0.478	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		23	140	23	140	---	---	---	---
RIF1	55183	broad.mit.edu	37	2	152314451	152314451	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr2:152314451G>A	ENST00000243326.5	+	23	3312	c.2829G>A	c.(2827-2829)atG>atA	p.M943I	RIF1_ENST00000444746.2_Missense_Mutation_p.M943I|RIF1_ENST00000453091.2_Missense_Mutation_p.M943I|RIF1_ENST00000430328.2_Missense_Mutation_p.M943I|RIF1_ENST00000428287.2_Missense_Mutation_p.M943I			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.M943I(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CCAAAGTGATGATGTTGGTTT	0.323																																						uc002txm.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15						c.(2827-2829)ATG>ATA		RAP1 interacting factor 1							78.0	78.0	78.0					2																	152314451		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152314451G>A	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.2829G>A	2.37:g.152314451G>A	ENSP00000243326:p.Met943Ile					RIF1_uc002txl.2_Missense_Mutation_p.M943I|RIF1_uc002txn.2_Missense_Mutation_p.M943I|RIF1_uc002txo.2_Missense_Mutation_p.M943I	p.M943I	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	24	2959	+			943					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.2829G>A	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	G	4.887	0.164783	0.09287	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.09163	3.02;3.01;3.01;3.02;3.01	5.83	-6.27	0.02026	.	0.617579	0.18456	N	0.140689	T	0.03520	0.0101	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.0;0.006	B;B	0.12837	0.001;0.008	T	0.25047	-1.0143	10	0.41790	T	0.15	0.0266	4.8818	0.13683	0.4809:0.3127:0.1225:0.0839	.	943;943	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	I	943	ENSP00000390181:M943I;ENSP00000414615:M943I;ENSP00000415691:M943I;ENSP00000243326:M943I;ENSP00000416123:M943I	ENSP00000243326:M943I	M	+	3	0	RIF1	152022697	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.484000	0.00980	-0.862000	0.04089	-1.779000	0.00650	ATG		PASS	0.323	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			18	58	18	58	---	---	---	---
RBMS1	5937	broad.mit.edu	37	2	161223842	161223842	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr2:161223842T>C	ENST00000348849.3	-	2	566	c.136A>G	c.(136-138)Aac>Gac	p.N46D	RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409075.1_Missense_Mutation_p.N13D|RBMS1_ENST00000409972.1_Missense_Mutation_p.N13D|RBMS1_ENST00000409289.2_Missense_Mutation_p.N13D|RBMS1_ENST00000392753.3_Missense_Mutation_p.N46D	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	46					DNA replication (GO:0006260)|RNA processing (GO:0006396)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.N46D(1)	PLA2R1/RBMS1(2)								ctactgttgttattactgctg	0.547																																						uc002ubo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(136-138)AAC>GAC		RNA binding motif, single stranded interacting							108.0	98.0	102.0					2																	161223842		2203	4300	6503	SO:0001583	missense	5937				DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding	g.chr2:161223842T>C	D28482	CCDS2213.1	2q24.2	2013-02-12			ENSG00000153250	ENSG00000153250		"""RNA binding motif (RRM) containing"""	9907	protein-coding gene	gene with protein product	"""suppressor of cdc 2 (cdc13) with RNA binding motif 2"", ""c-myc gene single strand binding protein 2"""	602310	"""chromosome 2 open reading frame 12"""	C2orf12		8041632, 8134115, 7838710	Standard	NM_016836		Approved	SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764	uc002ubo.3	P29558	OTTHUMG00000132031	ENST00000348849.3:c.136A>G	2.37:g.161223842T>C	ENSP00000294904:p.Asn46Asp					RBMS1_uc002ubj.2_Missense_Mutation_p.N13D|RBMS1_uc002ubk.2_Missense_Mutation_p.N13D|RBMS1_uc002ubl.2_Missense_Mutation_p.N44D|RBMS1_uc002ubn.2_Missense_Mutation_p.N46D|RBMS1_uc002ubi.3_Missense_Mutation_p.N46D|RBMS1_uc002ubm.2_Missense_Mutation_p.N13D|RBMS1_uc002ubp.2_Missense_Mutation_p.N46D|RBMS1_uc010fox.2_Missense_Mutation_p.N46D	p.N46D	NM_016836	NP_058520	P29558	RBMS1_HUMAN			2	580	-			46					Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	Missense_Mutation	SNP	ENST00000348849.3	37	c.136A>G	CCDS2213.1	.	.	.	.	.	.	.	.	.	.	T	36	5.714209	0.96830	.	.	ENSG00000153250	ENST00000348849;ENST00000409075;ENST00000409289;ENST00000392753;ENST00000409972;ENST00000428519	T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28	5.62	5.62	0.85841	Nucleotide-binding, alpha-beta plait (1);	0.258020	0.42420	D	0.000709	T	0.35098	0.0920	L	0.50333	1.59	0.80722	D	1	P;B;P;B;B;P	0.46395	0.877;0.39;0.525;0.39;0.39;0.622	B;B;B;B;B;B	0.40741	0.339;0.108;0.217;0.108;0.074;0.152	T	0.09574	-1.0668	10	0.30854	T	0.27	.	15.78	0.78252	0.0:0.0:0.0:1.0	.	13;46;46;13;13;46	D3DPB2;P29558;P29558-2;E7EPF2;E7ETU5;B4DN88	.;RBMS1_HUMAN;.;.;.;.	D	46;13;13;46;13;13	ENSP00000294904:N46D;ENSP00000386347:N13D;ENSP00000386571:N13D;ENSP00000376508:N46D;ENSP00000387280:N13D;ENSP00000389016:N13D	ENSP00000294904:N46D	N	-	1	0	RBMS1	160932088	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.685000	0.84117	2.255000	0.74692	0.533000	0.62120	AAC		PASS	0.547	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255043.4	NM_016836		34	48	34	48	---	---	---	---
SCN2A	6326	broad.mit.edu	37	2	166183402	166183402	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr2:166183402G>T	ENST00000375437.2	+	13	2347	c.2057G>T	c.(2056-2058)aGt>aTt	p.S686I	SCN2A_ENST00000283256.6_Missense_Mutation_p.S686I|SCN2A_ENST00000357398.3_Missense_Mutation_p.S686I|SCN2A_ENST00000375427.2_Missense_Mutation_p.S686I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	686					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.S686I(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGACGGTCCAGTTCTTATCAT	0.378																																						uc002udc.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(1)|pancreas(1)	8						c.(2056-2058)AGT>ATT		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						174.0	167.0	169.0					2																	166183402		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166183402G>T	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2057G>T	2.37:g.166183402G>T	ENSP00000364586:p.Ser686Ile					SCN2A_uc002udd.2_Missense_Mutation_p.S686I|SCN2A_uc002ude.2_Missense_Mutation_p.S686I	p.S686I	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			13	2347	+			686					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.2057G>T	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418139	0.83449	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83	5.8	4.9	0.64082	Domain of unknown function DUF3451 (1);	0.244803	0.37053	N	0.002270	D	0.95573	0.8561	M	0.86178	2.8	0.41530	D	0.988455	P;D	0.65815	0.647;0.995	B;D	0.73708	0.326;0.981	D	0.96285	0.9209	10	0.72032	D	0.01	.	16.059	0.80826	0.0:0.0:0.8647:0.1352	.	686;686	Q99250-2;Q99250	.;SCN2A_HUMAN	I	686	ENSP00000364586:S686I;ENSP00000349973:S686I;ENSP00000283256:S686I;ENSP00000364576:S686I	ENSP00000283256:S686I	S	+	2	0	SCN2A	165891648	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.595000	0.74109	1.405000	0.46838	0.650000	0.86243	AGT		PASS	0.378	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		24	160	24	160	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170011089	170011089	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr2:170011089G>A	ENST00000263816.3	-	66	12461	c.12176C>T	c.(12175-12177)cCt>cTt	p.P4059L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4059					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.P4059L(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GACATTGTCAGGCAGTAGCAA	0.353																																						uc002ues.2																			1	Substitution - Missense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(12175-12177)CCT>CTT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						74.0	73.0	74.0					2																	170011089		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170011089G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.12176C>T	2.37:g.170011089G>A	ENSP00000263816:p.Pro4059Leu						p.P4059L	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	66	12389	-			4059			Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.12176C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.975421	0.92919	.	.	ENSG00000081479	ENST00000263816	D	0.90732	-2.72	5.7	5.7	0.88788	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.052332	0.85682	D	0.000000	D	0.91811	0.7409	M	0.80028	2.48	0.80722	D	1	P	0.43857	0.819	B	0.40901	0.343	D	0.92146	0.5724	10	0.51188	T	0.08	.	19.8457	0.96706	0.0:0.0:1.0:0.0	.	4059	P98164	LRP2_HUMAN	L	4059	ENSP00000263816:P4059L	ENSP00000263816:P4059L	P	-	2	0	LRP2	169719335	1.000000	0.71417	0.996000	0.52242	0.950000	0.60333	9.605000	0.98321	2.662000	0.90505	0.655000	0.94253	CCT		PASS	0.353	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		38	46	38	46	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170022552	170022552	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr2:170022552C>T	ENST00000263816.3	-	62	11933	c.11648G>A	c.(11647-11649)tGt>tAt	p.C3883Y		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3883	LDL-receptor class A 35. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.C3883Y(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TGGTGAATTACAGGGAACATC	0.408																																						uc002ues.2																			1	Substitution - Missense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(11647-11649)TGT>TAT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						143.0	133.0	136.0					2																	170022552		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170022552C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11648G>A	2.37:g.170022552C>T	ENSP00000263816:p.Cys3883Tyr						p.C3883Y	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	62	11861	-			3883			LDL-receptor class A 35.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.11648G>A	CCDS2232.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.5|23.5	4.423409|4.423409	0.83559|0.83559	.|.	.|.	ENSG00000081479|ENSG00000081479	ENST00000263816|ENST00000536293	D|.	0.99519|.	-6.07|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.90665|0.90665	0.7072|0.7072	H|H	0.98629|0.98629	4.285|4.285	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.89946|0.89946	0.4076|0.4076	10|6	0.87932|0.22109	D|T	0|0.4	.|.	20.6397|20.6397	0.99537|0.99537	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3883|.	P98164|.	LRP2_HUMAN|.	Y|I	3883|548	ENSP00000263816:C3883Y|.	ENSP00000263816:C3883Y|ENSP00000438157:V548I	C|V	-|-	2|1	0|0	LRP2|LRP2	169730798|169730798	1.000000|1.000000	0.71417|0.71417	0.973000|0.973000	0.42090|0.42090	0.622000|0.622000	0.37654|0.37654	7.818000|7.818000	0.86416|0.86416	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	TGT|GTA		PASS	0.408	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		48	60	48	60	---	---	---	---
MYO3B	140469	broad.mit.edu	37	2	171509592	171509592	+	Silent	SNP	T	T	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr2:171509592T>C	ENST00000408978.4	+	35	4130	c.3987T>C	c.(3985-3987)ttT>ttC	p.F1329F	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000334231.6_Silent_p.F1338F|MYO3B_ENST00000409044.3_Silent_p.F1302F|AC007277.3_ENST00000428156.1_RNA	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	1329					peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)	p.F1329F(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CTTCCTTTTTTTCTTCATCCT	0.418																																						uc002ufy.2																			1	Substitution - coding silent(1)		lung(1)	lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						c.(3985-3987)TTT>TTC		myosin IIIB isoform 2							144.0	139.0	140.0					2																	171509592		1850	4098	5948	SO:0001819	synonymous_variant	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171509592T>C		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.3987T>C	2.37:g.171509592T>C						MYO3B_uc002ufz.2_Silent_p.F1302F|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA|uc002ugc.1_Intron	p.F1329F	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN			35	4130	+			1329					B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Silent	SNP	ENST00000408978.4	37	c.3987T>C	CCDS42773.1																																																																																				PASS	0.418	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			15	163	15	163	---	---	---	---
NFE2L2	4780	broad.mit.edu	37	2	178098960	178098960	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr2:178098960C>A	ENST00000397062.3	-	2	639	c.85G>T	c.(85-87)Gat>Tat	p.D29Y	NFE2L2_ENST00000423513.1_Missense_Mutation_p.D13Y|NFE2L2_ENST00000464747.1_Missense_Mutation_p.D13Y|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D13Y|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D13Y	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	29					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D29H(11)|p.D29N(2)|p.D29Y(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTCCAAGATCTATATCTTGC	0.363			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		15	Substitution - Missense(15)		lung(9)|upper_aerodigestive_tract(3)|cervix(1)|liver(1)|kidney(1)	central_nervous_system(1)	1						c.(85-87)GAT>TAT		nuclear factor erythroid 2-like 2 isoform 1							66.0	59.0	61.0					2																	178098960		1843	4100	5943	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098960C>A		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.85G>T	2.37:g.178098960C>A	ENSP00000380252:p.Asp29Tyr	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.D13Y|NFE2L2_uc010zfa.1_Missense_Mutation_p.D13Y|NFE2L2_uc002uli.3_Missense_Mutation_p.D13Y|NFE2L2_uc010fra.2_Missense_Mutation_p.D13Y|NFE2L2_uc010frb.2_Missense_Mutation_p.D13Y	p.D29Y	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	640	-			29					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.85G>T	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014623	0.75161	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4;1.4	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.68109	0.2965	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	T	0.72623	-0.4237	10	0.87932	D	0	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	13;13;13;29	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	Y	13;29;13;13;13;13;13	ENSP00000380253:D13Y;ENSP00000380252:D29Y;ENSP00000411575:D13Y;ENSP00000391590:D13Y;ENSP00000400073:D13Y;ENSP00000412191:D13Y;ENSP00000410015:D13Y	ENSP00000380252:D29Y	D	-	1	0	NFE2L2	177807206	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.487000	0.81328	2.737000	0.93849	0.563000	0.77884	GAT		PASS	0.363	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		22	44	22	44	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179402140	179402140	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr2:179402140G>T	ENST00000591111.1	-	305	95095	c.94871C>A	c.(94870-94872)gCt>gAt	p.A31624D	TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A30697D|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A24325D|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A33265D|TTN_ENST00000460472.2_Missense_Mutation_p.A24200D|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A24392D|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31624					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.A24325D(1)|p.A24200D(1)|p.A30695D(1)|p.A24392D(1)|p.A30697D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTATTTCCCAGCATGAGTCTT	0.353																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(92089-92091)GCT>GAT		titin isoform N2-A							79.0	68.0	71.0					2																	179402140		1870	4108	5978	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179402140G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.94871C>A	2.37:g.179402140G>T	ENSP00000465570:p.Ala31624Asp					uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A24392D|TTN_uc010zfi.1_Missense_Mutation_p.A24325D|TTN_uc010zfj.1_Missense_Mutation_p.A24200D	p.A30697D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	92314	-			31624					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.92090C>A		.	.	.	.	.	.	.	.	.	.	G	20.7	4.039812	0.75732	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	5.79	5.79	0.91817	Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79287	0.4420	M	0.66506	2.035	0.58432	D	0.999992	D;D;D;D	0.69078	0.991;0.991;0.991;0.997	P;P;P;P	0.58660	0.633;0.633;0.633;0.843	T	0.80504	-0.1353	9	0.87932	D	0	.	20.0361	0.97558	0.0:0.0:1.0:0.0	.	24200;24325;24392;31624	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	30697;24200;24392;24325;24197	ENSP00000343764:A30697D;ENSP00000434586:A24200D;ENSP00000340554:A24392D;ENSP00000352154:A24325D	ENSP00000340554:A24392D	A	-	2	0	TTN	179110386	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.700000	0.74619	2.740000	0.93945	0.563000	0.77884	GCT		PASS	0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	31	18	31	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179614327	179614327	+	Intron	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr2:179614327C>A	ENST00000591111.1	-	45	10585				TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.G4267V			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G4267E(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAATATTTTCCATAAATTTC	0.388																																						uc002unb.2																			1	Substitution - Missense(1)		skin(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(12799-12801)GGA>GTA		titin isoform novex-3							55.0	58.0	57.0					2																	179614327		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179614327C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+3523G>T	2.37:g.179614327C>A						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.G4267V	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	13024	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.12800G>T		.	.	.	.	.	.	.	.	.	.	C	5.107	0.205291	0.09704	.	.	ENSG00000155657	ENST00000360870	T	0.55413	0.52	6.17	-0.914	0.10497	.	.	.	.	.	T	0.23171	0.0560	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.15235	-1.0444	9	0.23891	T	0.37	.	0.1843	0.00127	0.2486:0.2239:0.1816:0.3459	.	4267	Q8WZ42-6	.	V	4267	ENSP00000354117:G4267V	ENSP00000354117:G4267V	G	-	2	0	TTN	179322572	0.000000	0.05858	0.004000	0.12327	0.021000	0.10359	-0.165000	0.09968	0.100000	0.17581	-0.165000	0.13383	GGA		PASS	0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		22	98	22	98	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179644883	179644883	+	Silent	SNP	T	T	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr2:179644883T>C	ENST00000591111.1	-	22	3797	c.3573A>G	c.(3571-3573)acA>acG	p.T1191T	TTN_ENST00000342992.6_Silent_p.T1191T|TTN_ENST00000359218.5_Silent_p.T1145T|TTN_ENST00000589042.1_Silent_p.T1191T|TTN_ENST00000460472.2_Silent_p.T1145T|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342175.6_Silent_p.T1145T|TTN_ENST00000360870.5_Silent_p.T1191T			Q8WZ42	TITIN_HUMAN	titin	33409					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T1191T(3)|p.T1145T(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGTCACTTGTGTCTGATAAA	0.338																																						uc010zfg.1																			6	Substitution - coding silent(6)		lung(6)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(3571-3573)ACA>ACG		titin isoform N2-A							120.0	115.0	117.0					2																	179644883		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179644883T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.3573A>G	2.37:g.179644883T>C						TTN_uc010zfh.1_Silent_p.T1145T|TTN_uc010zfi.1_Silent_p.T1145T|TTN_uc010zfj.1_Silent_p.T1145T|TTN_uc002unb.2_Silent_p.T1191T	p.T1191T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		22	3797	-			1191					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.3573A>G																																																																																					PASS	0.338	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	99	16	99	---	---	---	---
CCDC141	285025	broad.mit.edu	37	2	179720202	179720202	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr2:179720202C>A	ENST00000420890.2	-	19	3049	c.2932G>T	c.(2932-2934)Gat>Tat	p.D978Y	CCDC141_ENST00000295723.5_Missense_Mutation_p.D403Y	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	978								p.D978Y(1)|p.D403Y(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTAACTTTATCACTTGGATAA	0.308																																						uc002unf.1																			2	Substitution - Missense(2)		lung(2)	ovary(7)|pancreas(2)|skin(1)	10						c.(1207-1209)GAT>TAT		coiled-coil domain containing 141							84.0	87.0	86.0					2																	179720202		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179720202C>A	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2932G>T	2.37:g.179720202C>A	ENSP00000395995:p.Asp978Tyr						p.D403Y	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		9	1264	-			403					H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.1207G>T		.	.	.	.	.	.	.	.	.	.	C	14.20	2.464633	0.43736	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.40476	1.03;1.03;1.03	4.47	-2.48	0.06423	.	0.295108	0.24592	N	0.037209	T	0.14700	0.0355	N	0.08118	0	0.19945	N	0.999948	B	0.09022	0.002	B	0.10450	0.005	T	0.11494	-1.0585	10	0.19147	T	0.46	-5.2926	2.3626	0.04311	0.1292:0.3718:0.1322:0.3668	.	403	Q6ZP82	CC141_HUMAN	Y	978;422;403	ENSP00000395995:D978Y;ENSP00000344627:D422Y;ENSP00000295723:D403Y	ENSP00000295723:D403Y	D	-	1	0	CCDC141	179428447	0.671000	0.27521	0.961000	0.40146	0.845000	0.48019	0.650000	0.24858	-0.541000	0.06257	-1.224000	0.01588	GAT		PASS	0.308	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		34	60	34	60	---	---	---	---
CWC22	57703	broad.mit.edu	37	2	180815461	180815461	+	Splice_Site	SNP	T	T	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr2:180815461T>C	ENST00000410053.3	-	19	2219		c.e19-2		CWC22_ENST00000295749.6_Splice_Site	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein						mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						AGTTCATCCCTAATTTAAAAT	0.343																																						uc010frh.1																			1	Unknown(1)		lung(1)		0						c.e19-1		CWC22 spliceosome-associated protein homolog							96.0	92.0	93.0					2																	180815461		1840	4086	5926	SO:0001630	splice_region_variant	57703					catalytic step 2 spliceosome	protein binding|RNA binding	g.chr2:180815461T>C		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein b"""	615186	"""CWC22 spliceosome-associated protein homolog (S. cerevisiae)"""			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.1920-2A>G	2.37:g.180815461T>C						CWC22_uc002uno.2_Splice_Site_p.T162_splice|CWC22_uc002unp.2_Splice_Site_p.T640_splice	p.T640_splice	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN			19	2220	-								Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Splice_Site	SNP	ENST00000410053.3	37	c.1920_splice	CCDS46465.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.069535	0.76301	.	.	ENSG00000163510	ENST00000410053;ENST00000295749;ENST00000404136	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4463	0.75232	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CWC22	180523706	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	5.984000	0.70548	2.241000	0.73720	0.528000	0.53228	.		PASS	0.343	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943	Intron	17	76	17	76	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196851843	196851843	+	Silent	SNP	A	A	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr2:196851843A>G	ENST00000312428.6	-	14	1801	c.1701T>C	c.(1699-1701)atT>atC	p.I567I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	567	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.I567I(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTTTCCCACAAATAATATCTG	0.328																																						uc002utj.3																			1	Substitution - coding silent(1)		lung(1)	skin(10)|ovary(2)	12						c.(1699-1701)ATT>ATC		dynein, axonemal, heavy chain 7							103.0	97.0	99.0					2																	196851843		1814	4076	5890	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196851843A>G	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.1701T>C	2.37:g.196851843A>G							p.I567I	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			14	1802	-			567			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.1701T>C	CCDS42794.1																																																																																				PASS	0.328	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		48	72	48	72	---	---	---	---
PLCL1	5334	broad.mit.edu	37	2	198950673	198950673	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr2:198950673A>T	ENST00000428675.1	+	2	2830	c.2432A>T	c.(2431-2433)cAa>cTa	p.Q811L	PLCL1_ENST00000437704.2_Missense_Mutation_p.Q713L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	811	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.Q713L(1)|p.Q811L(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TTTATAGGGCAATATACGATA	0.438																																						uc010fsp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(2431-2433)CAA>CTA		RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)						199.0	182.0	188.0					2																	198950673		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950673A>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2432A>T	2.37:g.198950673A>T	ENSP00000402861:p.Gln811Leu					PLCL1_uc002uuv.3_Missense_Mutation_p.Q732L	p.Q811L	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			2	2723	+			811			C2.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.2432A>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	A	15.06	2.721349	0.48728	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.70516	-0.49;-0.49	5.5	5.5	0.81552	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.201250	0.35207	N	0.003373	T	0.81607	0.4858	M	0.86805	2.84	0.80722	D	1	P;P	0.45011	0.848;0.848	P;P	0.50825	0.651;0.651	D	0.83881	0.0279	9	.	.	.	.	15.7759	0.78214	1.0:0.0:0.0:0.0	.	811;737	Q15111;B4DYZ4	PLCL1_HUMAN;.	L	811;713	ENSP00000402861:Q811L;ENSP00000414138:Q713L	.	Q	+	2	0	PLCL1	198658918	1.000000	0.71417	0.960000	0.40013	0.973000	0.67179	9.127000	0.94417	2.308000	0.77769	0.533000	0.62120	CAA		PASS	0.438	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		60	76	60	76	---	---	---	---
FN1	2335	broad.mit.edu	37	2	216272842	216272842	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr2:216272842G>T	ENST00000359671.1	-	17	2772	c.2507C>A	c.(2506-2508)gCt>gAt	p.A836D	FN1_ENST00000346544.3_Missense_Mutation_p.A836D|FN1_ENST00000357009.2_Missense_Mutation_p.A836D|FN1_ENST00000421182.1_Missense_Mutation_p.A836D|FN1_ENST00000345488.5_Missense_Mutation_p.A836D|FN1_ENST00000357867.4_Missense_Mutation_p.A836D|FN1_ENST00000446046.1_Missense_Mutation_p.A836D|FN1_ENST00000443816.1_Missense_Mutation_p.A836D|FN1_ENST00000356005.4_Missense_Mutation_p.A836D|FN1_ENST00000354785.4_Missense_Mutation_p.A836D|FN1_ENST00000323926.6_Missense_Mutation_p.A836D|FN1_ENST00000336916.4_Missense_Mutation_p.A836D|FN1_ENST00000432072.2_Missense_Mutation_p.A836D			P02751	FINC_HUMAN	fibronectin 1	836	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.A836D(2)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TGTGATGGGAGCCTGGGGTCT	0.532																																						uc002vfa.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(2506-2508)GCT>GAT		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						82.0	89.0	87.0					2																	216272842		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216272842G>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.2507C>A	2.37:g.216272842G>T	ENSP00000352696:p.Ala836Asp					FN1_uc002vfb.2_Missense_Mutation_p.A836D|FN1_uc002vfc.2_Missense_Mutation_p.A836D|FN1_uc002vfd.2_Missense_Mutation_p.A836D|FN1_uc002vfe.2_Missense_Mutation_p.A836D|FN1_uc002vff.2_Missense_Mutation_p.A836D|FN1_uc002vfg.2_Missense_Mutation_p.A836D|FN1_uc002vfh.2_Missense_Mutation_p.A836D|FN1_uc002vfi.2_Missense_Mutation_p.A836D|FN1_uc002vfj.2_Missense_Mutation_p.A836D	p.A836D	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	17	2773	-		Renal(323;0.127)	836			Fibronectin type-III 3.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.2507C>A		.	.	.	.	.	.	.	.	.	.	G	23.4	4.413220	0.83449	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61	5.89	5.89	0.94794	.	0.000000	0.64402	D	0.000002	T	0.73040	0.3536	M	0.81112	2.525	0.80722	D	1	B;D;B;B;B;B;B;B;B;D	0.89917	0.043;1.0;0.019;0.039;0.04;0.098;0.027;0.067;0.039;1.0	B;D;B;B;B;B;B;B;B;D	0.91635	0.108;0.996;0.091;0.047;0.057;0.14;0.101;0.047;0.047;0.999	T	0.74925	-0.3498	10	0.87932	D	0	.	20.3212	0.98679	0.0:0.0:1.0:0.0	.	836;836;836;836;836;836;836;836;836;836	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	D	836	ENSP00000394423:A836D;ENSP00000323534:A836D;ENSP00000338200:A836D;ENSP00000350534:A836D;ENSP00000346839:A836D;ENSP00000352696:A836D;ENSP00000265312:A836D;ENSP00000273049:A836D;ENSP00000349509:A836D;ENSP00000410422:A836D;ENSP00000415018:A836D;ENSP00000399538:A836D;ENSP00000348285:A836D	ENSP00000265313:A836D	A	-	2	0	FN1	215981087	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	9.750000	0.98875	2.810000	0.96702	0.650000	0.86243	GCT		PASS	0.532	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		20	169	20	169	---	---	---	---
FN1	2335	broad.mit.edu	37	2	216293051	216293051	+	Silent	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr2:216293051G>A	ENST00000359671.1	-	6	961	c.696C>T	c.(694-696)aaC>aaT	p.N232N	FN1_ENST00000346544.3_Silent_p.N232N|FN1_ENST00000357009.2_Silent_p.N232N|FN1_ENST00000421182.1_Silent_p.N232N|FN1_ENST00000345488.5_Silent_p.N232N|FN1_ENST00000357867.4_Silent_p.N232N|FN1_ENST00000446046.1_Silent_p.N232N|FN1_ENST00000443816.1_Silent_p.N232N|FN1_ENST00000356005.4_Silent_p.N232N|FN1_ENST00000354785.4_Silent_p.N232N|FN1_ENST00000323926.6_Silent_p.N232N|FN1_ENST00000336916.4_Silent_p.N232N|FN1_ENST00000426059.1_Silent_p.N232N|FN1_ENST00000432072.2_Silent_p.N232N			P02751	FINC_HUMAN	fibronectin 1	232	Fibrin- and heparin-binding 1.|Fibronectin type-I 5. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.N232N(2)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TGTCCTGATCGTTGCATCTAT	0.468																																						uc002vfa.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(694-696)AAC>AAT		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						129.0	102.0	111.0					2																	216293051		2203	4300	6503	SO:0001819	synonymous_variant	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216293051G>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.696C>T	2.37:g.216293051G>A						FN1_uc002vfb.2_Silent_p.N232N|FN1_uc002vfc.2_Silent_p.N232N|FN1_uc002vfd.2_Silent_p.N232N|FN1_uc002vfe.2_Silent_p.N232N|FN1_uc002vff.2_Silent_p.N232N|FN1_uc002vfg.2_Silent_p.N232N|FN1_uc002vfh.2_Silent_p.N232N|FN1_uc002vfi.2_Silent_p.N232N|FN1_uc002vfj.2_Silent_p.N232N|FN1_uc002vfl.2_Silent_p.N232N	p.N232N	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	6	962	-		Renal(323;0.127)	232			Fibrin- and heparin-binding 1.|Fibronectin type-I 5.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	ENST00000359671.1	37	c.696C>T																																																																																					PASS	0.468	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		41	45	41	45	---	---	---	---
FAM124B	79843	broad.mit.edu	37	2	225266253	225266253	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr2:225266253C>T	ENST00000409685.3	-	1	498	c.233G>A	c.(232-234)gGa>gAa	p.G78E	FAM124B_ENST00000389874.3_Missense_Mutation_p.G78E|FAM124B_ENST00000243806.2_Missense_Mutation_p.G78E	NM_001122779.1	NP_001116251.1	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	78								p.G78E(2)		endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		CCTATCCTCTCCCGGGCTTTC	0.562																																						uc002vnx.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(232-234)GGA>GAA		hypothetical protein LOC79843 isoform a							58.0	56.0	57.0					2																	225266253		2203	4300	6503	SO:0001583	missense	79843						protein binding	g.chr2:225266253C>T	AK075126	CCDS2461.1, CCDS46527.1	2q36.2	2008-02-05			ENSG00000124019	ENSG00000124019			26224	protein-coding gene	gene with protein product						12477932	Standard	NM_001122779		Approved	FLJ22746	uc002vnx.3	Q9H5Z6	OTTHUMG00000133168	ENST00000409685.3:c.233G>A	2.37:g.225266253C>T	ENSP00000386895:p.Gly78Glu					FAM124B_uc002vnw.2_Missense_Mutation_p.G78E	p.G78E	NM_001122779	NP_001116251	Q9H5Z6	F124B_HUMAN		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)	1	459	-		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)	78					A6NNC7|Q8NBZ4|Q8TAV7	Missense_Mutation	SNP	ENST00000409685.3	37	c.233G>A	CCDS46527.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575269	0.65878	.	.	ENSG00000124019	ENST00000389874;ENST00000409685;ENST00000243806	T;T;T	0.60548	0.18;0.18;0.18	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.79441	0.4446	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	T	0.81767	-0.0782	10	0.72032	D	0.01	-16.4786	19.5078	0.95127	0.0:1.0:0.0:0.0	.	78;78	Q9H5Z6;Q9H5Z6-2	F124B_HUMAN;.	E	78	ENSP00000374524:G78E;ENSP00000386895:G78E;ENSP00000243806:G78E	ENSP00000243806:G78E	G	-	2	0	FAM124B	224974497	1.000000	0.71417	0.046000	0.18839	0.003000	0.03518	7.445000	0.80570	2.676000	0.91093	0.655000	0.94253	GGA		PASS	0.562	FAM124B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330873.1	NM_024785		25	40	25	40	---	---	---	---
COL4A4	1286	broad.mit.edu	37	2	227895295	227895295	+	Silent	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr2:227895295G>T	ENST00000396625.3	-	41	4044	c.3837C>A	c.(3835-3837)ggC>ggA	p.G1279G	COL4A4_ENST00000329662.7_Silent_p.G1279G	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1279	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)	p.G1279G(1)		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)		TCCCAGGGAGGCCTGGAGGCC	0.552																																						uc010zlt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(3835-3837)GGC>GGA		alpha 4 type IV collagen precursor							49.0	49.0	49.0					2																	227895295		1879	4102	5981	SO:0001819	synonymous_variant	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227895295G>T		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.3837C>A	2.37:g.227895295G>T							p.G1279G	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	41	4491	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1279			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Silent	SNP	ENST00000396625.3	37	c.3837C>A	CCDS42828.1																																																																																				PASS	0.552	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		11	89	11	89	---	---	---	---
UGT1A9	54600	broad.mit.edu	37	2	234581152	234581152	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr2:234581152C>T	ENST00000354728.4	+	1	654	c.572C>T	c.(571-573)cCc>cTc	p.P191L	UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A1_ENST00000609637.1_Missense_Mutation_p.P191L|UGT1A10_ENST00000344644.5_Intron			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	191					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)	p.P191H(1)|p.P191L(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	TCCTATGTCCCCAGAATTCTC	0.483																																						uc002vus.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(1)|skin(1)	5						c.(571-573)CCC>CTC		UDP glycosyltransferase 1 family, polypeptide A9	Entacapone(DB00494)|Etodolac(DB00749)|Indomethacin(DB00328)|Irinotecan(DB00762)|Mycophenolic acid(DB01024)|Oxyphenonium(DB00219)|Propofol(DB00818)|Sorafenib(DB00398)						153.0	161.0	158.0					2																	234581152		2203	4297	6500	SO:0001583	missense	54600				drug metabolic process|flavone metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding	g.chr2:234581152C>T	AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"""UDP glucuronosyltransferases"""	12541	other	complex locus constituent		606434	"""UDP glycosyltransferase 1 family, polypeptide A9"""			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.572C>T	2.37:g.234581152C>T	ENSP00000346768:p.Pro191Leu					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Missense_Mutation_p.P191L	p.P191L	NM_021027	NP_066307	O60656	UD19_HUMAN		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	1	609	+		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)	191					B8K285|P36509|Q9HAX0	Missense_Mutation	SNP	ENST00000354728.4	37	c.572C>T	CCDS2505.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422893	0.62733	.	.	ENSG00000241119	ENST00000354728	T	0.65732	-0.17	3.41	2.52	0.30459	.	.	.	.	.	D	0.83963	0.5368	H	0.98068	4.14	0.52099	D	0.999946	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84248	0.0476	9	0.87932	D	0	.	7.7064	0.28653	0.1604:0.748:0.0:0.0915	.	191;191	Q5DSZ5;O60656	.;UD19_HUMAN	L	191	ENSP00000346768:P191L	ENSP00000346768:P191L	P	+	2	0	UGT1A9	234245891	1.000000	0.71417	0.140000	0.22221	0.215000	0.24574	7.426000	0.80270	0.762000	0.33152	0.440000	0.28878	CCC		PASS	0.483	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		33	243	33	243	---	---	---	---
NUP210	23225	broad.mit.edu	37	3	13401854	13401854	+	Silent	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr3:13401854G>A	ENST00000254508.5	-	15	2152	c.2070C>T	c.(2068-2070)atC>atT	p.I690I		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	690					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.I690I(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GAGCCAGGCCGATGCTGTCAG	0.572																																						uc003bxv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11						c.(2068-2070)ATC>ATT		nucleoporin 210 precursor							105.0	90.0	95.0					3																	13401854		2203	4300	6503	SO:0001819	synonymous_variant	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13401854G>A	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.2070C>T	3.37:g.13401854G>A						NUP210_uc003bxx.2_Silent_p.I362I	p.I690I	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN			15	2153	-	all_neural(104;0.187)		690			Lumenal (Probable).		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	ENST00000254508.5	37	c.2070C>T	CCDS33704.1																																																																																				PASS	0.572	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		10	33	10	33	---	---	---	---
ZNF620	253639	broad.mit.edu	37	3	40552985	40552985	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr3:40552985G>A	ENST00000314529.6	+	3	198	c.49G>A	c.(49-51)Gct>Act	p.A17T	ZNF620_ENST00000418905.1_Intron	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	17	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A17T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TGAGGATGTGGCTGTGTACTT	0.517																																						uc003ckk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(49-51)GCT>ACT		zinc finger protein 620							216.0	203.0	207.0					3																	40552985		2203	4300	6503	SO:0001583	missense	253639				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:40552985G>A	AK093599	CCDS33740.1, CCDS58825.1	3p21.33	2013-01-08			ENSG00000177842	ENSG00000177842		"""Zinc fingers, C2H2-type"", ""-"""	28742	protein-coding gene	gene with protein product						12477932	Standard	NM_175888		Approved	MGC50836	uc003ckk.4	Q6ZNG0	OTTHUMG00000156044	ENST00000314529.6:c.49G>A	3.37:g.40552985G>A	ENSP00000322265:p.Ala17Thr					ZNF620_uc003ckl.2_Intron	p.A17T	NM_175888	NP_787084	Q6ZNG0	ZN620_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	3	198	+			17			KRAB.		Q8N223	Missense_Mutation	SNP	ENST00000314529.6	37	c.49G>A	CCDS33740.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.433408	0.62844	.	.	ENSG00000177842	ENST00000420891;ENST00000314529	T;T	0.03065	4.06;4.06	2.39	1.5	0.22942	Krueppel-associated box (4);	.	.	.	.	T	0.04182	0.0116	L	0.42581	1.335	0.80722	D	1	B	0.21753	0.06	B	0.26202	0.067	T	0.36040	-0.9764	9	0.54805	T	0.06	.	7.4802	0.27400	0.1399:0.0:0.8601:0.0	.	17	Q6ZNG0	ZN620_HUMAN	T	17	ENSP00000406156:A17T;ENSP00000322265:A17T	ENSP00000322265:A17T	A	+	1	0	ZNF620	40527989	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	1.024000	0.30077	0.568000	0.29311	0.655000	0.94253	GCT		PASS	0.517	ZNF620-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342824.1	XM_171060		5	149	5	149	---	---	---	---
FYCO1	79443	broad.mit.edu	37	3	46010092	46010092	+	Missense_Mutation	SNP	C	C	A	rs531597999		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr3:46010092C>A	ENST00000296137.2	-	8	939	c.734G>T	c.(733-735)cGg>cTg	p.R245L	FYCO1_ENST00000535325.1_Missense_Mutation_p.R245L	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	245					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)	p.R245L(1)		NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTGCTTCTCCCGCACCTCCAA	0.577																																						uc003cpb.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(733-735)CGG>CTG		FYVE and coiled-coil domain containing 1							74.0	69.0	71.0					3																	46010092		2203	4300	6503	SO:0001583	missense	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46010092C>A	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.734G>T	3.37:g.46010092C>A	ENSP00000296137:p.Arg245Leu					FYCO1_uc011bal.1_Missense_Mutation_p.R245L	p.R245L	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	8	940	-			245			Potential.		B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	c.734G>T	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.493386	0.84962	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.24908	1.85;1.83	5.45	5.45	0.79879	.	0.057005	0.64402	D	0.000001	T	0.52175	0.1718	M	0.71581	2.175	0.37714	D	0.924688	D;D	0.89917	1.0;0.995	D;P	0.87578	0.998;0.904	T	0.58836	-0.7566	10	0.66056	D	0.02	-47.5999	17.4607	0.87619	0.0:1.0:0.0:0.0	.	245;245	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	L	245	ENSP00000296137:R245L;ENSP00000441178:R245L	ENSP00000296137:R245L	R	-	2	0	FYCO1	45985096	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.072000	0.41510	2.547000	0.85894	0.563000	0.77884	CGG		PASS	0.577	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		26	37	26	37	---	---	---	---
TRAIP	10293	broad.mit.edu	37	3	49881319	49881319	+	Missense_Mutation	SNP	C	C	T	rs186312616	byFrequency	TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr3:49881319C>T	ENST00000331456.2	-	5	436	c.323G>A	c.(322-324)cGg>cAg	p.R108Q	TRAIP_ENST00000473863.1_5'UTR|TRAIP_ENST00000469027.1_Intron	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	108					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|receptor signaling protein activity (GO:0005057)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R108Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAGCGTATCCCGCAGAGTGTC	0.562													C|||	2	0.000399361	0.0	0.0	5008	,	,		22061	0.0		0.002	False		,,,				2504	0.0					uc003cxs.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(322-324)CGG>CAG		TRAF interacting protein							227.0	172.0	190.0					3																	49881319		2203	4300	6503	SO:0001583	missense	10293				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr3:49881319C>T	BC019283	CCDS2806.1	3p21.31	2013-01-09			ENSG00000183763	ENSG00000183763		"""RING-type (C3HC4) zinc fingers"""	30764	protein-coding gene	gene with protein product	"""ring finger protein 206"""	605958				9104814	Standard	NM_005879		Approved	TRIP, RNF206	uc003cxs.1	Q9BWF2	OTTHUMG00000158269	ENST00000331456.2:c.323G>A	3.37:g.49881319C>T	ENSP00000328203:p.Arg108Gln					TRAIP_uc010hla.1_Missense_Mutation_p.R108Q|TRAIP_uc011bcx.1_Missense_Mutation_p.R108Q	p.R108Q	NM_005879	NP_005870	Q9BWF2	TRAIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	5	429	-			108			Potential.		B5BU84|B5BUL3|O00467	Missense_Mutation	SNP	ENST00000331456.2	37	c.323G>A	CCDS2806.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	C	20.4	3.984761	0.74474	.	.	ENSG00000183763	ENST00000331456;ENST00000482582;ENST00000482243	T	0.41065	1.01	5.13	5.13	0.70059	.	0.105312	0.64402	D	0.000006	T	0.60599	0.2281	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	0.987;1.0;0.994	P;D;P	0.80764	0.461;0.994;0.666	T	0.56932	-0.7897	10	0.31617	T	0.26	-15.6702	15.7448	0.77929	0.0:1.0:0.0:0.0	.	108;108;108	B4DIU1;A8K807;Q9BWF2	.;.;TRAIP_HUMAN	Q	108;92;110	ENSP00000328203:R108Q	ENSP00000328203:R108Q	R	-	2	0	TRAIP	49856323	1.000000	0.71417	0.997000	0.53966	0.209000	0.24338	5.133000	0.64764	2.386000	0.81285	0.561000	0.74099	CGG		PASS	0.562	TRAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350518.1	NM_005879		48	75	48	75	---	---	---	---
FEZF2	55079	broad.mit.edu	37	3	62357341	62357341	+	Splice_Site	SNP	A	A	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr3:62357341A>T	ENST00000283268.3	-	3	1148	c.854T>A	c.(853-855)gTg>gAg	p.V285E	FEZF2_ENST00000486811.1_Splice_Site_p.V285E|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|FEZF2_ENST00000475839.1_Splice_Site_p.V285E	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	285					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cerebral cortex GABAergic interneuron migration (GO:0021853)|dendrite development (GO:0016358)|dentate gyrus development (GO:0021542)|forebrain anterior/posterior pattern specification (GO:0021797)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.V285E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		AGCGTTAAACACCTATGGAAA	0.617																																					NSCLC(170;1772 2053 12525 15604 23984)	uc003dlh.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(853-855)GTG>GAG		FEZ family zinc finger 2							60.0	62.0	61.0					3																	62357341		2203	4300	6503	SO:0001630	splice_region_variant	55079				transcription, DNA-dependent	nucleus	zinc ion binding	g.chr3:62357341A>T	AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266		"""Zinc fingers, C2H2-type"""	13506	protein-coding gene	gene with protein product		607414	"""zinc finger protein 312"""	ZNF312			Standard	NM_018008		Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.853-1T>A	3.37:g.62357341A>T						FEZF2_uc003dli.2_Missense_Mutation_p.V285E	p.V285E	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)	2	1061	-		Lung SC(41;0.0262)	285			C2H2-type 1.		A8K349|Q9BZ91|Q9NWB9	Missense_Mutation	SNP	ENST00000283268.3	37	c.854T>A	CCDS2897.1	.	.	.	.	.	.	.	.	.	.	A	19.54	3.846190	0.71603	.	.	ENSG00000153266	ENST00000486811;ENST00000283268;ENST00000475839	T;T;T	0.07021	3.23;3.23;3.23	5.6	5.6	0.85130	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.26304	0.0642	M	0.74258	2.255	0.80722	D	1	D	0.69078	0.997	P	0.60682	0.878	T	0.00948	-1.1504	10	0.66056	D	0.02	-14.7322	14.9526	0.71086	1.0:0.0:0.0:0.0	.	285	Q8TBJ5	FEZF2_HUMAN	E	285	ENSP00000418589:V285E;ENSP00000283268:V285E;ENSP00000418804:V285E	ENSP00000283268:V285E	V	-	2	0	FEZF2	62332381	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.576000	0.82467	2.132000	0.65825	0.459000	0.35465	GTG		PASS	0.617	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351813.1	NM_018008	Missense_Mutation	16	41	16	41	---	---	---	---
CADPS	8618	broad.mit.edu	37	3	62522216	62522216	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr3:62522216G>C	ENST00000383710.4	-	12	2356	c.2007C>G	c.(2005-2007)atC>atG	p.I669M	CADPS_ENST00000357948.3_Missense_Mutation_p.I669M|CADPS_ENST00000283269.9_Missense_Mutation_p.I669M	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	669					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.I669M(2)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GGTTGGAAGAGATAAATTCAT	0.398																																						uc003dll.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(2005-2007)ATC>ATG		Ca2+-dependent secretion activator isoform 1							253.0	249.0	250.0					3																	62522216		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62522216G>C	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.2007C>G	3.37:g.62522216G>C	ENSP00000373215:p.Ile669Met					CADPS_uc003dlk.1_Missense_Mutation_p.I173M|CADPS_uc003dlm.2_Missense_Mutation_p.I669M|CADPS_uc003dln.2_Missense_Mutation_p.I669M	p.I669M	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	12	2367	-		Lung SC(41;0.0452)	669					A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.2007C>G	CCDS46858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.19|14.19	2.461129|2.461129	0.43736|0.43736	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000542833|ENST00000468271;ENST00000478434	T;T;T;T|.	0.32515|.	1.45;1.45;1.45;1.45|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77478|0.77478	0.4136|0.4136	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	P;D;D;P|.	0.71674|.	0.866;0.988;0.998;0.866|.	P;D;D;P|.	0.78314|.	0.461;0.977;0.991;0.461|.	T|T	0.75932|0.75932	-0.3143|-0.3143	10|5	0.87932|.	D|.	0|.	.|.	19.8096|19.8096	0.96541|0.96541	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	669;669;669;669|.	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4|.	.;.;CAPS1_HUMAN;.|.	M|C	669;669;669;669;168|14;100	ENSP00000373215:I669M;ENSP00000350632:I669M;ENSP00000283269:I669M;ENSP00000439528:I168M|.	ENSP00000283269:I669M|.	I|S	-|-	3|2	3|0	CADPS|CADPS	62497256|62497256	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.621000|6.621000	0.74228|0.74228	2.745000|2.745000	0.94114|0.94114	0.650000|0.650000	0.86243|0.86243	ATC|TCT		PASS	0.398	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		66	99	66	99	---	---	---	---
PDZRN3	23024	broad.mit.edu	37	3	73673863	73673863	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr3:73673863G>C	ENST00000263666.4	-	1	228	c.114C>G	c.(112-114)tgC>tgG	p.C38W	PDZRN3-AS1_ENST00000608304.1_RNA|PDZRN3-AS1_ENST00000608743.1_RNA|PDZRN3-AS1_ENST00000478988.1_RNA|PDZRN3_ENST00000308537.4_Missense_Mutation_p.C38W	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	38					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C38W(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CGCAGCCGGCGCAGAAGACGT	0.716																																						uc003dpl.1																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7						c.(112-114)TGC>TGG		PDZ domain containing ring finger 3							7.0	6.0	6.0					3																	73673863		2117	4170	6287	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73673863G>C	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.114C>G	3.37:g.73673863G>C	ENSP00000263666:p.Cys38Trp						p.C38W	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	1	210	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	38			RING-type; degenerate.		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.114C>G	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.046205	0.55110	.	.	ENSG00000121440	ENST00000263666;ENST00000416926;ENST00000308537	T;T	0.52526	0.66;0.66	4.39	-0.969	0.10310	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.54143	0.1840	H	0.97611	4.04	0.80722	D	1	B	0.14012	0.009	B	0.15870	0.014	T	0.50101	-0.8867	10	0.87932	D	0	.	2.1686	0.03844	0.2127:0.2388:0.4263:0.1222	.	38	Q9UPQ7	PZRN3_HUMAN	W	38	ENSP00000263666:C38W;ENSP00000308831:C38W	ENSP00000263666:C38W	C	-	3	2	PDZRN3	73756553	1.000000	0.71417	0.550000	0.28217	0.828000	0.46876	2.340000	0.43974	-0.317000	0.08677	0.205000	0.17691	TGC		PASS	0.716	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		3	1	3	1	---	---	---	---
ZNF654	55279	broad.mit.edu	37	3	88189750	88189750	+	Silent	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr3:88189750C>T	ENST00000309495.5	+	1	1497	c.1290C>T	c.(1288-1290)gtC>gtT	p.V430V	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	430					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V430V(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		GTGATATAGTCAATGGACACA	0.348																																						uc003dqv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1288-1290)GTC>GTT		zinc finger protein 654							77.0	77.0	77.0					3																	88189750		1876	4102	5978	SO:0001819	synonymous_variant	55279				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:88189750C>T	AF543494	CCDS46874.1	3p11.1	2005-01-10			ENSG00000175105	ENSG00000175105			25612	protein-coding gene	gene with protein product							Standard	NM_018293		Approved	FLJ10997, FLJ21142	uc003dqv.3	Q8IZM8	OTTHUMG00000159097	ENST00000309495.5:c.1290C>T	3.37:g.88189750C>T						CGGBP1_uc003dqu.2_Intron	p.V430V	NM_018293	NP_060763	Q8IZM8	ZN654_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	1	1489	+		Lung NSC(201;0.0283)	430					Q9H791|Q9NV14	Silent	SNP	ENST00000309495.5	37	c.1290C>T	CCDS46874.1																																																																																				PASS	0.348	ZNF654-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353285.2	NM_018293		17	191	17	191	---	---	---	---
ZNF654	55279	broad.mit.edu	37	3	88189791	88189791	+	Nonsense_Mutation	SNP	C	C	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr3:88189791C>G	ENST00000309495.5	+	1	1538	c.1331C>G	c.(1330-1332)tCa>tGa	p.S444*	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	444					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S444*(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TTAGTTTCATCAGATCCTGCT	0.373																																						uc003dqv.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1330-1332)TCA>TGA		zinc finger protein 654							83.0	80.0	81.0					3																	88189791		1877	4104	5981	SO:0001587	stop_gained	55279				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:88189791C>G	AF543494	CCDS46874.1	3p11.1	2005-01-10			ENSG00000175105	ENSG00000175105			25612	protein-coding gene	gene with protein product							Standard	NM_018293		Approved	FLJ10997, FLJ21142	uc003dqv.3	Q8IZM8	OTTHUMG00000159097	ENST00000309495.5:c.1331C>G	3.37:g.88189791C>G	ENSP00000312141:p.Ser444*					CGGBP1_uc003dqu.2_Intron	p.S444*	NM_018293	NP_060763	Q8IZM8	ZN654_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	1	1530	+		Lung NSC(201;0.0283)	444					Q9H791|Q9NV14	Nonsense_Mutation	SNP	ENST00000309495.5	37	c.1331C>G	CCDS46874.1	.	.	.	.	.	.	.	.	.	.	c	24.2	4.507893	0.85282	.	.	ENSG00000175105	ENST00000309495	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	11.2873	0.49228	0.0:0.9163:0.0:0.0837	.	.	.	.	X	444	.	ENSP00000312141:S444X	S	+	2	0	ZNF654	88272481	0.742000	0.28228	0.997000	0.53966	0.536000	0.34869	1.766000	0.38491	2.421000	0.82119	0.574000	0.79327	TCA		PASS	0.373	ZNF654-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353285.2	NM_018293		16	196	16	196	---	---	---	---
ZNF654	55279	broad.mit.edu	37	3	88189815	88189815	+	Missense_Mutation	SNP	C	C	G	rs377604926		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr3:88189815C>G	ENST00000309495.5	+	1	1562	c.1355C>G	c.(1354-1356)aCa>aGa	p.T452R	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T452R(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AAAATTGATACAAACAGAATC	0.378																																						uc003dqv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1354-1356)ACA>AGA		zinc finger protein 654							88.0	85.0	86.0					3																	88189815		1882	4104	5986	SO:0001583	missense	55279				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:88189815C>G	AF543494	CCDS46874.1	3p11.1	2005-01-10			ENSG00000175105	ENSG00000175105			25612	protein-coding gene	gene with protein product							Standard	NM_018293		Approved	FLJ10997, FLJ21142	uc003dqv.3	Q8IZM8	OTTHUMG00000159097	ENST00000309495.5:c.1355C>G	3.37:g.88189815C>G	ENSP00000312141:p.Thr452Arg					CGGBP1_uc003dqu.2_Intron	p.T452R	NM_018293	NP_060763	Q8IZM8	ZN654_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	1	1554	+		Lung NSC(201;0.0283)	452					Q9H791|Q9NV14	Missense_Mutation	SNP	ENST00000309495.5	37	c.1355C>G	CCDS46874.1	.	.	.	.	.	.	.	.	.	.	c	1.289	-0.608253	0.03717	.	.	ENSG00000175105	ENST00000309495	T	0.11063	2.81	5.23	3.39	0.38822	.	.	.	.	.	T	0.07458	0.0188	N	0.19112	0.55	0.20489	N	0.999897	B	0.25719	0.132	B	0.24006	0.05	T	0.33214	-0.9877	9	0.62326	D	0.03	.	6.94	0.24488	0.1414:0.6995:0.0:0.159	.	452	Q8IZM8	ZN654_HUMAN	R	452	ENSP00000312141:T452R	ENSP00000312141:T452R	T	+	2	0	ZNF654	88272505	0.590000	0.26815	0.998000	0.56505	0.272000	0.26649	0.820000	0.27323	0.542000	0.28846	0.574000	0.79327	ACA		PASS	0.378	ZNF654-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353285.2	NM_018293		20	202	20	202	---	---	---	---
NSUN3	63899	broad.mit.edu	37	3	93803157	93803158	+	Missense_Mutation	DNP	TG	TG	AA			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr3:93803157_93803158TG>AA	ENST00000314622.4	+	3	540_541	c.329_330TG>AA	c.(328-330)cTG>cAA	p.L110Q		NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	110							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)	p.L110Q(2)|p.L110L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						ATTGGAAACCTGAAAAAATATT	0.46																																						uc003drl.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	skin(1)	1						c.(328-330)CTG>CAG|c.(328-330)CTG>CTA		NOL1/NOP2/Sun domain family, member 3																																				SO:0001583	missense	63899						methyltransferase activity	g.chr3:93803157T>A|g.chr3:93803158G>A	BC020602	CCDS2927.1	3q11.2	2009-11-23	2009-11-23		ENSG00000178694	ENSG00000178694		"""NOP2/Sun domain containing"""	26208	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 3"", ""NOL1/NOP2/Sun domain family, member 3"""			12477932	Standard	NM_022072		Approved	FLJ22609	uc003drl.1	Q9H649	OTTHUMG00000159025	Exception_encountered	3.37:g.93803157_93803158delinsAA	ENSP00000318986:p.Leu110Gln						p.L110Q|p.L110L	NM_022072	NP_071355	Q9H649	NSUN3_HUMAN			3	445|446	+			110					Q6PG41|Q8IXG9|Q9H6M2	Missense_Mutation|Silent	SNP	ENST00000314622.4	37	c.329T>A|c.330G>A	CCDS2927.1																																																																																				PASS	0.460	NSUN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352934.1	NM_022072		32	206|209	32	206	---	---	---	---
OR5H15	403274	broad.mit.edu	37	3	97887807	97887807	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr3:97887807G>T	ENST00000356526.2	+	1	264	c.264G>T	c.(262-264)aaG>aaT	p.K88N		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K88N(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TCTTAGCTAAGAGTAAGATGA	0.378																																						uc011bgu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(262-264)AAG>AAT		olfactory receptor, family 5, subfamily H,							107.0	107.0	107.0					3																	97887807		2203	4298	6501	SO:0001583	missense	403274				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97887807G>T		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.264G>T	3.37:g.97887807G>T	ENSP00000373195:p.Lys88Asn						p.K88N	NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN			1	264	+			88			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000356526.2	37	c.264G>T	CCDS33799.1	.	.	.	.	.	.	.	.	.	.	-	0.426	-0.905962	0.02453	.	.	ENSG00000233412	ENST00000356526;ENST00000454529	T	0.03004	4.08	2.48	1.57	0.23409	GPCR, rhodopsin-like superfamily (1);	0.135551	0.33515	N	0.004830	T	0.02610	0.0079	L	0.31526	0.94	0.09310	N	1	B	0.18166	0.026	B	0.15484	0.013	T	0.39522	-0.9610	10	0.46703	T	0.11	.	3.8439	0.08926	0.3392:0.0:0.6608:0.0	.	88	A6NDH6	O5H15_HUMAN	N	88	ENSP00000373195:K88N	ENSP00000373195:K88N	K	+	3	2	OR5H15	99370497	0.000000	0.05858	0.078000	0.20375	0.047000	0.14425	-1.047000	0.03521	1.386000	0.46466	0.184000	0.17185	AAG		PASS	0.378	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			61	206	61	206	---	---	---	---
DZIP3	9666	broad.mit.edu	37	3	108391468	108391468	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr3:108391468C>A	ENST00000361582.3	+	23	2784	c.2554C>A	c.(2554-2556)Ctg>Atg	p.L852M	DZIP3_ENST00000463306.1_Missense_Mutation_p.L852M	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	852					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L852M(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CGTAAGCAAACTGAACGCAGA	0.398																																						uc003dxd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2554-2556)CTG>ATG		DAZ interacting protein 3, zinc finger							100.0	94.0	96.0					3																	108391468		2203	4299	6502	SO:0001583	missense	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108391468C>A	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2554C>A	3.37:g.108391468C>A	ENSP00000355028:p.Leu852Met					DZIP3_uc003dxf.1_Missense_Mutation_p.L852M|DZIP3_uc011bhm.1_Missense_Mutation_p.L303M	p.L852M	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN			23	2976	+			852			Potential.		B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.2554C>A	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971816	0.53614	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	D;D	0.84516	-1.86;-1.86	4.48	3.6	0.41247	.	0.000000	0.40818	N	0.001016	D	0.88179	0.6367	L	0.50333	1.59	0.25776	N	0.984785	D;D	0.76494	0.998;0.999	D;D	0.80764	0.994;0.991	T	0.79555	-0.1755	10	0.72032	D	0.01	-5.8748	8.4083	0.32627	0.0:0.8921:0.0:0.1079	.	470;852	D3DN61;Q86Y13	.;DZIP3_HUMAN	M	852	ENSP00000355028:L852M;ENSP00000419981:L852M	ENSP00000355028:L852M	L	+	1	2	DZIP3	109874158	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	0.700000	0.25601	1.226000	0.43582	0.655000	0.94253	CTG		PASS	0.398	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		24	82	24	82	---	---	---	---
CD96	10225	broad.mit.edu	37	3	111319669	111319669	+	Nonsense_Mutation	SNP	C	C	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr3:111319669C>G	ENST00000283285.5	+	8	1174	c.1043C>G	c.(1042-1044)tCa>tGa	p.S348*	CD96_ENST00000352690.4_Nonsense_Mutation_p.S332*|CD96_ENST00000438817.2_Nonsense_Mutation_p.S332*	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	348	Ig-like C2-type.				cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.S348*(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						CCAGCCCAATCAGACAACTTG	0.383									Opitz Trigonocephaly syndrome																													uc003dxw.2																			1	Substitution - Nonsense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(1042-1044)TCA>TGA		CD96 antigen isoform 1 precursor							115.0	115.0	115.0					3																	111319669		2203	4300	6503	SO:0001587	stop_gained	10225	Opitz_Trigonocephaly_syndrome	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	cell adhesion|immune response|regulation of immune response	integral to plasma membrane		g.chr3:111319669C>G	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16892	protein-coding gene	gene with protein product		606037	"""CD96 antigen"""			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.1043C>G	3.37:g.111319669C>G	ENSP00000283285:p.Ser348*					CD96_uc003dxv.2_Nonsense_Mutation_p.S332*|CD96_uc003dxx.2_Nonsense_Mutation_p.S332*|CD96_uc010hpy.1_Nonsense_Mutation_p.S332*	p.S348*	NM_198196	NP_937839	P40200	TACT_HUMAN			8	1213	+			348			Extracellular (Potential).|Ig-like C2-type.		Q5JPB3	Nonsense_Mutation	SNP	ENST00000283285.5	37	c.1043C>G	CCDS2959.1	.	.	.	.	.	.	.	.	.	.	C	35	5.570636	0.96540	.	.	ENSG00000153283	ENST00000352690;ENST00000283285;ENST00000438817	.	.	.	5.04	4.16	0.48862	.	0.537042	0.16636	N	0.205863	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-4.0369	9.8082	0.40805	0.0:0.903:0.0:0.097	.	.	.	.	X	332;348;332	.	ENSP00000283285:S348X	S	+	2	0	CD96	112802359	0.000000	0.05858	0.873000	0.34254	0.873000	0.50193	0.788000	0.26872	1.251000	0.43983	0.650000	0.86243	TCA		PASS	0.383	CD96-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354312.2			25	145	25	145	---	---	---	---
SEMA5B	54437	broad.mit.edu	37	3	122632465	122632465	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr3:122632465G>T	ENST00000357599.3	-	16	2582	c.2196C>A	c.(2194-2196)agC>agA	p.S732R	SEMA5B_ENST00000195173.4_Missense_Mutation_p.S732R|SEMA5B_ENST00000451055.2_Missense_Mutation_p.S786R	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	732	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.S732R(1)|p.S786R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TGCTGCACTTGCTCCAGGAGC	0.677																																						uc003efz.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7						c.(2194-2196)AGC>AGA		semaphorin 5B isoform 1							19.0	21.0	20.0					3																	122632465		2202	4298	6500	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122632465G>T	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.2196C>A	3.37:g.122632465G>T	ENSP00000350215:p.Ser732Arg					SEMA5B_uc011bju.1_Missense_Mutation_p.S674R|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.S732R|SEMA5B_uc010hro.1_Missense_Mutation_p.S674R|SEMA5B_uc003efy.1_5'Flank	p.S732R	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	16	2500	-			732			Extracellular (Potential).|TSP type-1 2.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.2196C>A	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.229107	0.58777	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	4.86	3.99	0.46301	.	0.382752	0.31177	N	0.008113	T	0.72095	0.3418	M	0.89785	3.06	0.42745	D	0.993759	P;B;B	0.37824	0.609;0.254;0.254	B;P;P	0.46975	0.326;0.533;0.456	T	0.74621	-0.3604	10	0.62326	D	0.03	.	6.1654	0.20388	0.2887:0.0:0.7113:0.0	.	674;732;732	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	R	732;732;674;786;732	ENSP00000350215:S732R;ENSP00000195173:S732R;ENSP00000389588:S786R;ENSP00000377208:S732R	ENSP00000195173:S732R	S	-	3	2	SEMA5B	124115155	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.955000	0.40372	1.269000	0.44280	0.561000	0.74099	AGC		PASS	0.677	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		10	31	10	31	---	---	---	---
MYLK	4638	broad.mit.edu	37	3	123452795	123452795	+	Missense_Mutation	SNP	C	C	G	rs532659627		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr3:123452795C>G	ENST00000475616.1	-	7	1047	c.1048G>C	c.(1048-1050)Gca>Cca	p.A350P	MYLK_ENST00000360304.3_Missense_Mutation_p.A350P|MYLK_ENST00000346322.5_Missense_Mutation_p.A350P|MYLK_ENST00000360772.3_Missense_Mutation_p.A350P|MYLK_ENST00000359169.1_Missense_Mutation_p.A350P			Q15746	MYLK_HUMAN	myosin light chain kinase	350					actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.A350T(1)|p.A350P(1)|p.A350S(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGAACTCTTGCGGCCTGCAGG	0.632																																						uc003ego.2																			3	Substitution - Missense(3)		lung(3)	ovary(6)|skin(2)|stomach(1)	9						c.(1048-1050)GCA>CCA		myosin light chain kinase isoform 1							72.0	79.0	76.0					3																	123452795		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123452795C>G	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.1048G>C	3.37:g.123452795C>G	ENSP00000418335:p.Ala350Pro					MYLK_uc011bjw.1_Missense_Mutation_p.A350P|MYLK_uc003egp.2_Missense_Mutation_p.A350P|MYLK_uc003egq.2_Missense_Mutation_p.A350P|MYLK_uc003egr.2_Missense_Mutation_p.A350P|MYLK_uc003egs.2_Missense_Mutation_p.A174P	p.A350P	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	10	1330	-		Lung NSC(201;0.0496)	350					B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.1048G>C	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951840	0.53293	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.67523	-0.27;-0.22;-0.27;-0.15;-0.22	5.43	-7.78	0.01223	.	.	.	.	.	T	0.52757	0.1754	L	0.27053	0.805	0.09310	N	0.999999	D;B;D;B;P	0.57571	0.98;0.001;0.98;0.001;0.782	P;B;P;B;B	0.53062	0.606;0.002;0.717;0.002;0.289	T	0.50608	-0.8808	9	0.30078	T	0.28	.	4.3246	0.11034	0.1071:0.2038:0.1012:0.5879	.	350;350;350;350;350	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	P	350	ENSP00000354004:A350P;ENSP00000353452:A350P;ENSP00000352088:A350P;ENSP00000320622:A350P;ENSP00000418335:A350P	ENSP00000320622:A350P	A	-	1	0	MYLK	124935485	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.939000	0.03933	-1.950000	0.01030	-0.844000	0.03045	GCA		PASS	0.632	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		59	217	59	217	---	---	---	---
SLCO2A1	6578	broad.mit.edu	37	3	133692604	133692604	+	Silent	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr3:133692604C>A	ENST00000310926.4	-	3	573	c.300G>T	c.(298-300)ctG>ctT	p.L100L	SLCO2A1_ENST00000478651.1_5'UTR|SLCO2A1_ENST00000493729.1_Silent_p.L100L	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	100					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)	p.L100L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	CGATGCCAATCAGACGTGGAC	0.567																																						uc003eqa.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(298-300)CTG>CTT		solute carrier organic anion transporter family,							98.0	84.0	89.0					3																	133692604		2203	4300	6503	SO:0001819	synonymous_variant	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133692604C>A		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.300G>T	3.37:g.133692604C>A						SLCO2A1_uc003eqb.3_Silent_p.L100L|SLCO2A1_uc011blv.1_Silent_p.L100L|SLCO2A1_uc010htw.1_5'UTR	p.L100L	NM_005630	NP_005621	Q92959	SO2A1_HUMAN			3	574	-			100			Helical; Name=3; (Potential).		Q86V98|Q8IUN2	Silent	SNP	ENST00000310926.4	37	c.300G>T	CCDS3084.1																																																																																				PASS	0.567	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		7	39	7	39	---	---	---	---
TRIM42	287015	broad.mit.edu	37	3	140401468	140401468	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr3:140401468G>A	ENST00000286349.3	+	2	697	c.506G>A	c.(505-507)tGc>tAc	p.C169Y		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	169						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.C169Y(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TGCGAGAAGTGCCTGCGGCAG	0.607																																						uc003eto.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						c.(505-507)TGC>TAC		tripartite motif-containing 42							107.0	98.0	101.0					3																	140401468		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140401468G>A	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.506G>A	3.37:g.140401468G>A	ENSP00000286349:p.Cys169Tyr						p.C169Y	NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN			2	697	+			169			RING-type.		A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.506G>A	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.519954	0.64634	.	.	ENSG00000155890	ENST00000286349	D	0.88431	-2.38	5.22	5.22	0.72569	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);	0.100294	0.44902	D	0.000415	D	0.94637	0.8271	M	0.85945	2.785	0.42224	D	0.991863	D	0.89917	1.0	D	0.87578	0.998	D	0.95381	0.8473	10	0.87932	D	0	-14.7913	14.2818	0.66219	0.0:0.0:1.0:0.0	.	169	Q8IWZ5	TRI42_HUMAN	Y	169	ENSP00000286349:C169Y	ENSP00000286349:C169Y	C	+	2	0	TRIM42	141884158	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	4.231000	0.58639	2.443000	0.82685	0.561000	0.74099	TGC		PASS	0.607	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		28	113	28	113	---	---	---	---
ATR	545	broad.mit.edu	37	3	142188344	142188344	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr3:142188344A>T	ENST00000350721.4	-	38	6508	c.6387T>A	c.(6385-6387)caT>caA	p.H2129Q	ATR_ENST00000383101.3_Missense_Mutation_p.H2065Q|RP11-383G6.3_ENST00000460977.1_RNA	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2129	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.H2129Q(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AATAGTTTGTATGCTCTGTGA	0.348								Other conserved DNA damage response genes																														uc003eux.3																			1	Substitution - Missense(1)		lung(1)	lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(6385-6387)CAT>CAA	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							129.0	141.0	137.0					3																	142188344		2202	4299	6501	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142188344A>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.6387T>A	3.37:g.142188344A>T	ENSP00000343741:p.His2129Gln					ATR_uc003euy.1_Missense_Mutation_p.H15Q	p.H2129Q	NM_001184	NP_001175	Q13535	ATR_HUMAN			38	6509	-			2129			FAT.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.6387T>A	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.966307	0.34659	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.04083	3.71;3.97	5.15	4.26	0.50523	PIK-related kinase (1);	0.101246	0.64402	D	0.000002	T	0.07007	0.0178	L	0.51422	1.61	0.80722	D	1	D	0.57571	0.98	P	0.47299	0.543	T	0.42430	-0.9452	10	0.29301	T	0.29	-3.7376	7.9647	0.30091	0.2536:0.0:0.7464:0.0	.	2129	Q13535	ATR_HUMAN	Q	2129;2065	ENSP00000343741:H2129Q;ENSP00000372581:H2065Q	ENSP00000343741:H2129Q	H	-	3	2	ATR	143671034	1.000000	0.71417	0.998000	0.56505	0.255000	0.26057	2.504000	0.45416	1.122000	0.41944	-0.462000	0.05337	CAT		PASS	0.348	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		85	92	85	92	---	---	---	---
CPB1	1360	broad.mit.edu	37	3	148562331	148562331	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr3:148562331C>A	ENST00000491148.1	+	8	977	c.643C>A	c.(643-645)Ctg>Atg	p.L215M	CPB1_ENST00000282957.4_Missense_Mutation_p.L215M			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	215						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.L215M(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CTTTTATGTCCTGCCTGTGCT	0.423																																						uc003ewl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(643-645)CTG>ATG		pancreatic carboxypeptidase B1 preproprotein							106.0	89.0	95.0					3																	148562331		2203	4300	6503	SO:0001583	missense	1360				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148562331C>A	AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.643C>A	3.37:g.148562331C>A	ENSP00000417222:p.Leu215Met						p.L215M	NM_001871	NP_001862	P15086	CBPB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		7	666	+			215					O60834|Q53XJ0|Q96BQ8	Missense_Mutation	SNP	ENST00000491148.1	37	c.643C>A	CCDS33874.1	.	.	.	.	.	.	.	.	.	.	C	5.030	0.191132	0.09547	.	.	ENSG00000153002	ENST00000491148;ENST00000282957;ENST00000468341	T;T;T	0.12255	2.7;2.7;2.7	5.78	2.75	0.32379	Peptidase M14, carboxypeptidase A (2);	0.220796	0.39615	N	0.001310	T	0.18002	0.0432	L	0.38175	1.15	0.58432	D	0.999998	D	0.63046	0.992	D	0.72625	0.978	T	0.37174	-0.9717	10	0.10111	T	0.7	.	4.5572	0.12141	0.0:0.3483:0.2999:0.3518	.	215	P15086	CBPB1_HUMAN	M	215;215;181	ENSP00000417222:L215M;ENSP00000282957:L215M;ENSP00000419427:L181M	ENSP00000282957:L215M	L	+	1	2	CPB1	150045021	0.996000	0.38824	0.991000	0.47740	0.250000	0.25880	1.610000	0.36869	0.245000	0.21373	0.655000	0.94253	CTG		PASS	0.423	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	NM_001871		26	94	26	94	---	---	---	---
OTOL1	131149	broad.mit.edu	37	3	161220152	161220152	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr3:161220152C>A	ENST00000327928.4	+	3	512	c.512C>A	c.(511-513)gCa>gAa	p.A171E		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	171	Collagen-like 1.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)		p.A171E(1)		central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						AAACCGGGAGCACAAGGTAGA	0.423																																						uc011bpb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(511-513)GCA>GAA		otolin-1 precursor							57.0	57.0	57.0					3																	161220152		1919	4136	6055	SO:0001583	missense	131149					collagen		g.chr3:161220152C>A		CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 15"""		"""otolin 1 homolog (zebrafish)"""			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.512C>A	3.37:g.161220152C>A	ENSP00000330808:p.Ala171Glu						p.A171E	NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN			3	512	+			171			Collagen-like 1.			Missense_Mutation	SNP	ENST00000327928.4	37	c.512C>A	CCDS46948.1	.	.	.	.	.	.	.	.	.	.	C	8.619	0.890907	0.17613	.	.	ENSG00000182447	ENST00000327928	D	0.93426	-3.22	4.84	2.42	0.29668	.	0.217381	0.45361	N	0.000374	T	0.73908	0.3647	N	0.01289	-0.905	0.22266	N	0.999241	B	0.02656	0.0	B	0.01281	0.0	T	0.65429	-0.6170	10	0.02654	T	1	.	5.4688	0.16658	0.6428:0.1912:0.0:0.166	.	171	A6NHN0	OTOL1_HUMAN	E	171	ENSP00000330808:A171E	ENSP00000330808:A171E	A	+	2	0	OTOL1	162702846	1.000000	0.71417	0.998000	0.56505	0.934000	0.57294	1.243000	0.32767	0.205000	0.20568	-0.457000	0.05445	GCA		PASS	0.423	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353184.1	NM_001080440		27	34	27	34	---	---	---	---
SI	6476	broad.mit.edu	37	3	164712177	164712177	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr3:164712177G>T	ENST00000264382.3	-	41	4771	c.4709C>A	c.(4708-4710)tCc>tAc	p.S1570Y		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1570	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.S1570Y(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TTCATTCCAGGAAGCGGGATC	0.299										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(4708-4710)TCC>TAC		sucrase-isomaltase	Acarbose(DB00284)						94.0	100.0	98.0					3																	164712177		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164712177G>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4709C>A	3.37:g.164712177G>T	ENSP00000264382:p.Ser1570Tyr	HNSCC(35;0.089)					p.S1570Y	NM_001041	NP_001032	P14410	SUIS_HUMAN			41	4771	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1570			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.4709C>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.830569	0.71258	.	.	ENSG00000090402	ENST00000264382	D	0.91740	-2.9	5.2	5.2	0.72013	Glycoside hydrolase, superfamily (1);	0.246531	0.42053	D	0.000778	D	0.95478	0.8531	M	0.76433	2.335	0.42751	D	0.99377	D	0.89917	1.0	D	0.78314	0.991	D	0.95516	0.8590	10	0.87932	D	0	.	14.5549	0.68094	0.0:0.1462:0.8538:0.0	.	1570	P14410	SUIS_HUMAN	Y	1570	ENSP00000264382:S1570Y	ENSP00000264382:S1570Y	S	-	2	0	SI	166194871	0.997000	0.39634	0.912000	0.35992	0.943000	0.58893	7.353000	0.79414	2.876000	0.98609	0.644000	0.83932	TCC		PASS	0.299	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		99	132	99	132	---	---	---	---
ZBBX	79740	broad.mit.edu	37	3	167016230	167016230	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr3:167016230G>T	ENST00000392766.2	-	18	2082	c.1742C>A	c.(1741-1743)gCc>gAc	p.A581D	ZBBX_ENST00000392764.1_Missense_Mutation_p.A552D|ZBBX_ENST00000455345.2_Missense_Mutation_p.A581D|ZBBX_ENST00000307529.5_Missense_Mutation_p.A581D|ZBBX_ENST00000392767.2_Missense_Mutation_p.A581D	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	581						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.A581D(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						ACTTCTGCAGGCTATTTCTTG	0.289																																						uc003fep.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1741-1743)GCC>GAC		zinc finger, B-box domain containing							120.0	119.0	119.0					3																	167016230		1813	4065	5878	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167016230G>T	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1742C>A	3.37:g.167016230G>T	ENSP00000376519:p.Ala581Asp					ZBBX_uc011bpc.1_Missense_Mutation_p.A581D|ZBBX_uc003feq.2_Missense_Mutation_p.A552D	p.A581D	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN			18	2065	-			581					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.1742C>A	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	G	14.55	2.569683	0.45798	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.21031	2.22;2.22;2.11;2.11;2.03	4.9	4.9	0.64082	.	0.258257	0.33670	N	0.004661	T	0.40423	0.1116	L	0.54323	1.7	0.29141	N	0.878984	D;D	0.76494	0.999;0.999	D;D	0.71184	0.972;0.938	T	0.24154	-1.0168	10	0.87932	D	0	-1.6559	13.9234	0.63948	0.0:0.0:1.0:0.0	.	581;581	A8MT70-2;A8MT70	.;ZBBX_HUMAN	D	581;581;581;581;552	ENSP00000376519:A581D;ENSP00000376520:A581D;ENSP00000390232:A581D;ENSP00000305065:A581D;ENSP00000376517:A552D	ENSP00000305065:A581D	A	-	2	0	ZBBX	168498924	1.000000	0.71417	1.000000	0.80357	0.242000	0.25591	3.235000	0.51328	2.416000	0.81992	0.591000	0.81541	GCC		PASS	0.289	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		43	247	43	247	---	---	---	---
ACTRT3	84517	broad.mit.edu	37	3	169482446	169482446	+	IGR	SNP	G	G	T	rs199422282		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr3:169482446G>T	ENST00000330368.2	-	0	2005				TERC_ENST00000602385.1_lincRNA	NM_032487.4	NP_115876.3	Q9BYD9	ACTT3_HUMAN	actin-related protein T3							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)											TCAGGGAATCGCGCCGCGCGC	0.677																																						uc003ffr.1																			0					0								Homo sapiens cDNA clone IMAGE:40002477.							24.0	24.0	24.0					3																	169482446		876	1991	2867	SO:0001628	intergenic_variant	7012	Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic						g.chr3:169482446G>T	AK055346	CCDS3206.1	3q26.2	2012-04-10			ENSG00000184378	ENSG00000184378			24022	protein-coding gene	gene with protein product	"""actin related protein M1"""	608534				11750065, 18692047	Standard	NM_032487		Approved	ARPM1	uc003ffs.2	Q9BYD9			3.37:g.169482446G>T								NR_001566						1		-								Q96IS0|Q96NJ0	RNA	SNP	ENST00000330368.2	37	c.403C>A	CCDS3206.1																																																																																				PASS	0.677	ACTRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467797.1	NM_032487		14	63	14	63	---	---	---	---
ACTRT3	84517	broad.mit.edu	37	3	169485281	169485281	+	Nonsense_Mutation	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr3:169485281C>T	ENST00000330368.2	-	2	1432	c.1058G>A	c.(1057-1059)tGg>tAg	p.W353*	TERC_ENST00000602385.1_lincRNA|RP11-816J6.3_ENST00000602879.1_RNA	NM_032487.4	NP_115876.3	Q9BYD9	ACTT3_HUMAN	actin-related protein T3	353						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)		p.W353*(1)									AGCAGTGATCCACATGTCCTG	0.418																																						uc003ffs.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1057-1059)TGG>TAG		actin related protein M1							92.0	92.0	92.0					3																	169485281		2203	4300	6503	SO:0001587	stop_gained	84517					cytoplasm|cytoskeleton		g.chr3:169485281C>T	AK055346	CCDS3206.1	3q26.2	2012-04-10			ENSG00000184378	ENSG00000184378			24022	protein-coding gene	gene with protein product	"""actin related protein M1"""	608534				11750065, 18692047	Standard	NM_032487		Approved	ARPM1	uc003ffs.2	Q9BYD9		ENST00000330368.2:c.1058G>A	3.37:g.169485281C>T	ENSP00000333037:p.Trp353*					TERC_uc003ffr.1_5'Flank	p.W353*	NM_032487	NP_115876	Q9BYD9	ARPM1_HUMAN	Epithelial(2;4.03e-64)|all cancers(2;5.01e-59)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)		2	1433	-	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		353					Q96IS0|Q96NJ0	Nonsense_Mutation	SNP	ENST00000330368.2	37	c.1058G>A	CCDS3206.1	.	.	.	.	.	.	.	.	.	.	C	39	7.688440	0.98434	.	.	ENSG00000184378	ENST00000330368	.	.	.	5.03	5.03	0.67393	.	0.000000	0.47852	D	0.000207	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.285	0.87139	0.0:1.0:0.0:0.0	.	.	.	.	X	353	.	ENSP00000333037:W353X	W	-	2	0	AC078802.1	170967975	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.319000	0.59197	2.627000	0.88993	0.561000	0.74099	TGG		PASS	0.418	ACTRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467797.1	NM_032487		9	171	9	171	---	---	---	---
FNDC3B	64778	broad.mit.edu	37	3	171965446	171965446	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr3:171965446C>T	ENST00000336824.4	+	5	487	c.388C>T	c.(388-390)Cat>Tat	p.H130Y	FNDC3B_ENST00000416957.1_Missense_Mutation_p.H130Y|FNDC3B_ENST00000415807.2_Missense_Mutation_p.H130Y	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	130					cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)	p.H130Y(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TCTGACTCACCATCCACATTT	0.542																																						uc003fhy.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(388-390)CAT>TAT		fibronectin type III domain containing 3B							248.0	210.0	223.0					3																	171965446		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:171965446C>T	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.388C>T	3.37:g.171965446C>T	ENSP00000338523:p.His130Tyr					FNDC3B_uc003fhz.3_Missense_Mutation_p.H130Y|FNDC3B_uc003fia.2_Missense_Mutation_p.H61Y	p.H130Y	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	5	560	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		130					B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.388C>T	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.745638	0.30955	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957;ENST00000443501	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000001	T	0.45276	0.1334	M	0.61703	1.905	0.80722	D	1	D;B	0.58620	0.983;0.212	P;B	0.51582	0.674;0.058	T	0.38866	-0.9641	10	0.02654	T	1	-24.3725	19.8805	0.96895	0.0:1.0:0.0:0.0	.	130;130	Q53EP0-2;Q53EP0	.;FND3B_HUMAN	Y	130;130;130;103	ENSP00000411242:H130Y;ENSP00000338523:H130Y;ENSP00000389094:H130Y;ENSP00000389064:H103Y	ENSP00000338523:H130Y	H	+	1	0	FNDC3B	173448140	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.219000	0.78000	2.704000	0.92352	0.655000	0.94253	CAT		PASS	0.542	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		291	190	291	190	---	---	---	---
MFN1	55669	broad.mit.edu	37	3	179096548	179096548	+	Silent	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr3:179096548G>A	ENST00000471841.1	+	14	1734	c.1608G>A	c.(1606-1608)ttG>ttA	p.L536L	MFN1_ENST00000263969.5_Silent_p.L536L|MFN1_ENST00000280653.7_Intron	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	536					mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.L536L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			ATCGATTTTTGGGCCCTAGAA	0.363																																						uc003fjs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1606-1608)TTG>TTA		mitofusin 1							97.0	98.0	98.0					3																	179096548		2203	4300	6503	SO:0001819	synonymous_variant	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179096548G>A	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.1608G>A	3.37:g.179096548G>A						MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Silent_p.L564L|MFN1_uc010hxc.2_Intron	p.L536L	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		14	1734	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		536			Cytoplasmic (Potential).		B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Silent	SNP	ENST00000471841.1	37	c.1608G>A	CCDS3228.1																																																																																				PASS	0.363	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		13	207	13	207	---	---	---	---
FETUB	26998	broad.mit.edu	37	3	186370293	186370293	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr3:186370293T>A	ENST00000265029.3	+	7	1123	c.1022T>A	c.(1021-1023)aTt>aAt	p.I341N	FETUB_ENST00000450521.1_Missense_Mutation_p.I341N|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000382134.3_Missense_Mutation_p.I276N|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000539949.1_Missense_Mutation_p.I193N|FETUB_ENST00000382136.3_Missense_Mutation_p.I304N	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	341					binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)	p.I341N(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		ACCCTGGATATTTCCTTCCTC	0.542																																						uc010hyq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1021-1023)ATT>AAT		fetuin B precursor							74.0	82.0	79.0					3																	186370293		2203	4300	6503	SO:0001583	missense	26998					extracellular space	cysteine-type endopeptidase inhibitor activity	g.chr3:186370293T>A	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.1022T>A	3.37:g.186370293T>A	ENSP00000265029:p.Ile341Asn					FETUB_uc011brz.1_Missense_Mutation_p.I193N|FETUB_uc003fqn.2_Missense_Mutation_p.I341N|FETUB_uc003fqo.2_Missense_Mutation_p.I236N|FETUB_uc010hyr.2_Missense_Mutation_p.I304N|FETUB_uc010hys.2_Missense_Mutation_p.I193N|FETUB_uc003fqp.3_Missense_Mutation_p.I276N	p.I341N	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	8	1283	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		341					B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Missense_Mutation	SNP	ENST00000265029.3	37	c.1022T>A	CCDS3279.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.597619	0.46318	.	.	ENSG00000090512	ENST00000450521;ENST00000539949;ENST00000265029;ENST00000382134;ENST00000382136	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	4.72	4.72	0.59763	.	1.055260	0.07427	N	0.895116	T	0.26882	0.0658	N	0.08118	0	0.23449	N	0.997656	P;B;P	0.35923	0.468;0.257;0.528	B;B;B	0.33690	0.168;0.046;0.157	T	0.16571	-1.0398	10	0.87932	D	0	-7.4832	10.7886	0.46419	0.0:0.0:0.0:1.0	.	304;276;341	E9PG06;E9PG08;Q9UGM5	.;.;FETUB_HUMAN	N	341;193;341;276;304	ENSP00000404288:I341N;ENSP00000443704:I193N;ENSP00000265029:I341N;ENSP00000371569:I276N;ENSP00000371571:I304N	ENSP00000265029:I341N	I	+	2	0	FETUB	187852987	0.004000	0.15560	0.738000	0.30950	0.839000	0.47603	0.717000	0.25851	2.119000	0.64992	0.533000	0.62120	ATT		PASS	0.542	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375		47	268	47	268	---	---	---	---
HRG	3273	broad.mit.edu	37	3	186383826	186383826	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr3:186383826G>T	ENST00000232003.4	+	1	86	c.6G>T	c.(4-6)aaG>aaT	p.K2N	HRG_ENST00000468154.1_Intron|RP11-134F2.2_ENST00000455926.1_RNA|RP11-134F2.2_ENST00000428501.1_RNA	NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	2					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.K2N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		ACAAAATGAAGGCACTCATTG	0.443																																						uc003fqq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(4-6)AAG>AAT		histidine-rich glycoprotein precursor							97.0	83.0	88.0					3																	186383826		2203	4300	6503	SO:0001583	missense	3273				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding	g.chr3:186383826G>T		CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.6G>T	3.37:g.186383826G>T	ENSP00000232003:p.Lys2Asn						p.K2N	NM_000412	NP_000403	P04196	HRG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)	1	29	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		2					B9EK35|D3DNU7	Missense_Mutation	SNP	ENST00000232003.4	37	c.6G>T	CCDS3280.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.350204	0.24512	.	.	ENSG00000113905	ENST00000232003	T	0.21932	1.98	5.6	3.72	0.42706	.	0.277093	0.26003	N	0.026922	T	0.25344	0.0616	L	0.44542	1.39	0.23454	N	0.997642	D	0.65815	0.995	P	0.53954	0.738	T	0.05354	-1.0890	10	0.36615	T	0.2	-0.3608	7.3088	0.26463	0.0948:0.1678:0.7375:0.0	.	2	P04196	HRG_HUMAN	N	2	ENSP00000232003:K2N	ENSP00000232003:K2N	K	+	3	2	HRG	187866520	0.244000	0.23889	0.560000	0.28344	0.137000	0.21094	0.776000	0.26704	0.766000	0.33244	0.655000	0.94253	AAG		PASS	0.443	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412		14	94	14	94	---	---	---	---
UTS2B	257313	broad.mit.edu	37	3	190995924	190995924	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr3:190995924G>T	ENST00000340524.5	-	6	925	c.139C>A	c.(139-141)Cgt>Agt	p.R47S	UTS2B_ENST00000427544.2_Missense_Mutation_p.R47S	NM_198152.3	NP_937795.2	Q765I0	UTS2B_HUMAN	urotensin 2B	47					regulation of blood pressure (GO:0008217)|regulation of vasodilation (GO:0042312)	extracellular region (GO:0005576)		p.R47S(1)									AGTTCCTCACGATTTGTATAT	0.284																																						uc003fsu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(139-141)CGT>AGT		urotensin 2 domain containing precursor							49.0	51.0	50.0					3																	190995924		2201	4287	6488	SO:0001583	missense	257313					extracellular region	hormone activity	g.chr3:190995924G>T	AB116021	CCDS3300.1	3q28	2013-02-28	2013-02-28	2013-02-28	ENSG00000188958	ENSG00000188958		"""Endogenous ligands"""	30894	protein-coding gene	gene with protein product	"""prepro-URP"""		"""urotensin 2 domain containing"""	UTS2D		14550283	Standard	NM_198152		Approved	URP, U2B	uc003fsu.3	Q765I0	OTTHUMG00000156192	ENST00000340524.5:c.139C>A	3.37:g.190995924G>T	ENSP00000340526:p.Arg47Ser						p.R47S	NM_198152	NP_937795	Q765I0	UTS2B_HUMAN	LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000214)	6	926	-	all_cancers(143;1.77e-09)|Ovarian(172;0.103)		47					B3KQY8|D3DNW1|Q2M1Z2	Missense_Mutation	SNP	ENST00000340524.5	37	c.139C>A	CCDS3300.1	.	.	.	.	.	.	.	.	.	.	G	4.045	0.006035	0.07866	.	.	ENSG00000188958	ENST00000340524;ENST00000427544	T;T	0.41400	1.0;1.0	4.3	-0.942	0.10398	.	2.778950	0.01237	N	0.008512	T	0.21921	0.0528	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.09796	-1.0658	10	0.33141	T	0.24	5.6294	2.7128	0.05179	0.0886:0.2925:0.3191:0.2997	.	47	Q765I0	UTS2B_HUMAN	S	47	ENSP00000340526:R47S;ENSP00000398761:R47S	ENSP00000340526:R47S	R	-	1	0	UTS2D	192478618	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.249000	0.08842	-0.176000	0.10707	-1.238000	0.01547	CGT		PASS	0.284	UTS2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343353.1	NM_198152		11	70	11	70	---	---	---	---
MUC20	200958	broad.mit.edu	37	3	195453110	195453110	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr3:195453110G>A	ENST00000447234.2	+	2	1762	c.1636G>A	c.(1636-1638)Gtc>Atc	p.V546I	MUC20_ENST00000320736.6_Missense_Mutation_p.V375I|MUC20_ENST00000445522.2_Missense_Mutation_p.V511I|MUC20_ENST00000436408.1_Missense_Mutation_p.V546I	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	546	Involved in oligomerization.				activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)		p.V546I(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TTACGTCAAAGTCTCAGGAGC	0.572																																						uc010hzo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1123-1125)GTC>ATC		mucin 20 isoform L							48.0	44.0	46.0					3																	195453110		1972	4151	6123	SO:0001583	missense	200958				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane		g.chr3:195453110G>A	AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1636G>A	3.37:g.195453110G>A	ENSP00000414350:p.Val546Ile					MUC20_uc010hzp.2_Missense_Mutation_p.V340I|MUC20_uc011bte.1_RNA	p.V375I	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)	3	1249	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	546			Involved in oligomerization.		Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	ENST00000447234.2	37	c.1123G>A		.	.	.	.	.	.	.	.	.	.	G	9.867	1.197780	0.22037	.	.	ENSG00000176945	ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522	T;T;T;T	0.31247	1.98;2.23;2.14;1.5	3.65	2.77	0.32553	.	0.799334	0.10595	N	0.656302	T	0.18676	0.0448	N	0.24115	0.695	0.09310	N	1	B	0.33318	0.408	B	0.28784	0.094	T	0.14420	-1.0473	10	0.46703	T	0.11	-1.8442	7.1263	0.25473	0.1269:0.0:0.8731:0.0	.	375	E9PH32	.	I	546;375;546;511	ENSP00000414350:V546I;ENSP00000325431:V375I;ENSP00000396774:V546I;ENSP00000405629:V511I	ENSP00000325431:V375I	V	+	1	0	MUC20	196938781	0.011000	0.17503	0.001000	0.08648	0.004000	0.04260	1.653000	0.37323	0.880000	0.35969	0.514000	0.50259	GTC		PASS	0.572	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	NM_152673		10	80	10	80	---	---	---	---
PIGG	54872	broad.mit.edu	37	4	517400	517400	+	Silent	SNP	G	G	T	rs374479393		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr4:517400G>T	ENST00000453061.2	+	9	1873	c.1767G>T	c.(1765-1767)ctG>ctT	p.L589L	PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000504346.1_Silent_p.L500L|PIGG_ENST00000383028.4_Silent_p.L456L|PIGG_ENST00000310340.5_Silent_p.L581L	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	589					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)	p.L581L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						GTCTAGCTCTGAGCCAAGAAA	0.607																																						uc003gak.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1765-1767)CTG>CTT		phosphatidylinositol glycan anchor biosynthesis,							126.0	121.0	122.0					4																	517400		2203	4300	6503	SO:0001819	synonymous_variant	54872				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	g.chr4:517400G>T		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.1767G>T	4.37:g.517400G>T						PIGG_uc003gaj.3_Silent_p.L581L|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Silent_p.L456L|PIGG_uc003gal.3_Silent_p.L500L	p.L589L	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN			9	1903	+			589					B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Silent	SNP	ENST00000453061.2	37	c.1767G>T	CCDS46992.1																																																																																				PASS	0.607	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		62	61	62	61	---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20541128	20541128	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr4:20541128C>T	ENST00000504154.1	+	19	2149	c.1897C>T	c.(1897-1899)Cgt>Tgt	p.R633C	SLIT2_ENST00000503823.1_Missense_Mutation_p.R625C|SLIT2_ENST00000503837.1_Missense_Mutation_p.R629C|SLIT2_ENST00000273739.5_Missense_Mutation_p.R637C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	633					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.R633C(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CAGTTCTGTGCGTTTGCTTTC	0.388																																						uc003gpr.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|skin(4)|ovary(3)	11						c.(1897-1899)CGT>TGT		slit homolog 2 precursor							172.0	162.0	165.0					4																	20541128		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20541128C>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1897C>T	4.37:g.20541128C>T	ENSP00000422591:p.Arg633Cys					SLIT2_uc003gps.1_Missense_Mutation_p.R625C	p.R633C	NM_004787	NP_004778	O94813	SLIT2_HUMAN			19	2101	+			633			LRR 16.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.1897C>T	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906272	0.92107	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.82540	0.5059	M	0.91920	3.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.85428	0.1147	10	0.87932	D	0	.	20.2187	0.98312	0.0:1.0:0.0:0.0	.	625;633	O94813-3;O94813	.;SLIT2_HUMAN	C	625;633;637;629;629	ENSP00000427548:R625C;ENSP00000422591:R633C;ENSP00000273739:R637C;ENSP00000422261:R629C	ENSP00000273739:R637C	R	+	1	0	SLIT2	20150226	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.783000	0.55409	2.780000	0.95670	0.655000	0.94253	CGT		PASS	0.388	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			23	93	23	93	---	---	---	---
KCNIP4	80333	broad.mit.edu	37	4	21305467	21305467	+	Intron	SNP	T	T	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr4:21305467T>G	ENST00000382152.2	-	2	229				KCNIP4_ENST00000447367.2_Intron|KCNIP4_ENST00000382150.4_Missense_Mutation_p.L21F|KCNIP4_ENST00000509207.1_Intron|RP11-120A1.1_ENST00000515680.2_RNA|KCNIP4_ENST00000382148.3_Intron	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4							dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.L21F(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				ACTGTTCCAATAATTTAACAA	0.403																																						uc003gqf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(61-63)TTA>TTC		Kv channel interacting protein 4 isoform 4							114.0	101.0	105.0					4																	21305467		2203	4300	6503	SO:0001627	intron_variant	80333					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity	g.chr4:21305467T>G	AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774		"""EF-hand domain containing"""	30083	protein-coding gene	gene with protein product		608182				11805342, 11847232	Standard	XM_005248190		Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382152.2:c.62-421135A>C	4.37:g.21305467T>G						KCNIP4_uc003gqg.1_Intron|KCNIP4_uc003gqh.1_Intron|KCNIP4_uc003gqi.1_Intron	p.L21F	NM_147183	NP_671712	Q6PIL6	KCIP4_HUMAN			1	63	-		Breast(46;0.134)	Error:Variant_position_missing_in_Q6PIL6_after_alignment					Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	Missense_Mutation	SNP	ENST00000382152.2	37	c.63A>C	CCDS43216.1	.	.	.	.	.	.	.	.	.	.	T	12.92	2.081706	0.36758	.	.	ENSG00000185774	ENST00000382150	T	0.73469	-0.75	5.56	1.86	0.25419	.	.	.	.	.	T	0.59046	0.2165	L	0.39898	1.24	0.80722	D	1	P	0.40970	0.734	B	0.32677	0.15	T	0.53365	-0.8449	9	0.52906	T	0.07	.	8.4848	0.33065	0.0:0.4724:0.0:0.5276	.	21	Q3YAC0	.	F	21	ENSP00000371585:L21F	ENSP00000371585:L21F	L	-	3	2	KCNIP4	20914565	0.994000	0.37717	1.000000	0.80357	0.999000	0.98932	0.205000	0.17356	0.098000	0.17522	0.533000	0.62120	TTA		PASS	0.403	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360407.3	NM_025221		33	38	33	38	---	---	---	---
GABRG1	2565	broad.mit.edu	37	4	46099312	46099312	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr4:46099312C>A	ENST00000295452.4	-	2	326	c.159G>T	c.(157-159)tgG>tgT	p.W53C		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	53					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.W53C(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGGCCAAGACCCAGGTTTTGT	0.363																																						uc003gxb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(157-159)TGG>TGT		gamma-aminobutyric acid A receptor, gamma 1							184.0	186.0	186.0					4																	46099312		2203	4300	6503	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46099312C>A	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.159G>T	4.37:g.46099312C>A	ENSP00000295452:p.Trp53Cys						p.W53C	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	2	311	-			53			Extracellular (Probable).		Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.159G>T	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544251	0.65198	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	T	0.67523	-0.27	4.96	4.96	0.65561	.	1.324360	0.04682	N	0.412584	D	0.84211	0.5422	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72821	-0.4177	10	0.62326	D	0.03	.	17.3741	0.87386	0.0:1.0:0.0:0.0	.	53	Q8N1C3	GBRG1_HUMAN	C	53	ENSP00000295452:W53C	ENSP00000295452:W53C	W	-	3	0	GABRG1	45794069	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	7.319000	0.79040	2.567000	0.86603	0.655000	0.94253	TGG		PASS	0.363	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		80	126	80	126	---	---	---	---
PDGFRA	5156	broad.mit.edu	37	4	55141131	55141131	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr4:55141131C>A	ENST00000257290.5	+	12	2108	c.1777C>A	c.(1777-1779)Cta>Ata	p.L593I	FIP1L1_ENST00000507166.1_Missense_Mutation_p.L353I	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	593	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.L593I(1)|p.L593L(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	AAGAGATGGACTAGTGCTTGG	0.453			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.3				Dom	yes		4	4q11-q13	5156	Mis|O|T	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		2	Substitution - Missense(1)|Substitution - coding silent(1)	p.L593L(1)	lung(1)|central_nervous_system(1)	soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(1777-1779)CTA>ATA		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						90.0	89.0	89.0					4																	55141131		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55141131C>A	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1777C>A	4.37:g.55141131C>A	ENSP00000257290:p.Leu593Ile	TSP Lung(21;0.16)				PDGFRA_uc003haa.2_Missense_Mutation_p.L353I|PDGFRA_uc010igq.1_Missense_Mutation_p.L487I|PDGFRA_uc003ham.2_RNA|PDGFRA_uc003hao.1_5'Flank	p.L593I	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		12	2108	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		593			Protein kinase.|Cytoplasmic (Potential).		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.1777C>A	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.908025	0.72868	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	D;D	0.89681	-2.55;-2.55	6.03	3.38	0.38709	Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.26400	U	0.024582	D	0.90741	0.7094	L	0.39397	1.21	0.80722	D	1	D;D	0.89917	0.988;1.0	D;D	0.91635	0.97;0.999	D	0.90276	0.4311	10	0.72032	D	0.01	.	10.8238	0.46620	0.0:0.6948:0.0:0.3052	.	593;593	P16234-3;P16234	.;PGFRA_HUMAN	I	353;593	ENSP00000423325:L353I;ENSP00000257290:L593I	ENSP00000423325:L353I	L	+	1	2	FIP1L1;PDGFRA	54835888	0.978000	0.34361	0.981000	0.43875	0.913000	0.54294	1.589000	0.36644	0.894000	0.36317	0.655000	0.94253	CTA		PASS	0.453	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		34	41	34	41	---	---	---	---
CEP135	9662	broad.mit.edu	37	4	56820422	56820422	+	Silent	SNP	T	T	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr4:56820422T>A	ENST00000257287.4	+	4	469	c.345T>A	c.(343-345)gcT>gcA	p.A115A	CEP135_ENST00000422247.2_Silent_p.A115A	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	115					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)	p.A115A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GTGAAACAGCTGATCTGAAAT	0.313																																						uc003hbi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(343-345)GCT>GCA		centrosome protein 4							69.0	67.0	67.0					4																	56820422		2203	4300	6503	SO:0001819	synonymous_variant	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56820422T>A	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.345T>A	4.37:g.56820422T>A						CEP135_uc003hbh.1_Silent_p.A115A|CEP135_uc010igz.1_5'UTR	p.A115A	NM_025009	NP_079285	Q66GS9	CP135_HUMAN			4	579	+	Glioma(25;0.08)|all_neural(26;0.101)		115			Potential.		B2RMY0|O75130|Q58F25|Q9H8H7	Silent	SNP	ENST00000257287.4	37	c.345T>A	CCDS33986.1																																																																																				PASS	0.313	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		36	53	36	53	---	---	---	---
SMR3A	26952	broad.mit.edu	37	4	71232593	71232593	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr4:71232593C>T	ENST00000226460.4	+	3	383	c.287C>T	c.(286-288)cCt>cTt	p.P96L		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	96	Pro-rich.					extracellular region (GO:0005576)		p.P96L(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				TCTCTTCCTCCTCCTTATGGC	0.537																																						uc003hfg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(286-288)CCT>CTT		submaxillary gland androgen regulated protein 3							169.0	149.0	156.0					4																	71232593		2203	4300	6503	SO:0001583	missense	26952					extracellular region		g.chr4:71232593C>T	D89501	CCDS34000.1	4q13.3	2009-04-17	2008-02-27	2005-02-07	ENSG00000109208	ENSG00000109208			19216	protein-coding gene	gene with protein product			"""proline rich 5 (salivary)"", ""submaxillary gland androgen regulated protein 3 homolog A (mouse)"""	PROL5		9354371, 17512016	Standard	NM_012390		Approved	PBI, PRL5	uc003hfg.1	Q99954	OTTHUMG00000160839	ENST00000226460.4:c.287C>T	4.37:g.71232593C>T	ENSP00000226460:p.Pro96Leu					SMR3B_uc011cas.1_Intron	p.P96L	NM_012390	NP_036522	Q99954	SMR3A_HUMAN			3	368	+		all_hematologic(202;0.196)	96			Pro-rich.			Missense_Mutation	SNP	ENST00000226460.4	37	c.287C>T	CCDS34000.1	.	.	.	.	.	.	.	.	.	.	C	4.612	0.113762	0.08831	.	.	ENSG00000109208	ENST00000226460	T	0.36340	1.26	3.22	-0.536	0.11876	.	.	.	.	.	T	0.19685	0.0473	N	0.14661	0.345	0.09310	N	1	B	0.20261	0.043	B	0.18263	0.021	T	0.21861	-1.0233	9	0.72032	D	0.01	.	6.2152	0.20651	0.0:0.5021:0.0:0.4979	.	96	Q99954	SMR3A_HUMAN	L	96	ENSP00000226460:P96L	ENSP00000226460:P96L	P	+	2	0	SMR3A	71267182	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.283000	0.08433	-0.166000	0.10890	-0.291000	0.09656	CCT		PASS	0.537	SMR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362574.1	NM_012390		4	100	4	100	---	---	---	---
SHROOM3	57619	broad.mit.edu	37	4	77660963	77660963	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr4:77660963C>T	ENST00000296043.6	+	5	2590	c.1637C>T	c.(1636-1638)cCa>cTa	p.P546L		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	546					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)		p.P545L(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GAGAAGAAACCAGAAGCTACA	0.512																																						uc011cbx.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1636-1638)CCA>CTA		shroom family member 3 protein							154.0	157.0	156.0					4																	77660963		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77660963C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.1637C>T	4.37:g.77660963C>T	ENSP00000296043:p.Pro546Leu					SHROOM3_uc011cbz.1_Missense_Mutation_p.P370L|SHROOM3_uc003hkf.1_Missense_Mutation_p.P421L|SHROOM3_uc003hkg.2_Missense_Mutation_p.P324L	p.P546L	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	2590	+			546					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.1637C>T	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	C	9.284	1.048846	0.19827	.	.	ENSG00000138771	ENST00000296043	T	0.21191	2.02	5.59	3.86	0.44501	.	0.955094	0.08724	N	0.902961	T	0.26593	0.0650	M	0.65975	2.015	0.09310	N	1	P;B;B	0.49185	0.92;0.013;0.013	P;B;B	0.45071	0.468;0.005;0.005	T	0.16070	-1.0415	10	0.39692	T	0.17	-2.4046	6.1428	0.20269	0.2373:0.6062:0.0:0.1565	.	370;546;324	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	L	546	ENSP00000296043:P546L	ENSP00000296043:P546L	P	+	2	0	SHROOM3	77879987	0.001000	0.12720	0.017000	0.16124	0.002000	0.02628	0.931000	0.28871	1.366000	0.46076	0.563000	0.77884	CCA		PASS	0.512	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		53	102	53	102	---	---	---	---
UNC5C	8633	broad.mit.edu	37	4	96166286	96166286	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr4:96166286C>A	ENST00000453304.1	-	6	1133	c.785G>T	c.(784-786)gGc>gTc	p.G262V	UNC5C_ENST00000506749.1_Missense_Mutation_p.G262V	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	262	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)	p.G262V(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GGTGGACCAGCCACCGTTGAC	0.483																																						uc003htp.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(784-786)GGC>GTC		unc5C precursor							52.0	45.0	47.0					4																	96166286		2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96166286C>A	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.785G>T	4.37:g.96166286C>A	ENSP00000406022:p.Gly262Val					UNC5C_uc010ilc.1_Missense_Mutation_p.G262V|UNC5C_uc003htq.2_Missense_Mutation_p.G262V	p.G262V	NM_003728	NP_003719	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	6	939	-		Hepatocellular(203;0.114)	262			Extracellular (Potential).|TSP type-1 1.		Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.785G>T	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889299	0.72524	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749	T;T;T	0.17370	2.28;2.28;2.28	5.44	4.6	0.57074	.	0.050751	0.85682	D	0.000000	T	0.48114	0.1482	M	0.88377	2.95	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.992;0.999;0.998	T	0.58907	-0.7553	10	0.87932	D	0	.	14.0694	0.64851	0.0:0.9286:0.0:0.0714	.	262;262;262	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	V	262;221;262;262	ENSP00000406022:G262V;ENSP00000426924:G262V;ENSP00000426153:G262V	ENSP00000328673:G221V	G	-	2	0	UNC5C	96385309	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	5.936000	0.70153	1.537000	0.49254	0.655000	0.94253	GGC		PASS	0.483	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		15	12	15	12	---	---	---	---
CISD2	493856	broad.mit.edu	37	4	103790340	103790340	+	Silent	SNP	C	C	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr4:103790340C>G	ENST00000273986.4	+	1	206	c.99C>G	c.(97-99)ctC>ctG	p.L33L	UBE2D3_ENST00000357194.6_5'Flank|CISD2_ENST00000503643.1_5'Flank|UBE2D3_ENST00000338145.3_5'Flank	NM_001008388.4	NP_001008389.1	Q8N5K1	CISD2_HUMAN	CDGSH iron sulfur domain 2	33					mitochondrion degradation (GO:0000422)|multicellular organismal aging (GO:0010259)|regulation of autophagy (GO:0010506)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|protein complex (GO:0043234)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.L33L(1)		endometrium(1)|lung(3)	4				OV - Ovarian serous cystadenocarcinoma(123;1.97e-08)		TCGCTAGGCTCACAGGTAATC	0.612																																						uc003hwt.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(97-99)CTC>CTG		CDGSH iron sulfur domain 2							57.0	47.0	50.0					4																	103790340		2203	4299	6502	SO:0001819	synonymous_variant	493856				multicellular organismal aging|regulation of autophagy	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|protein complex	2 iron, 2 sulfur cluster binding|metal ion binding|protein homodimerization activity	g.chr4:103790340C>G	BX537971	CCDS34040.1	4q24	2009-03-25	2007-08-10	2007-08-10	ENSG00000145354	ENSG00000145354		"""CDGSH iron sulfur domain containing"""	24212	protein-coding gene	gene with protein product	"""mitoNEET related 1"", ""endoplasmic reticulum intermembrane small protein"""	611507	"""zinc finger, CDGSH-type domain 2"", ""Wolfram syndrome 2"""	ZCD2, WFS2		17376863, 17584744, 17846994	Standard	NM_001008388		Approved	Miner1, ERIS	uc003hwt.4	Q8N5K1	OTTHUMG00000161014	ENST00000273986.4:c.99C>G	4.37:g.103790340C>G						UBE2D3_uc003hwq.2_5'Flank|UBE2D3_uc003hwr.2_5'Flank	p.L33L	NM_001008388	NP_001008389	Q8N5K1	CISD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.97e-08)	1	206	+			33			Lumenal (Potential).		Q7Z3D5	Silent	SNP	ENST00000273986.4	37	c.99C>G	CCDS34040.1																																																																																				PASS	0.612	CISD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363417.2	NM_001008388		9	9	9	9	---	---	---	---
MAD2L1	4085	broad.mit.edu	37	4	120982076	120982076	+	Missense_Mutation	SNP	C	C	T	rs78047690		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr4:120982076C>T	ENST00000296509.6	-	4	737	c.398G>A	c.(397-399)aGa>aAa	p.R133K		NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)	133	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.R133K(1)		breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						TGTGATCTGTCTGATCACTGA	0.353																																						uc003idl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(397-399)AGA>AAA		MAD2-like 1							63.0	63.0	63.0					4																	120982076		2203	4300	6503	SO:0001583	missense	4085				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint	condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity	g.chr4:120982076C>T	U65410	CCDS3715.1	4q27	2013-01-17	2001-11-28		ENSG00000164109	ENSG00000164109			6763	protein-coding gene	gene with protein product		601467	"""MAD2 (mitotic arrest deficient, yeast, homolog)-like 1"""			8824189, 9345911	Standard	NM_002358		Approved	MAD2, HSMAD2	uc003idl.2	Q13257	OTTHUMG00000132967	ENST00000296509.6:c.398G>A	4.37:g.120982076C>T	ENSP00000296509:p.Arg133Lys					MAD2L1_uc003idm.2_3'UTR	p.R133K	NM_002358	NP_002349	Q13257	MD2L1_HUMAN			4	522	-			133	R->A: Prevents aggregation and promotes formation of monomeric protein that slowly interconverts between the open and closed conformation.		HORMA.		Q53F56|Q548X9|Q6IRW7|Q8IZX3	Missense_Mutation	SNP	ENST00000296509.6	37	c.398G>A	CCDS3715.1	.	.	.	.	.	.	.	.	.	.	C	34	5.351352	0.95830	.	.	ENSG00000164109	ENST00000296509	.	.	.	5.08	5.08	0.68730	DNA-binding HORMA (4);	0.000000	0.85682	D	0.000000	T	0.69433	0.3110	M	0.70903	2.155	0.80722	D	1	B	0.26258	0.145	B	0.30855	0.121	T	0.67345	-0.5694	9	0.36615	T	0.2	-7.7683	18.8254	0.92115	0.0:1.0:0.0:0.0	.	133	Q13257	MD2L1_HUMAN	K	133	.	ENSP00000296509:R133K	R	-	2	0	MAD2L1	121201524	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.141000	0.77330	2.505000	0.84491	0.561000	0.74099	AGA		PASS	0.353	MAD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256525.2			3	57	3	57	---	---	---	---
PRDM5	11107	broad.mit.edu	37	4	121738064	121738064	+	Silent	SNP	T	T	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr4:121738064T>A	ENST00000264808.3	-	6	906	c.666A>T	c.(664-666)acA>acT	p.T222T	PRDM5_ENST00000428209.2_Intron|PRDM5_ENST00000515109.1_Intron	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	222					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.T222T(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGCTTTTCGCTGTGCACTGAA	0.368																																						uc003idn.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(664-666)ACA>ACT		PR domain containing 5							131.0	136.0	134.0					4																	121738064		2203	4300	6503	SO:0001819	synonymous_variant	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121738064T>A	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.666A>T	4.37:g.121738064T>A						PRDM5_uc003ido.2_Intron|PRDM5_uc010ine.2_Intron|PRDM5_uc010inf.2_Intron	p.T222T	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN			6	916	-			222					Q0VAI9|Q0VAJ0|Q6NXQ7	Silent	SNP	ENST00000264808.3	37	c.666A>T	CCDS3716.1																																																																																				PASS	0.368	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			73	94	73	94	---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123268745	123268745	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr4:123268745A>G	ENST00000264501.4	+	76	13313	c.12940A>G	c.(12940-12942)Aaa>Gaa	p.K4314E	KIAA1109_ENST00000388738.3_Missense_Mutation_p.K4314E			Q2LD37	K1109_HUMAN	KIAA1109	4314					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.K4314E(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATCATCAAGAAAAGCTTACTG	0.458																																						uc003ieh.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(12940-12942)AAA>GAA		fragile site-associated protein							77.0	79.0	78.0					4																	123268745		2029	4180	6209	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123268745A>G	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.12940A>G	4.37:g.123268745A>G	ENSP00000264501:p.Lys4314Glu					KIAA1109_uc003iem.2_Missense_Mutation_p.K670E	p.K4314E	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			74	12985	+			4314					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.12940A>G	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.981446	0.74474	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707	T;T;T	0.30714	2.47;2.47;1.52	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.41511	0.1162	N	0.24115	0.695	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.76071	0.987;0.98	T	0.17592	-1.0364	10	0.24483	T	0.36	.	16.635	0.85050	1.0:0.0:0.0:0.0	.	4313;4314	Q2LD37-4;Q2LD37	.;K1109_HUMAN	E	4314;4314;983	ENSP00000264501:K4314E;ENSP00000373390:K4314E;ENSP00000410874:K983E	ENSP00000264501:K4314E	K	+	1	0	KIAA1109	123488195	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.559000	0.90708	2.330000	0.79161	0.477000	0.44152	AAA		PASS	0.458	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		6	51	6	51	---	---	---	---
IL2	3558	broad.mit.edu	37	4	123374898	123374898	+	Silent	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr4:123374898G>T	ENST00000226730.4	-	3	602	c.318C>A	c.(316-318)atC>atA	p.I106I		NM_000586.3	NP_000577.2	P60568	IL2_HUMAN	interleukin 2	106					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|immune response (GO:0006955)|natural killer cell activation (GO:0030101)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of heart contraction (GO:0045822)|negative regulation of inflammatory response (GO:0050728)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of T cell homeostatic proliferation (GO:0046013)|T cell differentiation (GO:0030217)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|cytokine activity (GO:0005125)|glycosphingolipid binding (GO:0043208)|growth factor activity (GO:0008083)|interleukin-2 receptor binding (GO:0005134)|kinase activator activity (GO:0019209)	p.I106I(1)		endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)	Pseudoephedrine(DB00852)	TGATATTGCTGATTAAGTCCC	0.358			T	TNFRSF17	intestinal T-cell lymphoma																																	uc003ier.2				Dom	yes		4	4q26-q27	3558	T	interleukin 2			L	TNFRSF17		intestinal T-cell lymphoma		1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(316-318)ATC>ATA		interleukin 2 precursor							139.0	139.0	139.0					4																	123374898		2203	4300	6503	SO:0001819	synonymous_variant	3558				anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity	g.chr4:123374898G>T	U25676	CCDS3726.1	4q26-q27	2011-07-14			ENSG00000109471	ENSG00000109471		"""Interleukins and interleukin receptors"""	6001	protein-coding gene	gene with protein product	"""T cell growth factor"""	147680				3260003	Standard	NM_000586		Approved	IL-2, TCGF	uc003ier.3	P60568	OTTHUMG00000133075	ENST00000226730.4:c.318C>A	4.37:g.123374898G>T							p.I106I	NM_000586	NP_000577	P60568	IL2_HUMAN		LUSC - Lung squamous cell carcinoma(721;0.185)	3	373	-			106					P01585	Silent	SNP	ENST00000226730.4	37	c.318C>A	CCDS3726.1																																																																																				PASS	0.358	IL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256715.2			44	87	44	87	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134076121	134076121	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr4:134076121G>C	ENST00000264360.5	+	3	3566	c.2740G>C	c.(2740-2742)Gga>Cga	p.G914R		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	914					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G914R(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CAGTGGTCATGGAGACAGTGA	0.413																																						uc003iha.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2740-2742)GGA>CGA		protocadherin 10 isoform 1 precursor							135.0	132.0	133.0					4																	134076121		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134076121G>C	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2740G>C	4.37:g.134076121G>C	ENSP00000264360:p.Gly914Arg						p.G914R	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	3	3566	+			914			Cytoplasmic (Potential).		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.2740G>C	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378095	0.82682	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.66280	-0.2	5.55	5.55	0.83447	.	0.000000	0.42053	D	0.000770	T	0.73265	0.3565	L	0.43923	1.385	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66204	-0.5982	10	0.24483	T	0.36	.	19.2868	0.94082	0.0:0.0:1.0:0.0	.	914	Q9P2E7	PCD10_HUMAN	R	914	ENSP00000264360:G914R	ENSP00000264360:G914R	G	+	1	0	PCDH10	134295571	1.000000	0.71417	0.977000	0.42913	0.984000	0.73092	9.263000	0.95617	2.885000	0.99019	0.655000	0.94253	GGA		PASS	0.413	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		27	43	27	43	---	---	---	---
NR3C2	4306	broad.mit.edu	37	4	149356359	149356359	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr4:149356359G>C	ENST00000358102.3	-	2	2016	c.1654C>G	c.(1654-1656)Cct>Gct	p.P552A	NR3C2_ENST00000512865.1_Missense_Mutation_p.P552A|NR3C2_ENST00000511528.1_Missense_Mutation_p.P552A|NR3C2_ENST00000344721.4_Missense_Mutation_p.P552A|NR3C2_ENST00000355292.3_Missense_Mutation_p.P552A	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	552	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.P552A(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	GTATTGACAGGAGGAAAGGAA	0.448																																					Melanoma(27;428 957 40335 51025 51111)	uc003ilj.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1654-1656)CCT>GCT		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						122.0	116.0	118.0					4																	149356359		2203	4300	6503	SO:0001583	missense	4306				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149356359G>C	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.1654C>G	4.37:g.149356359G>C	ENSP00000350815:p.Pro552Ala					NR3C2_uc003ilk.3_Missense_Mutation_p.P552A|NR3C2_uc010iph.2_RNA	p.P552A	NM_000901	NP_000892	P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	2	1988	-	all_hematologic(180;0.151)		552			Modulating.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	c.1654C>G	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.842237	0.32513	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.90732	-2.71;-2.72;-2.71;-2.43;-2.4;-2.72	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.84028	0.5382	L	0.32530	0.975	0.58432	D	0.999997	B;B	0.15141	0.012;0.001	B;B	0.12156	0.007;0.003	T	0.77230	-0.2664	9	.	.	.	.	11.0841	0.48076	0.071:0.1305:0.7985:0.0	.	552;552	B0ZBF5;B0ZBF6	.;.	A	552	ENSP00000341390:P552A;ENSP00000347441:P552A;ENSP00000350815:P552A;ENSP00000423510:P552A;ENSP00000343907:P552A;ENSP00000421481:P552A	.	P	-	1	0	NR3C2	149575809	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.051000	0.71072	2.738000	0.93877	0.655000	0.94253	CCT		PASS	0.448	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			8	89	8	89	---	---	---	---
LRAT	9227	broad.mit.edu	37	4	155670218	155670218	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr4:155670218G>T	ENST00000336356.3	+	3	876	c.623G>T	c.(622-624)tGt>tTt	p.C208F	LRAT_ENST00000507827.1_Missense_Mutation_p.C208F	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	208					phototransduction, visible light (GO:0007603)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)	phosphatidylcholine-retinol O-acyltransferase activity (GO:0047173)|retinoic acid binding (GO:0001972)|retinol binding (GO:0019841)|transferase activity, transferring acyl groups (GO:0016746)	p.C208F(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	TCTATAGTCTGTACGGGCTTG	0.408																																						uc003iom.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(622-624)TGT>TTT		lecithin retinol acyltransferase	Vitamin A(DB00162)						259.0	227.0	238.0					4																	155670218		2203	4300	6503	SO:0001583	missense	9227				response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity	g.chr4:155670218G>T	AF071510	CCDS3789.1	4q32.1	2014-01-28			ENSG00000121207	ENSG00000121207	2.3.1.135		6685	protein-coding gene	gene with protein product		604863				9920938	Standard	XM_006714412		Approved	LCA14	uc003ion.1	O95237	OTTHUMG00000161418	ENST00000336356.3:c.623G>T	4.37:g.155670218G>T	ENSP00000337224:p.Cys208Phe					LRAT_uc003ion.1_Missense_Mutation_p.C208F	p.C208F	NM_004744	NP_004735	O95237	LRAT_HUMAN			2	950	+	all_hematologic(180;0.215)	Renal(120;0.0458)	208	C->A: Does not affect activity.		Helical; (Potential).		A8K983|Q8N716	Missense_Mutation	SNP	ENST00000336356.3	37	c.623G>T	CCDS3789.1	.	.	.	.	.	.	.	.	.	.	G	4.306	0.056088	0.08291	.	.	ENSG00000121207	ENST00000507827;ENST00000336356	T;T	0.45276	0.9;0.9	5.96	0.75	0.18387	.	0.229134	0.53938	D	0.000042	T	0.25306	0.0615	L	0.40543	1.245	0.40718	D	0.982634	B	0.12013	0.005	B	0.09377	0.004	T	0.09271	-1.0682	10	0.12430	T	0.62	-13.3623	5.327	0.15913	0.3149:0.0:0.5575:0.1276	.	208	O95237	LRAT_HUMAN	F	208	ENSP00000426761:C208F;ENSP00000337224:C208F	ENSP00000337224:C208F	C	+	2	0	LRAT	155889668	0.298000	0.24417	0.019000	0.16419	0.704000	0.40688	0.504000	0.22626	0.015000	0.14971	0.655000	0.94253	TGT		PASS	0.408	LRAT-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365246.1	NM_004744		70	104	70	104	---	---	---	---
GALNT7	51809	broad.mit.edu	37	4	174090001	174090001	+	Silent	SNP	T	T	A	rs200341876	byFrequency	TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr4:174090001T>A	ENST00000265000.4	+	1	98	c.15T>A	c.(13-15)atT>atA	p.I5I	RP11-10K16.1_ENST00000500914.2_RNA|RP11-10K16.1_ENST00000510523.1_RNA|RP11-10K16.1_ENST00000499322.2_RNA|GALNT7_ENST00000512285.1_Silent_p.I5I	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	5					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.I5I(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		GGCTGAAGATTGGGTTCATCT	0.667																																						uc003isz.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(13-15)ATT>ATA		polypeptide N-acetylgalactosaminyltransferase 7							145.0	127.0	133.0					4																	174090001		2203	4300	6503	SO:0001819	synonymous_variant	51809				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:174090001T>A	AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"""Glycosyltransferase family 2 domain containing"""	4129	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 7"""	605005	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"""			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.15T>A	4.37:g.174090001T>A						uc003isy.1_Intron	p.I5I	NM_017423	NP_059119	Q86SF2	GALT7_HUMAN		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)	1	98	+		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	5			Cytoplasmic (Potential).		B3KQU3|Q7Z5W7|Q9UJ28	Silent	SNP	ENST00000265000.4	37	c.15T>A	CCDS3815.1																																																																																				PASS	0.667	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	NM_017423		7	14	7	14	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13759076	13759076	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr5:13759076T>A	ENST00000265104.4	-	61	10402	c.10298A>T	c.(10297-10299)cAa>cTa	p.Q3433L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3433	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q3433L(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCGATTCTCTTGCACCACCAA	0.542									Kartagener syndrome																													uc003jfd.2																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(10297-10299)CAA>CTA		dynein, axonemal, heavy chain 5							163.0	147.0	152.0					5																	13759076		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13759076T>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10298A>T	5.37:g.13759076T>A	ENSP00000265104:p.Gln3433Leu					DNAH5_uc003jfc.2_5'UTR	p.Q3433L	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			61	10340	-	Lung NSC(4;0.00476)		3433			Stalk (By similarity).|Potential.		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.10298A>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	17.37	3.371444	0.61624	.	.	ENSG00000039139	ENST00000265104	T	0.74526	-0.85	5.78	4.6	0.57074	Dynein heavy chain, coiled coil stalk (1);	0.113842	0.64402	D	0.000010	D	0.83543	0.5277	M	0.80616	2.505	0.80722	D	1	D	0.54772	0.968	P	0.59825	0.864	T	0.82979	-0.0188	10	0.37606	T	0.19	.	13.0689	0.59048	0.0:0.0:0.1343:0.8657	.	3433	Q8TE73	DYH5_HUMAN	L	3433	ENSP00000265104:Q3433L	ENSP00000265104:Q3433L	Q	-	2	0	DNAH5	13812076	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	7.939000	0.87685	1.005000	0.39183	-0.321000	0.08615	CAA		PASS	0.542	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		33	254	33	254	---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26881271	26881271	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr5:26881271C>G	ENST00000231021.4	-	12	2516	c.2344G>C	c.(2344-2346)Ggg>Cgg	p.G782R		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	782					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G782R(1)|p.G782W(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCATCACCCCCATACATATCG	0.408																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(2344-2346)GGG>CGG		cadherin 9, type 2 preproprotein							143.0	138.0	140.0					5																	26881271		2203	4299	6502	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26881271C>G	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.2344G>C	5.37:g.26881271C>G	ENSP00000231021:p.Gly782Arg					CDH9_uc011cnv.1_Missense_Mutation_p.G375R	p.G782R	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			12	2513	-			782			Cytoplasmic (Potential).		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.2344G>C	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.460351	0.63401	.	.	ENSG00000113100	ENST00000231021	T	0.79033	-1.23	5.26	5.26	0.73747	Cadherin, cytoplasmic domain (1);	0.208186	0.49305	D	0.000148	D	0.89266	0.6666	M	0.85197	2.74	0.49687	D	0.999815	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90204	0.4259	9	.	.	.	.	17.4441	0.87574	0.0:1.0:0.0:0.0	.	375;782	B4DFP0;Q9ULB4	.;CADH9_HUMAN	R	782	ENSP00000231021:G782R	.	G	-	1	0	CDH9	26917028	0.995000	0.38212	1.000000	0.80357	0.942000	0.58702	3.724000	0.54962	2.456000	0.83038	0.557000	0.71058	GGG		PASS	0.408	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		44	217	44	217	---	---	---	---
RXFP3	51289	broad.mit.edu	37	5	33937196	33937196	+	Silent	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr5:33937196C>A	ENST00000330120.3	+	1	706	c.351C>A	c.(349-351)atC>atA	p.I117I		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	117					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)	p.I117I(1)		endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						AGTCCTCTATCAACCTCTTCG	0.592																																						uc003jic.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(349-351)ATC>ATA		relaxin/insulin-like family peptide receptor 3							122.0	114.0	116.0					5																	33937196		2203	4300	6503	SO:0001819	synonymous_variant	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33937196C>A	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.351C>A	5.37:g.33937196C>A							p.I117I	NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN			1	708	+			117			Cytoplasmic (Potential).		Q14DA5	Silent	SNP	ENST00000330120.3	37	c.351C>A	CCDS3900.1																																																																																				PASS	0.592	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		21	133	21	133	---	---	---	---
EGFLAM	133584	broad.mit.edu	37	5	38407059	38407059	+	Missense_Mutation	SNP	A	A	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr5:38407059A>C	ENST00000354891.3	+	8	1304	c.958A>C	c.(958-960)Acg>Ccg	p.T320P	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.T86P|EGFLAM_ENST00000322350.5_Missense_Mutation_p.T320P	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	320					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.T320P(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CCCTGTGACCACGGTGGCTCC	0.478																																					Colon(62;485 1295 3347 17454)	uc003jlc.1																			2	Substitution - Missense(2)		lung(2)	pancreas(3)|skin(3)|ovary(1)	7						c.(958-960)ACG>CCG		EGF-like, fibronectin type III and laminin G							147.0	140.0	143.0					5																	38407059		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38407059A>C	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.958A>C	5.37:g.38407059A>C	ENSP00000346964:p.Thr320Pro					EGFLAM_uc003jlb.1_Missense_Mutation_p.T320P|EGFLAM_uc003jle.1_Missense_Mutation_p.T86P|EGFLAM_uc003jlf.1_Intron	p.T320P	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN			8	1282	+	all_lung(31;0.000385)		320					A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.958A>C	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	A	11.13	1.547969	0.27652	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	T;T;D	0.82526	0.51;0.35;-1.62	5.69	-1.83	0.07833	.	0.549717	0.20252	N	0.096048	T	0.76321	0.3971	M	0.69823	2.125	0.09310	N	1	B;B;B	0.11235	0.0;0.0;0.004	B;B;B	0.11329	0.001;0.001;0.006	T	0.61898	-0.6968	10	0.32370	T	0.25	-11.9918	6.8534	0.24028	0.3694:0.3219:0.3087:0.0	.	86;320;320	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	P	320;320;86;86	ENSP00000346964:T320P;ENSP00000313084:T320P;ENSP00000337607:T86P	ENSP00000313084:T320P	T	+	1	0	EGFLAM	38442816	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.191000	0.09601	-0.542000	0.06249	0.533000	0.62120	ACG		PASS	0.478	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		13	199	13	199	---	---	---	---
ZNF131	7690	broad.mit.edu	37	5	43139363	43139363	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr5:43139363C>T	ENST00000399534.1	+	4	367	c.323C>T	c.(322-324)gCa>gTa	p.A108V	ZNF131_ENST00000306938.4_Missense_Mutation_p.A108V|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000505606.2_Missense_Mutation_p.A108V|ZNF131_ENST00000509634.1_Missense_Mutation_p.A108V|ZNF131_ENST00000509156.1_Missense_Mutation_p.A108V			P52739	ZN131_HUMAN	zinc finger protein 131	108					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A108V(1)		breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						GTATGGAAAGCAGCAGAGTTT	0.358																																						uc011cpw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(322-324)GCA>GTA		zinc finger protein 131							123.0	116.0	119.0					5																	43139363		1870	4101	5971	SO:0001583	missense	7690					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:43139363C>T	U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"""Zinc fingers, C2H2-type"", ""-"", ""BTB/POZ domain containing"""	12915	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 35"""	604073	"""zinc finger protein 131 (clone pHZ-10)"""				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.323C>T	5.37:g.43139363C>T	ENSP00000382450:p.Ala108Val					ZNF131_uc010ivl.1_Missense_Mutation_p.A108V|ZNF131_uc003jnj.3_5'UTR|ZNF131_uc003jnk.2_Missense_Mutation_p.A108V|ZNF131_uc003jnn.3_Intron|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_RNA	p.A108V	NM_003432	NP_003423	P52739	ZN131_HUMAN			4	359	+			108					B4DRL3|Q6PIF0	Missense_Mutation	SNP	ENST00000399534.1	37	c.323C>T		.	.	.	.	.	.	.	.	.	.	C	23.1	4.375840	0.82682	.	.	ENSG00000172262	ENST00000515326;ENST00000509156;ENST00000508259;ENST00000306938;ENST00000399534;ENST00000505606;ENST00000509634;ENST00000509341	T;T;T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73;1.73;1.73	5.24	5.24	0.73138	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.50103	0.1596	M	0.63843	1.955	0.58432	D	0.999992	P;D	0.76494	0.933;0.999	P;D	0.83275	0.855;0.996	T	0.41910	-0.9482	10	0.40728	T	0.16	-15.1142	18.8263	0.92121	0.0:1.0:0.0:0.0	.	108;108	P52739;P52739-2	ZN131_HUMAN;.	V	108	ENSP00000422079:A108V;ENSP00000426504:A108V;ENSP00000422659:A108V;ENSP00000305804:A108V;ENSP00000382450:A108V;ENSP00000423945:A108V;ENSP00000421246:A108V;ENSP00000424771:A108V	ENSP00000305804:A108V	A	+	2	0	ZNF131	43175120	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.179000	0.77665	2.425000	0.82216	0.655000	0.94253	GCA		PASS	0.358	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000367982.1	NM_003432		31	145	31	145	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45262584	45262584	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr5:45262584G>T	ENST00000303230.4	-	8	2169	c.2112C>A	c.(2110-2112)tgC>tgA	p.C704*		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	704					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.C704*(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CAGGAGGGCTGCAGACCGCGG	0.647																																						uc003jok.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(2110-2112)TGC>TGA		hyperpolarization activated cyclic							62.0	60.0	61.0					5																	45262584		2203	4300	6503	SO:0001587	stop_gained	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262584G>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2112C>A	5.37:g.45262584G>T	ENSP00000307342:p.Cys704*						p.C704*	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	2137	-			704			Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000303230.4	37	c.2112C>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	36	5.772875	0.96922	.	.	ENSG00000164588	ENST00000303230	.	.	.	5.39	3.62	0.41486	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	11.2894	0.49241	0.1458:0.0:0.8542:0.0	.	.	.	.	X	704	.	ENSP00000307342:C704X	C	-	3	2	HCN1	45298341	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.862000	0.39448	0.662000	0.31006	0.563000	0.77884	TGC		PASS	0.647	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		14	33	14	33	---	---	---	---
MAP3K1	4214	broad.mit.edu	37	5	56168787	56168787	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr5:56168787G>T	ENST00000399503.3	+	9	1641	c.1641G>T	c.(1639-1641)caG>caT	p.Q547H		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	547					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)	p.Q547H(1)|p.Q384H(1)		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)		ATGGAACTCAGCAAATCCCTC	0.403																																						uc003jqw.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1639-1641)CAG>CAT		mitogen-activated protein kinase kinase kinase							71.0	67.0	68.0					5																	56168787		1862	4097	5959	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56168787G>T	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.1641G>T	5.37:g.56168787G>T	ENSP00000382423:p.Gln547His						p.Q547H	NM_005921	NP_005912	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	9	2142	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	547						Missense_Mutation	SNP	ENST00000399503.3	37	c.1641G>T	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707087	0.68615	.	.	ENSG00000095015	ENST00000399503	T	0.69040	-0.37	5.97	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.64371	0.2592	L	0.51422	1.61	0.50039	D	0.999849	P	0.52842	0.956	P	0.48030	0.564	T	0.65573	-0.6135	10	0.51188	T	0.08	.	9.0729	0.36504	0.071:0.0:0.7508:0.1782	.	547	Q13233	M3K1_HUMAN	H	547	ENSP00000382423:Q547H	ENSP00000382423:Q547H	Q	+	3	2	MAP3K1	56204544	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.859000	0.48364	1.357000	0.45904	0.650000	0.86243	CAG		PASS	0.403	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		21	31	21	31	---	---	---	---
SLCO6A1	133482	broad.mit.edu	37	5	101724397	101724397	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr5:101724397C>G	ENST00000506729.1	-	12	2183	c.2012G>C	c.(2011-2013)gGa>gCa	p.G671A	SLCO6A1_ENST00000379810.1_Missense_Mutation_p.G418A|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.G418A|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.G609A|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.G671A			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	671						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.G671A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CTTACATATTCCTACCAATAA	0.269																																						uc003knn.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|central_nervous_system(1)	7						c.(2011-2013)GGA>GCA		solute carrier organic anion transporter family,							60.0	58.0	59.0					5																	101724397		2200	4297	6497	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101724397C>G	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.2012G>C	5.37:g.101724397C>G	ENSP00000421339:p.Gly671Ala					SLCO6A1_uc003kno.2_Missense_Mutation_p.G418A|SLCO6A1_uc003knp.2_Missense_Mutation_p.G671A|SLCO6A1_uc003knq.2_Missense_Mutation_p.G609A	p.G671A	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	12	2184	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	671			Extracellular (Potential).		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.2012G>C	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	C	5.198	0.222030	0.09863	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;0.52;0.52	5.06	2.21	0.28008	Major facilitator superfamily domain, general substrate transporter (1);	0.628312	0.14856	N	0.294358	T	0.75184	0.3815	L	0.54323	1.7	0.09310	N	1	D;B;D	0.54772	0.968;0.131;0.957	P;B;B	0.52758	0.708;0.189;0.444	T	0.62732	-0.6792	10	0.08599	T	0.76	.	8.1324	0.31035	0.0:0.616:0.3007:0.0833	.	609;418;671	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	A	671;671;609;418;418	ENSP00000421339:G671A;ENSP00000369135:G671A;ENSP00000373671:G609A;ENSP00000421990:G418A;ENSP00000369138:G418A	ENSP00000369135:G671A	G	-	2	0	SLCO6A1	101752296	0.174000	0.23070	0.004000	0.12327	0.004000	0.04260	0.833000	0.27504	0.266000	0.21894	-0.157000	0.13467	GGA		PASS	0.269	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		21	41	21	41	---	---	---	---
FAM170A	340069	broad.mit.edu	37	5	118970249	118970249	+	Missense_Mutation	SNP	G	G	T	rs200846075		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr5:118970249G>T	ENST00000515256.1	+	3	978	c.806G>T	c.(805-807)gGc>gTc	p.G269V				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	269					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G269V(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						CAGCTGACAGGCAACATGGAA	0.537																																						uc003ksm.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(805-807)GGC>GTC		family with sequence similarity 170, member A		G	VAL/GLY,VAL/GLY	0,4140		0,0,2070	119.0	128.0	125.0		665,806	2.7	0.0	5		125	7,8431		0,7,4212	yes	missense,missense	FAM170A	NM_001163991.1,NM_182761.3	109,109	0,7,6282	TT,TG,GG		0.083,0.0,0.0557	probably-damaging,probably-damaging	222/283,269/330	118970249	7,12571	2070	4219	6289	SO:0001583	missense	340069					intracellular	zinc ion binding	g.chr5:118970249G>T	AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.806G>T	5.37:g.118970249G>T	ENSP00000422684:p.Gly269Val					FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.2_Missense_Mutation_p.G269V|FAM170A_uc003kso.2_Missense_Mutation_p.G222V	p.G269V	NM_182761	NP_877438	A1A519	F170A_HUMAN			3	1016	+			269					Q66LM8|Q7Z4V2|Q8IW94	Missense_Mutation	SNP	ENST00000515256.1	37	c.806G>T		.	.	.	.	.	.	.	.	.	.	G	14.87	2.665304	0.47677	0.0	8.3E-4	ENSG00000164334	ENST00000515256	T	0.32272	1.46	4.45	2.67	0.31697	.	0.130252	0.35739	N	0.003004	T	0.43919	0.1269	M	0.65975	2.015	0.18873	N	0.999987	D;D	0.63880	0.993;0.987	P;P	0.60541	0.866;0.876	T	0.17198	-1.0377	9	.	.	.	-10.2107	7.0874	0.25266	0.2022:0.0:0.7978:0.0	.	222;269	D6RIE9;A1A519	.;F170A_HUMAN	V	269	ENSP00000422684:G269V	.	G	+	2	0	FAM170A	118998148	0.042000	0.20092	0.007000	0.13788	0.154000	0.21943	1.610000	0.36869	0.815000	0.34398	0.655000	0.94253	GGC		PASS	0.537	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371126.1	NM_182761		83	89	83	89	---	---	---	---
SNCAIP	9627	broad.mit.edu	37	5	121759012	121759012	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr5:121759012A>G	ENST00000261368.8	+	4	842	c.580A>G	c.(580-582)Aca>Gca	p.T194A	SNCAIP_ENST00000503116.2_Missense_Mutation_p.T241A|SNCAIP_ENST00000379536.2_Missense_Mutation_p.T194A|SNCAIP_ENST00000261367.7_Missense_Mutation_p.T241A|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.T241A|SNCAIP_ENST00000414317.2_Intron	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	194					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)	p.T241A(2)|p.T194A(1)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGCCTGCTCTACAGGAAGTTC	0.458																																						uc003ksw.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)|pancreas(1)	2						c.(580-582)ACA>GCA		synuclein alpha interacting protein							95.0	98.0	97.0					5																	121759012		2203	4300	6503	SO:0001583	missense	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121759012A>G	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.580A>G	5.37:g.121759012A>G	ENSP00000261368:p.Thr194Ala					SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.2_Missense_Mutation_p.T194A|SNCAIP_uc003ksx.1_Missense_Mutation_p.T241A|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.T194A	p.T194A	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	4	786	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	194					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	c.580A>G	CCDS4131.1	.	.	.	.	.	.	.	.	.	.	A	6.013	0.370717	0.11409	.	.	ENSG00000064692	ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000261367;ENST00000503116	T;T;T;T;T;T	0.12361	5.0;2.73;2.69;5.0;2.69;4.47	5.88	-11.8	0.00035	.	0.868152	0.10631	N	0.652186	T	0.05547	0.0146	N	0.24115	0.695	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.08055	0.0;0.002;0.003;0.0	T	0.25082	-1.0142	9	.	.	.	2.3921	8.1215	0.30974	0.1793:0.5361:0.2119:0.0727	.	194;241;241;194	D6R9G8;Q9Y6H5-6;Q9Y6H5-3;Q9Y6H5	.;.;.;SNCAP_HUMAN	A	194;194;241;194;241;241	ENSP00000422106:T194A;ENSP00000261368:T194A;ENSP00000368848:T241A;ENSP00000368851:T194A;ENSP00000261367:T241A;ENSP00000423199:T241A	.	T	+	1	0	SNCAIP	121786911	0.000000	0.05858	0.000000	0.03702	0.886000	0.51366	-0.708000	0.05035	-2.021000	0.00939	-0.396000	0.06452	ACA		PASS	0.458	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			30	140	30	140	---	---	---	---
MYOT	9499	broad.mit.edu	37	5	137206399	137206399	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr5:137206399G>T	ENST00000239926.4	+	2	433	c.59G>T	c.(58-60)aGa>aTa	p.R20I	MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000421631.2_Intron|MYOT_ENST00000515645.1_Intron	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	20					muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)	p.R20I(1)		cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGTGGCTCCAGATTGCAGCCT	0.448																																						uc011cye.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(58-60)AGA>ATA		myotilin isoform b							132.0	140.0	137.0					5																	137206399		2203	4300	6503	SO:0001583	missense	9499				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle	g.chr5:137206399G>T	AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"""Immunoglobulin superfamily / I-set domain containing"""	12399	protein-coding gene	gene with protein product		604103	"""titin immunoglobulin domain protein (myotilin)"", ""limb-girdle muscular dystrophy 1A (autosomal dominant)"""	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.59G>T	5.37:g.137206399G>T	ENSP00000239926:p.Arg20Ile					MYOT_uc003lbv.2_Missense_Mutation_p.R20I|MYOT_uc011cyg.1_Intron|MYOT_uc011cyh.1_Intron	p.R20I	NM_001135940	NP_001129412	Q9UBF9	MYOTI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		2	76	+			20					A0A4R6|B4DT79	Missense_Mutation	SNP	ENST00000239926.4	37	c.59G>T	CCDS4194.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.042873	0.55003	.	.	ENSG00000120729	ENST00000239926	T	0.67698	-0.28	5.7	5.7	0.88788	.	0.270684	0.31949	N	0.006820	T	0.49218	0.1544	N	0.19112	0.55	0.80722	D	1	B	0.24533	0.105	B	0.24541	0.054	T	0.46261	-0.9204	10	0.36615	T	0.2	.	8.8335	0.35098	0.1259:0.0:0.8741:0.0	.	20	Q9UBF9	MYOTI_HUMAN	I	20	ENSP00000239926:R20I	ENSP00000239926:R20I	R	+	2	0	MYOT	137234298	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.872000	0.56085	2.692000	0.91855	0.650000	0.86243	AGA		PASS	0.448	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	NM_006790		65	100	65	100	---	---	---	---
PCDHGA9	56107	broad.mit.edu	37	5	140783125	140783125	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr5:140783125G>T	ENST00000573521.1	+	1	606	c.606G>T	c.(604-606)agG>agT	p.R202S	PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	202	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTGGACAGGGAGGAGGCAA	0.622																																						uc003lkh.1																			0					0						c.(604-606)AGG>AGT		protocadherin gamma subfamily A, 9 isoform 1							38.0	42.0	41.0					5																	140783125		2056	4187	6243	SO:0001583	missense	56107				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140783125G>T	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.606G>T	5.37:g.140783125G>T	ENSP00000460274:p.Arg202Ser					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.R202S	p.R202S	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	606	+			202			Extracellular (Potential).|Cadherin 2.		A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	c.606G>T	CCDS58981.1																																																																																				PASS	0.622	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		7	10	7	10	---	---	---	---
HDAC3	8841	broad.mit.edu	37	5	141005610	141005610	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr5:141005610C>A	ENST00000305264.3	-	12	1028	c.949G>T	c.(949-951)Gag>Tag	p.E317*	HDAC3_ENST00000469207.1_5'UTR|AC008781.7_ENST00000422040.2_RNA	NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	317					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|protein deacetylation (GO:0006476)|regulation of mitotic cell cycle (GO:0007346)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|cyclin binding (GO:0030332)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.E317*(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	CTAATGGCCTCTTCTACCAGC	0.532																																						uc003llf.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(949-951)GAG>TAG		histone deacetylase 3	Vorinostat(DB02546)						159.0	148.0	151.0					5																	141005610		2203	4300	6503	SO:0001587	stop_gained	8841				anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding	g.chr5:141005610C>A	AF059650	CCDS4264.1	5q31.1-q31.2	2008-07-18			ENSG00000171720	ENSG00000171720	3.5.1.98		4854	protein-coding gene	gene with protein product		605166				9501169, 9464271	Standard	NM_003883		Approved	RPD3, HD3, RPD3-2	uc003llf.2	O15379	OTTHUMG00000129629	ENST00000305264.3:c.949G>T	5.37:g.141005610C>A	ENSP00000302967:p.Glu317*					HDAC3_uc003lle.1_Nonsense_Mutation_p.E260*	p.E317*	NM_003883	NP_003874	O15379	HDAC3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		12	1015	-			317					D3DQE1|O43268|Q9UEI5|Q9UEV0	Nonsense_Mutation	SNP	ENST00000305264.3	37	c.949G>T	CCDS4264.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045084	0.93685	.	.	ENSG00000171720	ENST00000305264;ENST00000523353	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-27.5789	19.2483	0.93912	0.0:1.0:0.0:0.0	.	.	.	.	X	317;123	.	ENSP00000302967:E317X	E	-	1	0	HDAC3	140985794	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.882000	0.98803	0.655000	0.94253	GAG		PASS	0.532	HDAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251824.2	NM_003883		10	83	10	83	---	---	---	---
HTR4	3360	broad.mit.edu	37	5	147902862	147902862	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr5:147902862G>T	ENST00000377888.3	-	5	539	c.401C>A	c.(400-402)aCc>aAc	p.T134N	HTR4_ENST00000520514.1_Missense_Mutation_p.T134N|HTR4_ENST00000354217.2_Missense_Mutation_p.T134N|HTR4_ENST00000362016.2_Missense_Mutation_p.T134N|HTR4_ENST00000314512.6_Missense_Mutation_p.T134N|HTR4_ENST00000517929.1_Missense_Mutation_p.T134N|HTR4_ENST00000360693.3_Missense_Mutation_p.T134N|HTR4_ENST00000521735.1_Missense_Mutation_p.T134N|HTR4_ENST00000521530.1_Missense_Mutation_p.T134N	NM_000870.5	NP_000861.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	134					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.T134N(3)		endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	GCGCAGAGGGGTCATCTTGTT	0.498																																					GBM(120;370 1604 14007 17804 41573)	uc003lpn.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(400-402)ACC>AAC		serotonin 5-HT4 receptor isoform b	Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)						66.0	60.0	62.0					5																	147902862		2203	4300	6503	SO:0001583	missense	3360				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity	g.chr5:147902862G>T	Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5299	protein-coding gene	gene with protein product		602164	"""5-hydroxytryptamine (serotonin) receptor 4"""			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000377888.3:c.401C>A	5.37:g.147902862G>T	ENSP00000367120:p.Thr134Asn					HTR4_uc010jgu.1_RNA|HTR4_uc003lpi.1_Missense_Mutation_p.T134N|HTR4_uc003lpj.1_Missense_Mutation_p.T134N|HTR4_uc003lpk.2_Missense_Mutation_p.T134N|HTR4_uc011dby.1_Missense_Mutation_p.T134N|HTR4_uc003lpl.2_Missense_Mutation_p.T134N|HTR4_uc003lpm.2_Missense_Mutation_p.T134N|HTR4_uc010jgv.2_RNA|HTR4_uc003lpo.1_Missense_Mutation_p.T134N	p.T134N	NM_000870	NP_000861	Q13639	5HT4R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	565	-			134			Cytoplasmic (By similarity).		C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Missense_Mutation	SNP	ENST00000377888.3	37	c.401C>A	CCDS4291.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958753	0.92726	.	.	ENSG00000164270	ENST00000521530;ENST00000354217;ENST00000314512;ENST00000521735;ENST00000517929;ENST00000520514;ENST00000377888;ENST00000360693;ENST00000362016	T;T;T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02	5.64	5.64	0.86602	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.66684	0.2814	M	0.74647	2.275	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D	0.83275	0.996;0.99;0.988;0.987;0.992;0.992;0.996	T	0.68941	-0.5276	10	0.72032	D	0.01	.	18.2812	0.90098	0.0:0.0:1.0:0.0	.	134;134;134;134;134;134;134	C4WYH4;Q13639;Q712M9;Q13639-6;Q13639-3;Q13639-2;Q684M0	.;5HT4R_HUMAN;.;.;.;.;.	N	134	ENSP00000428320:T134N;ENSP00000346156:T134N;ENSP00000314906:T134N;ENSP00000430979:T134N;ENSP00000435904:T134N;ENSP00000427913:T134N;ENSP00000367120:T134N;ENSP00000353915:T134N;ENSP00000355037:T134N	ENSP00000314906:T134N	T	-	2	0	HTR4	147883055	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.653000	0.90120	0.655000	0.94253	ACC		PASS	0.498	HTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252187.2	NM_000870		19	30	19	30	---	---	---	---
ITK	3702	broad.mit.edu	37	5	156607999	156607999	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr5:156607999T>C	ENST00000422843.3	+	1	163	c.11T>C	c.(10-12)tTt>tCt	p.F4S		NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	4	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.F4S(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	ATGAACAACTTTATCCTCCTG	0.443			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)	uc003lwo.1				Dom	yes		5	5q31-q32	3702	T	IL2-inducible T-cell kinase			L	SYK		peripheral T-cell lymphoma		1	Substitution - Missense(1)		lung(1)	lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1)	26						c.(10-12)TTT>TCT		IL2-inducible T-cell kinase							85.0	79.0	81.0					5																	156607999		2203	4300	6503	SO:0001583	missense	3702				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr5:156607999T>C	D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.11T>C	5.37:g.156607999T>C	ENSP00000398655:p.Phe4Ser						p.F4S	NM_005546	NP_005537	Q08881	ITK_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	93	+	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	4			PH.		B2R752|Q32ML7	Missense_Mutation	SNP	ENST00000422843.3	37	c.11T>C	CCDS4336.1	.	.	.	.	.	.	.	.	.	.	T	8.780	0.927952	0.18056	.	.	ENSG00000113263	ENST00000422843	T	0.74002	-0.8	5.27	-3.34	0.04943	Pleckstrin homology domain (1);	0.468333	0.24833	N	0.035234	T	0.43277	0.1240	N	0.14661	0.345	0.31692	N	0.641795	B	0.02656	0.0	B	0.01281	0.0	T	0.25813	-1.0121	10	0.10636	T	0.68	.	2.5572	0.04763	0.1118:0.3232:0.3253:0.2397	.	4	Q08881	ITK_HUMAN	S	4	ENSP00000398655:F4S	ENSP00000398655:F4S	F	+	2	0	ITK	156540577	0.786000	0.28738	0.873000	0.34254	0.992000	0.81027	0.264000	0.18497	-0.147000	0.11254	0.533000	0.62120	TTT		PASS	0.443	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2			31	48	31	48	---	---	---	---
SCGN	10590	broad.mit.edu	37	6	25669792	25669792	+	Silent	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr6:25669792C>A	ENST00000377961.2	+	5	558	c.390C>A	c.(388-390)ctC>ctA	p.L130L	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	130	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.L130L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CTGCTGAGCTCCGCGTGAGTG	0.413																																						uc003nfb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(388-390)CTC>CTA		secretagogin precursor							138.0	134.0	135.0					6																	25669792		2203	4300	6503	SO:0001819	synonymous_variant	10590					extracellular region|transport vesicle membrane	calcium ion binding	g.chr6:25669792C>A	BC000336	CCDS4561.1	6p22.3-p22.1	2013-01-10			ENSG00000079689	ENSG00000079689		"""EF-hand domain containing"""	16941	protein-coding gene	gene with protein product	"""calbindin-like"""	609202				10811645	Standard	NM_006998		Approved	SECRET, DJ501N12.8, SEGN, CALBL	uc003nfb.3	O76038	OTTHUMG00000014409	ENST00000377961.2:c.390C>A	6.37:g.25669792C>A						SCGN_uc010jpz.2_Missense_Mutation_p.S40Y	p.L130L	NM_006998	NP_008929	O76038	SEGN_HUMAN			5	593	+			130			EF-hand 3.		A8K0B2|Q5VV44|Q96QV7|Q9UJF6	Silent	SNP	ENST00000377961.2	37	c.390C>A	CCDS4561.1																																																																																				PASS	0.413	SCGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040067.1			23	101	23	101	---	---	---	---
SLC17A4	10050	broad.mit.edu	37	6	25778227	25778228	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr6:25778227_25778228GG>AT	ENST00000377905.4	+	11	1461_1462	c.1342_1343GG>AT	c.(1342-1344)GGa>ATa	p.G448I	SLC17A4_ENST00000397076.2_3'UTR|SLC17A4_ENST00000439485.2_Missense_Mutation_p.G218I	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	448					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)	p.G448R(1)|p.G448I(1)|p.G448V(1)		breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TACTGCTGCTGGATTTTTCATC	0.416																																						uc003nfe.2																			3	Substitution - Missense(3)		lung(3)	skin(1)	1						c.(1342-1344)GGA>AGA|c.(1342-1344)GGA>GTA		solute carrier family 17 (sodium phosphate),																																				SO:0001583	missense	10050				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25778227G>A|g.chr6:25778228G>T	AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"""Solute carriers"""	10932	protein-coding gene	gene with protein product		604216	"""solute carrier family 17 (sodium phosphate), member 4"""			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	Exception_encountered	6.37:g.25778227_25778228delinsAT	ENSP00000367137:p.Gly448Ile					SLC17A4_uc011djx.1_Missense_Mutation_p.G218R|SLC17A4_uc003nfg.2_Missense_Mutation_p.G385R|SLC17A4_uc010jqa.2_Nonsense_Mutation_p.W67*|SLC17A4_uc011djx.1_Missense_Mutation_p.G218V|SLC17A4_uc003nfg.2_Missense_Mutation_p.G385V|SLC17A4_uc010jqa.2_Missense_Mutation_p.W67C	p.G448R|p.G448V	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN			11	1461|1462	+			448			Helical; (Potential).		B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Missense_Mutation	SNP	ENST00000377905.4	37	c.1342G>A|c.1343G>T	CCDS4564.1																																																																																				PASS	0.416	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040068.1			18	86	18	86	---	---	---	---
TRIM38	10475	broad.mit.edu	37	6	25983845	25983845	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr6:25983845C>G	ENST00000357085.3	+	8	1804	c.1328C>G	c.(1327-1329)tCt>tGt	p.S443C	TRIM38_ENST00000349458.3_Missense_Mutation_p.S443C|U91328.21_ENST00000608931.1_RNA	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	443	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.S443C(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						GCTTCCTTCTCTGATACTCTC	0.463																																						uc003nfm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1327-1329)TCT>TGT		tripartite motif-containing 38							70.0	70.0	70.0					6																	25983845		2203	4300	6503	SO:0001583	missense	10475				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding	g.chr6:25983845C>G	U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10059	protein-coding gene	gene with protein product			"""ring finger protein 15"", ""tripartite motif-containing 38"""	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.1328C>G	6.37:g.25983845C>G	ENSP00000349596:p.Ser443Cys					TRIM38_uc003nfn.2_Missense_Mutation_p.S425C|TRIM38_uc010jqd.2_Missense_Mutation_p.S79C	p.S443C	NM_006355	NP_006346	O00635	TRI38_HUMAN			8	1763	+			443			B30.2/SPRY.		B2R862	Missense_Mutation	SNP	ENST00000357085.3	37	c.1328C>G	CCDS4568.1	.	.	.	.	.	.	.	.	.	.	c	12.80	2.045728	0.36085	.	.	ENSG00000112343	ENST00000540262;ENST00000349458;ENST00000357085	T;T;T	0.64085	-0.08;-0.08;-0.08	3.98	0.0805	0.14421	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.502444	0.17305	N	0.179093	T	0.38241	0.1033	M	0.78344	2.41	0.09310	N	1	B;B	0.30146	0.27;0.27	B;B	0.31016	0.123;0.123	T	0.42015	-0.9476	10	0.72032	D	0.01	.	4.128	0.10136	0.1486:0.4737:0.2892:0.0885	.	443;443	B2R862;O00635	.;TRI38_HUMAN	C	443	ENSP00000443976:S443C;ENSP00000230099:S443C;ENSP00000349596:S443C	ENSP00000230099:S443C	S	+	2	0	TRIM38	26091824	0.000000	0.05858	0.047000	0.18901	0.703000	0.40648	-0.013000	0.12678	-0.011000	0.14247	-0.165000	0.13383	TCT		PASS	0.463	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040076.2			32	65	32	65	---	---	---	---
HFE	3077	broad.mit.edu	37	6	26093020	26093020	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr6:26093020G>T	ENST00000357618.5	+	4	846	c.724G>T	c.(724-726)Gat>Tat	p.D242Y	HFE_ENST00000309234.6_Missense_Mutation_p.D242Y|HFE_ENST00000470149.1_Missense_Mutation_p.D239Y|HFE_ENST00000352392.4_Intron|HFE_ENST00000461397.1_Missense_Mutation_p.D228Y|HFE_ENST00000353147.5_Missense_Mutation_p.D62Y|HFE_ENST00000488199.1_Missense_Mutation_p.D140Y|HFE_ENST00000336625.8_Missense_Mutation_p.D136Y|HFE_ENST00000397022.3_Missense_Mutation_p.D219Y|HFE_ENST00000317896.7_Missense_Mutation_p.D150Y|HFE_ENST00000349999.4_Missense_Mutation_p.D154Y	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	242	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular iron ion homeostasis (GO:0006879)|cellular response to iron ion starvation (GO:0010106)|female pregnancy (GO:0007565)|hormone biosynthetic process (GO:0042446)|immune response (GO:0006955)|iron ion import into cell (GO:0097459)|multicellular organismal iron ion homeostasis (GO:0060586)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein complex assembly (GO:0006461)	apical part of cell (GO:0045177)|basal part of cell (GO:0045178)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|MHC class I protein complex (GO:0042612)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	peptide antigen binding (GO:0042605)|receptor binding (GO:0005102)	p.D242Y(1)		endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTGGCTGAAGGATAAGCAGCC	0.527									Hemochromatosis																													uc003nfx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(724-726)GAT>TAT		hemochromatosis protein isoform 1 precursor							133.0	124.0	127.0					6																	26093020		2203	4300	6503	SO:0001583	missense	3077	Hemochromatosis	Familial Cancer Database		antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding	g.chr6:26093020G>T		CCDS4578.1, CCDS4579.1, CCDS4580.1, CCDS4581.1, CCDS4582.1, CCDS47386.1, CCDS47387.1, CCDS54974.1, CCDS54975.1, CCDS75412.1	6p21.3	2014-09-17			ENSG00000010704	ENSG00000010704		"""Immunoglobulin superfamily / C1-set domain containing"""	4886	protein-coding gene	gene with protein product	"""high Fe"""	613609				3460331	Standard	XR_241893		Approved	HLA-H	uc003nfx.1	Q30201	OTTHUMG00000016348	ENST00000357618.5:c.724G>T	6.37:g.26093020G>T	ENSP00000417404:p.Asp242Tyr					HFE_uc003nfy.1_Missense_Mutation_p.D219Y|HFE_uc010jqe.1_Missense_Mutation_p.D239Y|HFE_uc003nfz.1_Missense_Mutation_p.D154Y|HFE_uc003ngd.1_Missense_Mutation_p.D140Y|HFE_uc003nga.1_Missense_Mutation_p.D228Y|HFE_uc003ngb.1_Missense_Mutation_p.D136Y|HFE_uc003ngc.1_Missense_Mutation_p.D150Y|HFE_uc003nge.1_Missense_Mutation_p.D62Y|HFE_uc003ngf.1_Intron	p.D242Y	NM_000410	NP_000401	Q30201	HFE_HUMAN			4	884	+			242			Alpha-3.|Ig-like C1-type.|Extracellular (Potential).		B2CKL0|O75929|O75930|O75931|Q17RT0|Q96KU5|Q96KU6|Q96KU7|Q96KU8|Q9HC64|Q9HC68|Q9HC70|Q9HC83	Missense_Mutation	SNP	ENST00000357618.5	37	c.724G>T	CCDS4578.1	.	.	.	.	.	.	.	.	.	.	.	15.23	2.770748	0.49680	.	.	ENSG00000010704	ENST00000349999;ENST00000397022;ENST00000317896;ENST00000353147;ENST00000357618;ENST00000470149;ENST00000336625;ENST00000461397;ENST00000488199;ENST00000309234	T;T;T;T;T;T;T;T;T;T	0.03524	3.9;3.9;3.9;3.9;3.9;3.9;3.9;3.9;3.9;3.9	5.35	5.35	0.76521	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	T	0.18467	0.0443	M	0.92649	3.33	0.53688	D	0.999977	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.999;1.0;1.0;0.999;1.0;0.979;0.999	T	0.00595	-1.1653	10	0.87932	D	0	.	14.7506	0.69522	0.0:0.0:1.0:0.0	.	239;62;140;150;136;228;154;219;242	Q6B0J5;Q30201-6;Q30201-4;Q30201-7;Q30201-10;Q30201-3;Q30201-2;Q30201-5;Q30201	.;.;.;.;.;.;.;.;HFE_HUMAN	Y	154;219;150;62;242;239;136;228;140;242	ENSP00000259699:D154Y;ENSP00000380217:D219Y;ENSP00000313776:D150Y;ENSP00000312342:D62Y;ENSP00000417404:D242Y;ENSP00000419725:D239Y;ENSP00000337819:D136Y;ENSP00000420802:D228Y;ENSP00000420559:D140Y;ENSP00000311698:D242Y	ENSP00000311698:D242Y	D	+	1	0	HFE	26200999	1.000000	0.71417	0.945000	0.38365	0.022000	0.10575	2.233000	0.43027	2.941000	0.99782	0.655000	0.94253	GAT		PASS	0.527	HFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356133.1			25	59	25	59	---	---	---	---
ZBED9	114821	broad.mit.edu	37	6	28542454	28542454	+	Silent	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr6:28542454C>A	ENST00000452236.2	-	3	2645	c.2028G>T	c.(2026-2028)ggG>ggT	p.G676G	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1												p.G676G(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						AAAATGGTGTCCCTGATGGCT	0.408																																						uc003nlo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2026-2028)GGG>GGT		SCAN domain containing 3							166.0	169.0	168.0					6																	28542454		2203	4300	6503	SO:0001819	synonymous_variant	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28542454C>A																												ENST00000452236.2:c.2028G>T	6.37:g.28542454C>A							p.G676G	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN			3	2646	-			676						Silent	SNP	ENST00000452236.2	37	c.2028G>T	CCDS34355.1																																																																																				PASS	0.408	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			79	173	79	173	---	---	---	---
MOG	4340	broad.mit.edu	37	6	29640952	29640952	+	IGR	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr6:29640952C>T	ENST00000376917.3	+	0	2160				ZFP57_ENST00000376881.3_Silent_p.Q292Q|ZFP57_ENST00000376883.1_Silent_p.Q292Q|ZFP57_ENST00000488757.1_Silent_p.Q312Q	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q292Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGATGGACCTCTGGCTTCTGG	0.542																																						uc011dlw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)	5						c.(934-936)CAG>CAA		zinc finger protein 57 homolog							127.0	136.0	133.0					6																	29640952		1209	2518	3727	SO:0001628	intergenic_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29640952C>T		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29640952C>T						ZFP57_uc003nnl.3_Silent_p.Q292Q	p.Q312Q	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN			4	1087	-			228					A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Silent	SNP	ENST00000376917.3	37	c.936G>A	CCDS34370.1																																																																																				PASS	0.542	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		23	151	23	151	---	---	---	---
TRIM39	56658	broad.mit.edu	37	6	30309598	30309598	+	Silent	SNP	A	A	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr6:30309598A>T	ENST00000396547.1	+	8	1279	c.1119A>T	c.(1117-1119)ccA>ccT	p.P373P	TRIM39_ENST00000396551.3_Silent_p.P343P|TRIM39_ENST00000396548.1_Silent_p.P343P|TRIM39_ENST00000540416.1_Silent_p.P343P|TRIM39_ENST00000376656.4_Silent_p.P373P|TRIM39_ENST00000376659.5_Silent_p.P343P|TRIM39-RPP21_ENST00000513556.1_Silent_p.P255P			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	373	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.P373P(1)		ovary(3)	3						CTGACACACCAAGGCGTTTCA	0.577																																						uc010jrz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1117-1119)CCA>CCT		tripartite motif-containing 39 isoform 1							129.0	82.0	99.0					6																	30309598		1511	2709	4220	SO:0001819	synonymous_variant	56658				apoptosis	cytosol|mitochondrion	identical protein binding|zinc ion binding	g.chr6:30309598A>T	BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10065	protein-coding gene	gene with protein product		605700	"""ring finger protein 23"", ""tripartite motif-containing 39"""	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.1119A>T	6.37:g.30309598A>T						TRIM39_uc003npz.2_Silent_p.P343P|TRIM39_uc003nqb.2_Silent_p.P343P|TRIM39_uc003nqc.2_Silent_p.P343P|TRIM39_uc010jsa.1_Silent_p.P343P	p.P373P	NM_021253	NP_067076	Q9HCM9	TRI39_HUMAN			9	1431	+			373			B30.2/SPRY.		Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Silent	SNP	ENST00000396547.1	37	c.1119A>T	CCDS34377.1																																																																																				PASS	0.577	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	NM_172016		18	29	18	29	---	---	---	---
HLA-DOA	3111	broad.mit.edu	37	6	32975108	32975108	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr6:32975108G>T	ENST00000229829.5	-	3	668	c.593C>A	c.(592-594)gCg>gAg	p.A198E	HLA-DOA_ENST00000450833.2_Missense_Mutation_p.A168E|HLA-DOA_ENST00000495532.1_5'Flank	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	198	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)	p.A198V(1)|p.A198E(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GAGGAGTGGCGCATCCAGGCC	0.592																																						uc003ocr.2																			2	Substitution - Missense(2)		lung(1)|prostate(1)		0						c.(592-594)GCG>GAG		major histocompatibility complex, class II, DO							94.0	109.0	104.0					6																	32975108		1511	2709	4220	SO:0001583	missense	3111				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32975108G>T	M31525	CCDS4763.1	6p21.3	2013-01-11		2001-10-05	ENSG00000204252	ENSG00000204252		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4936	protein-coding gene	gene with protein product		142930		HLA-DZA, HLA-DNA		2370084	Standard	XM_005272804		Approved	HLA-D0-alpha	uc003ocr.3	P06340	OTTHUMG00000031211	ENST00000229829.5:c.593C>A	6.37:g.32975108G>T	ENSP00000229829:p.Ala198Glu					HLA-DOA_uc010juj.2_Missense_Mutation_p.A168E|HLA-DOA_uc010jui.2_Missense_Mutation_p.A198E	p.A198E	NM_002119	NP_002110	P06340	DOA_HUMAN			3	669	-			198			Extracellular (Potential).|Alpha-2.|Ig-like C1-type.		Q58HU0|Q58HU1|Q5STC7|Q9TQC6|Q9TQC7|Q9TQC8|Q9TQC9|Q9TQD0|Q9TQD1|Q9TQD2|Q9TQD3	Missense_Mutation	SNP	ENST00000229829.5	37	c.593C>A	CCDS4763.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.305444	0.00240	.	.	ENSG00000204252	ENST00000229829;ENST00000450833	T;T	0.02498	4.27;4.27	4.51	-8.04	0.01110	Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.542140	0.03688	N	0.246555	T	0.00178	0.0005	N	0.00075	-2.25	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.09377	0.004;0.002	T	0.50363	-0.8837	10	0.02654	T	1	.	8.826	0.35054	0.0:0.3248:0.4968:0.1784	.	168;198	B4DW77;P06340	.;DOA_HUMAN	E	198;168	ENSP00000229829:A198E;ENSP00000403896:A168E	ENSP00000229829:A198E	A	-	2	0	HLA-DOA	33083086	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.374000	0.07484	-1.833000	0.01195	-1.051000	0.02340	GCG		PASS	0.592	HLA-DOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076426.2	NM_002119		52	97	52	97	---	---	---	---
COL11A2	1302	broad.mit.edu	37	6	33135240	33135240	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr6:33135240G>T	ENST00000374708.4	-	54	4085	c.3827C>A	c.(3826-3828)cCt>cAt	p.P1276H	COL11A2_ENST00000374714.1_Missense_Mutation_p.P1336H|COL11A2_ENST00000357486.1_Missense_Mutation_p.P1341H|COL11A2_ENST00000341947.2_Missense_Mutation_p.P1362H|COL11A2_ENST00000395197.1_Missense_Mutation_p.P1302H|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000361917.1_Missense_Mutation_p.P1255H|COL11A2_ENST00000374713.1_Missense_Mutation_p.P1315H|COL11A2_ENST00000374712.1_Missense_Mutation_p.P1281H	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1362	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.P1362H(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ATCAGGGCCAGGTTTCCCTGC	0.647																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(4084-4086)CCT>CAT		collagen, type XI, alpha 2 isoform 1							32.0	31.0	32.0					6																	33135240		1510	2709	4219	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33135240G>T	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.3827C>A	6.37:g.33135240G>T	ENSP00000363840:p.Pro1276His					COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.P1276H|COL11A2_uc003ocz.1_Missense_Mutation_p.P1255H	p.P1362H	NM_080680	NP_542411	P13942	COBA2_HUMAN			56	4313	-			1362			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.4085C>A	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420575	0.62622	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.96774	-4.12;-4.12;-4.12;-4.12;-4.12;-4.12;-4.12;-4.12	4.09	3.22	0.36961	.	0.215951	0.39475	N	0.001357	D	0.93304	0.7866	L	0.54965	1.715	0.49483	D	0.999791	D;D;D	0.65815	0.986;0.995;0.992	P;P;P	0.52881	0.712;0.712;0.655	D	0.92091	0.5680	10	0.56958	D	0.05	.	4.8205	0.13389	0.1106:0.0:0.6777:0.2117	.	1255;1276;1362	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	H	1276;1362;1341;1336;1315;1302;1281;1255	ENSP00000363840:P1276H;ENSP00000339915:P1362H;ENSP00000350079:P1341H;ENSP00000363846:P1336H;ENSP00000363845:P1315H;ENSP00000378623:P1302H;ENSP00000363844:P1281H;ENSP00000355123:P1255H	ENSP00000339915:P1362H	P	-	2	0	COL11A2	33243218	1.000000	0.71417	0.963000	0.40424	0.833000	0.47200	5.227000	0.65305	0.940000	0.37473	0.442000	0.29010	CCT		PASS	0.647	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			13	42	13	42	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38818172	38818172	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr6:38818172G>A	ENST00000359357.3	+	36	4948	c.4694G>A	c.(4693-4695)tGt>tAt	p.C1565Y	DNAH8_ENST00000449981.2_Missense_Mutation_p.C1782Y|DNAH8_ENST00000441566.1_Missense_Mutation_p.C1565Y			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1565					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.C1565Y(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTGGAAGTATGTCAGAAGTCA	0.363																																						uc003ooe.1																			2	Substitution - Missense(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(4693-4695)TGT>TAT		dynein, axonemal, heavy polypeptide 8							120.0	114.0	116.0					6																	38818172		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38818172G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4694G>A	6.37:g.38818172G>A	ENSP00000352312:p.Cys1565Tyr						p.C1565Y	NM_001371	NP_001362					36	5294	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.4694G>A		.	.	.	.	.	.	.	.	.	.	G	23.8	4.454023	0.84209	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.63255	-0.03;-0.03;-0.03	5.66	5.66	0.87406	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	D	0.86744	0.6006	H	0.97874	4.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91157	0.4958	10	0.87932	D	0	.	19.7532	0.96277	0.0:0.0:1.0:0.0	.	1565	Q96JB1	DYH8_HUMAN	Y	1770;1770;1565;1565	ENSP00000333363:C1770Y;ENSP00000352312:C1565Y;ENSP00000402294:C1565Y	ENSP00000333363:C1770Y	C	+	2	0	DNAH8	38926150	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.671000	0.98627	2.682000	0.91365	0.650000	0.86243	TGT		PASS	0.363	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		14	89	14	89	---	---	---	---
ABCC10	89845	broad.mit.edu	37	6	43400087	43400087	+	Silent	SNP	A	A	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr6:43400087A>G	ENST00000372530.4	+	3	584	c.369A>G	c.(367-369)gcA>gcG	p.A123A	ABCC10_ENST00000244533.3_Silent_p.A80A|ABCC10_ENST00000443426.2_Intron	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	123					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.A80A(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GGGTGTTGGCACATTCCCCTC	0.662																																						uc003ouy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|central_nervous_system(1)	7						c.(367-369)GCA>GCG		ATP-binding cassette, sub-family C, member 10							63.0	61.0	62.0					6																	43400087		2203	4300	6503	SO:0001819	synonymous_variant	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43400087A>G	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.369A>G	6.37:g.43400087A>G						ABCC10_uc003ouz.1_Silent_p.A80A	p.A123A	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		3	584	+	all_lung(25;0.00536)		123					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	ENST00000372530.4	37	c.369A>G	CCDS56430.1																																																																																				PASS	0.662	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		11	45	11	45	---	---	---	---
MUT	4594	broad.mit.edu	37	6	49403260	49403260	+	Missense_Mutation	SNP	T	T	C	rs147094927		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr6:49403260T>C	ENST00000274813.3	-	12	2160	c.2033A>G	c.(2032-2034)cAt>cGt	p.H678R		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	678	B12-binding. {ECO:0000255|PROSITE- ProRule:PRU00666}.		H -> R (in MMAM; mut-). {ECO:0000269|PubMed:16281286, ECO:0000269|PubMed:9285782}.		cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)	p.H678R(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TAGGGTTTTATGACCAGCAGC	0.483																																						uc003ozg.3																			1	Substitution - Missense(1)		lung(1)		0	GRCh37	CM971005	MUT	M	rs147094927	c.(2032-2034)CAT>CGT		methylmalonyl Coenzyme A mutase precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	T	ARG/HIS	1,4405	2.1+/-5.4	0,1,2202	97.0	77.0	84.0		2033	4.6	0.6	6	dbSNP_134	84	0,8600		0,0,4300	no	missense	MUT	NM_000255.3	29	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging	678/751	49403260	1,13005	2203	4300	6503	SO:0001583	missense	4594				fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	g.chr6:49403260T>C		CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"""methylmalonyl Coenzyme A mutase"""			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.2033A>G	6.37:g.49403260T>C	ENSP00000274813:p.His678Arg						p.H678R	NM_000255	NP_000246	P22033	MUTA_HUMAN			12	2288	-	Lung NSC(77;0.0376)		678		H -> R (in MMAM; mut-).	B12-binding.		A8K953|Q5SYZ3|Q96B11|Q9UD64	Missense_Mutation	SNP	ENST00000274813.3	37	c.2033A>G	CCDS4924.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.073159	0.76415	2.27E-4	0.0	ENSG00000146085	ENST00000274813;ENST00000540138	D	0.95821	-3.82	5.78	4.62	0.57501	Cobalamin (vitamin B12)-binding (4);Methylmalonyl-CoA mutase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98573	0.9523	H	0.99498	4.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98408	1.0571	10	0.87932	D	0	-16.3968	11.0876	0.48097	0.0:0.0724:0.0:0.9276	.	678	P22033	MUTA_HUMAN	R	678;125	ENSP00000274813:H678R	ENSP00000274813:H678R	H	-	2	0	MUT	49511219	1.000000	0.71417	0.620000	0.29132	0.837000	0.47467	7.698000	0.84413	1.015000	0.39444	0.454000	0.30748	CAT		PASS	0.483	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1			11	53	11	53	---	---	---	---
CRISP1	167	broad.mit.edu	37	6	49806193	49806193	+	Silent	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr6:49806193G>A	ENST00000335847.4	-	7	680	c.579C>T	c.(577-579)gtC>gtT	p.V193V	CRISP1_ENST00000505118.1_Silent_p.V193V|CRISP1_ENST00000329411.5_Intron|CRISP1_ENST00000536021.1_Intron|CRISP1_ENST00000355791.2_Silent_p.V193V|CRISP1_ENST00000507853.1_Intron	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	193					binding of sperm to zona pellucida (GO:0007339)|fusion of sperm to egg plasma membrane (GO:0007342)|regulation of acrosome reaction (GO:0060046)	extracellular space (GO:0005615)|nucleus (GO:0005634)	calcium channel regulator activity (GO:0005246)	p.V193V(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					CTTCACATGGGACGCCTGTCT	0.363																																						uc003ozw.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(577-579)GTC>GTT		acidic epididymal glycoprotein-like 1 isoform 1							181.0	173.0	176.0					6																	49806193		2203	4300	6503	SO:0001819	synonymous_variant	167				fusion of sperm to egg plasma membrane	extracellular space		g.chr6:49806193G>A	D38451	CCDS4931.1, CCDS4932.1	6p21.2-p21.1	2008-02-05	2003-09-03	2003-09-05	ENSG00000124812	ENSG00000124812			304	protein-coding gene	gene with protein product		601193	"""acidic epididymal glycoprotein-like 1"""	AEGL1		8838800	Standard	NM_001131		Approved	CRISP-1, ARP, HUMARP, HSCRISP1D, HSCRISP1G	uc003ozw.2	P54107	OTTHUMG00000014827	ENST00000335847.4:c.579C>T	6.37:g.49806193G>A						CRISP1_uc003ozx.2_Intron	p.V193V	NM_001131	NP_001122	P54107	CRIS1_HUMAN			7	658	-	Lung NSC(77;0.0358)		193					B5BU98|O00698|Q13248|Q14082|Q96SF6	Silent	SNP	ENST00000335847.4	37	c.579C>T	CCDS4931.1																																																																																				PASS	0.363	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040875.2	NM_001131		59	104	59	104	---	---	---	---
GSTA5	221357	broad.mit.edu	37	6	52701091	52701091	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr6:52701091A>G	ENST00000370989.2	-	3	244	c.215T>C	c.(214-216)cTt>cCt	p.L72P	GSTA5_ENST00000284562.2_Missense_Mutation_p.L72P|GSTA5_ENST00000475052.1_Intron			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	72	GST N-terminal.				glutathione metabolic process (GO:0006749)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.L72P(1)		endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	AATGTAGTTAAGAATGGCTCT	0.428																																						uc003pba.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(214-216)CTT>CCT		glutathione S-transferase alpha 5	Glutathione(DB00143)						166.0	167.0	167.0					6																	52701091		2203	4300	6503	SO:0001583	missense	221357				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52701091A>G	BK000212	CCDS4946.1	6p12.2	2012-06-21	2008-11-26		ENSG00000182793	ENSG00000182793	2.5.1.18	"""Glutathione S-transferases / Soluble"""	19662	protein-coding gene	gene with protein product		607605	"""glutathione S-transferase A5"""			12042665	Standard	NM_153699		Approved		uc003pba.1	Q7RTV2	OTTHUMG00000014857	ENST00000370989.2:c.215T>C	6.37:g.52701091A>G	ENSP00000360028:p.Leu72Pro						p.L72P	NM_153699	NP_714543	Q7RTV2	GSTA5_HUMAN			4	285	-	Lung NSC(77;0.0912)		72			GST N-terminal.		Q5SZC2	Missense_Mutation	SNP	ENST00000370989.2	37	c.215T>C	CCDS4946.1	.	.	.	.	.	.	.	.	.	.	A	14.54	2.564652	0.45694	.	.	ENSG00000182793	ENST00000370989;ENST00000284562	T;T	0.08370	3.1;3.1	2.63	2.63	0.31362	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.000000	0.64402	D	0.000001	T	0.32645	0.0836	H	0.98388	4.22	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.52586	-0.8556	10	0.87932	D	0	.	10.5377	0.45013	1.0:0.0:0.0:0.0	.	72	Q7RTV2	GSTA5_HUMAN	P	72	ENSP00000360028:L72P;ENSP00000284562:L72P	ENSP00000284562:L72P	L	-	2	0	GSTA5	52809050	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	5.340000	0.65958	1.193000	0.43086	0.172000	0.16884	CTT		PASS	0.428	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040917.1	NM_153699		99	154	99	154	---	---	---	---
GFRAL	389400	broad.mit.edu	37	6	55216328	55216328	+	Silent	SNP	A	A	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr6:55216328A>G	ENST00000340465.2	+	5	734	c.648A>G	c.(646-648)ccA>ccG	p.P216P		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	216					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P216P(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACATGGTTCCACCCCCTACTT	0.438																																						uc003pcm.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(646-648)CCA>CCG		GDNF family receptor alpha like precursor							88.0	89.0	88.0					6																	55216328		2203	4300	6503	SO:0001819	synonymous_variant	389400					integral to membrane	receptor activity	g.chr6:55216328A>G	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.648A>G	6.37:g.55216328A>G							p.P216P	NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		5	734	+	Lung NSC(77;0.0875)|Renal(3;0.122)		216			Extracellular (Potential).		Q5VTF6	Silent	SNP	ENST00000340465.2	37	c.648A>G	CCDS4957.1																																																																																				PASS	0.438	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410		11	69	11	69	---	---	---	---
IMPG1	3617	broad.mit.edu	37	6	76712684	76712684	+	Silent	SNP	A	A	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr6:76712684A>G	ENST00000369950.3	-	12	1431	c.1242T>C	c.(1240-1242)ccT>ccC	p.P414P	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.P414P(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GGGGTTCAACAGGAGGAAGTT	0.438																																					Pancreas(37;839 1141 2599 26037)	uc003pik.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1240-1242)CCT>CCC		interphotoreceptor matrix proteoglycan 1							118.0	106.0	110.0					6																	76712684		2203	4300	6503	SO:0001819	synonymous_variant	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76712684A>G	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1242T>C	6.37:g.76712684A>G							p.P414P	NM_001563	NP_001554	Q17R60	IMPG1_HUMAN			12	1372	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	414						Silent	SNP	ENST00000369950.3	37	c.1242T>C	CCDS4985.1																																																																																				PASS	0.438	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		12	36	12	36	---	---	---	---
LAMA4	3910	broad.mit.edu	37	6	112508764	112508764	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr6:112508764C>T	ENST00000230538.7	-	8	1251	c.854G>A	c.(853-855)cGg>cAg	p.R285Q	LAMA4_ENST00000389463.4_Missense_Mutation_p.R278Q|LAMA4_ENST00000424408.2_Missense_Mutation_p.R278Q|LAMA4_ENST00000522006.1_Missense_Mutation_p.R278Q	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	285	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.R278Q(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CGCTGCTAACCGCAGTGCATC	0.537																																						uc003pvu.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(853-855)CGG>CAG		laminin, alpha 4 isoform 1 precursor							78.0	64.0	69.0					6																	112508764		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112508764C>T		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.854G>A	6.37:g.112508764C>T	ENSP00000230538:p.Arg285Gln					LAMA4_uc003pvv.2_Missense_Mutation_p.R278Q|LAMA4_uc003pvt.2_Missense_Mutation_p.R278Q	p.R285Q	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	8	1163	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	285			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.854G>A	CCDS43491.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.8|24.8	4.576317|4.576317	0.86645|0.86645	.|.	.|.	ENSG00000112769|ENSG00000112769	ENST00000368640|ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000454881;ENST00000521398;ENST00000542588	.|T;T;T;T;T	.|0.27256	.|2.6;2.63;2.63;2.63;1.68	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	.|0.124420	.|0.51477	.|D	.|0.000099	T|T	0.29423|0.29423	0.0733|0.0733	L|L	0.52573|0.52573	1.65|1.65	0.80722|0.80722	D|D	1|1	.|D;D	.|0.67145	.|0.994;0.996	.|P;P	.|0.54174	.|0.559;0.744	T|T	0.00331|0.00331	-1.1811|-1.1811	5|10	.|0.28530	.|T	.|0.3	.|.	20.2822|20.2822	0.98520|0.98520	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|285;278	.|Q16363;Q16363-2	.|LAMA4_HUMAN;.	S|Q	89|285;278;278;278;285;285;278	.|ENSP00000230538:R285Q;ENSP00000429488:R278Q;ENSP00000374114:R278Q;ENSP00000416470:R278Q;ENSP00000430336:R285Q	.|ENSP00000230538:R285Q	G|R	-|-	1|2	0|0	LAMA4|LAMA4	112615457|112615457	0.892000|0.892000	0.30473|0.30473	0.965000|0.965000	0.40720|0.40720	0.558000|0.558000	0.35554|0.35554	1.735000|1.735000	0.38176|0.38176	2.806000|2.806000	0.96561|0.96561	0.655000|0.655000	0.94253|0.94253	GGT|CGG		PASS	0.537	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		6	35	6	35	---	---	---	---
RFX6	222546	broad.mit.edu	37	6	117237460	117237460	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr6:117237460G>T	ENST00000332958.2	+	9	971	c.955G>T	c.(955-957)Gac>Tac	p.D319Y	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	319					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.D319Y(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CTGTGTTTGTGACTCAATTCT	0.348																																						uc003pxm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(955-957)GAC>TAC		regulatory factor X, 6							128.0	124.0	125.0					6																	117237460		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117237460G>T	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.955G>T	6.37:g.117237460G>T	ENSP00000332208:p.Asp319Tyr						p.D319Y	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			9	1018	+			319					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.955G>T	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462381	0.84425	.	.	ENSG00000185002	ENST00000332958	D	0.84730	-1.89	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.92857	0.7728	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93314	0.6687	10	0.87932	D	0	-20.3917	19.6354	0.95731	0.0:0.0:1.0:0.0	.	319	Q8HWS3	RFX6_HUMAN	Y	319	ENSP00000332208:D319Y	ENSP00000332208:D319Y	D	+	1	0	RFX6	117344153	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.476000	0.97823	2.641000	0.89580	0.591000	0.81541	GAC		PASS	0.348	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		52	97	52	97	---	---	---	---
ROS1	6098	broad.mit.edu	37	6	117710802	117710802	+	Silent	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr6:117710802G>A	ENST00000368508.3	-	12	1668	c.1470C>T	c.(1468-1470)atC>atT	p.I490I	ROS1_ENST00000368507.3_Silent_p.I499I|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	490					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.I490I(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGCGAGGTAGGATGAGATGGG	0.433			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		2	Substitution - coding silent(2)		lung(2)	lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(1468-1470)ATC>ATT		proto-oncogene c-ros-1 protein precursor							99.0	81.0	87.0					6																	117710802		2203	4300	6503	SO:0001819	synonymous_variant	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117710802G>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.1470C>T	6.37:g.117710802G>A						ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	p.I490I	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	12	1669	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	490			Extracellular (Potential).		Q15368|Q5TDB5	Silent	SNP	ENST00000368508.3	37	c.1470C>T	CCDS5116.1																																																																																				PASS	0.433	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			5	58	5	58	---	---	---	---
MAN1A1	4121	broad.mit.edu	37	6	119669750	119669750	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr6:119669750G>T	ENST00000368468.3	-	2	922	c.481C>A	c.(481-483)Cag>Aag	p.Q161K	MAN1A1_ENST00000368466.2_Missense_Mutation_p.Q161K	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	161					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.Q161K(2)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TCACGCAGCTGGTCCTGGGCC	0.667																																					Ovarian(136;8 1825 12608 33541 47587)	uc003pym.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(481-483)CAG>AAG		mannosidase, alpha, class 1A, member 1							65.0	68.0	67.0					6																	119669750		2203	4300	6503	SO:0001583	missense	4121				post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr6:119669750G>T	AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.481C>A	6.37:g.119669750G>T	ENSP00000357453:p.Gln161Lys					MAN1A1_uc010kei.1_Missense_Mutation_p.Q161K	p.Q161K	NM_005907	NP_005898	P33908	MA1A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)	2	923	-		all_epithelial(87;0.173)	161			Lumenal (Potential).		E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	ENST00000368468.3	37	c.481C>A	CCDS5122.1	.	.	.	.	.	.	.	.	.	.	G	4.932	0.173207	0.09391	.	.	ENSG00000111885	ENST00000368468;ENST00000368466	T;T	0.75704	-0.52;-0.96	5.24	1.99	0.26369	.	0.593093	0.17445	N	0.174000	T	0.36220	0.0959	L	0.34521	1.04	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.002	T	0.10613	-1.0622	9	.	.	.	-5.1834	4.1856	0.10397	0.0843:0.2122:0.5063:0.1971	.	161;161	Q6P052;P33908	.;MA1A1_HUMAN	K	161	ENSP00000357453:Q161K;ENSP00000357451:Q161K	.	Q	-	1	0	MAN1A1	119711449	0.999000	0.42202	1.000000	0.80357	0.989000	0.77384	1.787000	0.38704	1.212000	0.43366	0.455000	0.32223	CAG		PASS	0.667	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1	NM_005907		34	81	34	81	---	---	---	---
THEMIS	387357	broad.mit.edu	37	6	128176332	128176332	+	Splice_Site	SNP	G	G	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr6:128176332G>C	ENST00000368248.2	-	2	241	c.93C>G	c.(91-93)ggC>ggG	p.G31G	THEMIS_ENST00000543064.1_Splice_Site_p.G31G|THEMIS_ENST00000537166.1_5'UTR|THEMIS_ENST00000368250.1_5'UTR	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	31	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G31G(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CATAAATAGAGCCTAAAAGGA	0.284																																						uc003qbi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(91-93)GGC>GGG		thymocyte selection pathway associated isoform							35.0	34.0	35.0					6																	128176332		2201	4297	6498	SO:0001630	splice_region_variant	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128176332G>C	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.92-1C>G	6.37:g.128176332G>C						THEMIS_uc010kfa.2_5'UTR|THEMIS_uc011ebt.1_Silent_p.G31G|THEMIS_uc010kfb.2_5'UTR	p.G31G	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN			3	412	-			31			CABIT 1.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Silent	SNP	ENST00000368248.2	37	c.93C>G	CCDS34534.1																																																																																				PASS	0.284	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923	Silent	21	33	21	33	---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129777610	129777610	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr6:129777610T>C	ENST00000421865.2	+	48	6887	c.6838T>C	c.(6838-6840)Ttt>Ctt	p.F2280L		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2280	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.F2280L(1)|p.V2281fs*12(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGCAATGCTGTTTGTTGGTGG	0.463																																						uc003qbn.2																			2	Substitution - Missense(1)|Insertion - Frameshift(1)		large_intestine(1)|lung(1)	ovary(8)|breast(1)|skin(1)	10						c.(6838-6840)TTT>CTT		laminin alpha 2 subunit isoform a precursor							307.0	257.0	274.0					6																	129777610		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129777610T>C	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.6838T>C	6.37:g.129777610T>C	ENSP00000400365:p.Phe2280Leu					LAMA2_uc003qbo.2_Missense_Mutation_p.F2280L	p.F2280L	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	47	6943	+			2280			Laminin G-like 1.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.6838T>C	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	T	34	5.383170	0.95967	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.78924	-1.22	5.67	5.67	0.87782	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.82660	0.5085	L	0.60067	1.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.82835	-0.0261	9	.	.	.	.	15.9002	0.79369	0.0:0.0:0.0:1.0	.	2281;2280	A6NF00;P24043	.;LAMA2_HUMAN	L	2280;2279;2280;298	ENSP00000400365:F2280L	.	F	+	1	0	LAMA2	129819303	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.380000	0.79704	2.161000	0.67846	0.455000	0.32223	TTT		PASS	0.463	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			103	179	103	179	---	---	---	---
TAAR9	134860	broad.mit.edu	37	6	132859838	132859838	+	RNA	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr6:132859838C>T	ENST00000434551.1	+	0	410					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		GTTACTGATCCTCTGACCTAT	0.363																																					Colon(10;433 445 15992 45047 47213)	uc011eci.1																			0					0						c.(409-411)CCT>CTT		trace amine associated receptor 9							140.0	130.0	133.0					6																	132859838		1967	4150	6117			134860					plasma membrane	G-protein coupled receptor activity	g.chr6:132859838C>T	AF380189	CCDS75520.1	6q23.2	2013-10-02	2010-03-12	2005-02-24	ENSG00000237110	ENSG00000237110		"""GPCR / Class A : Trace amine associated receptors"""	20977	protein-coding gene	gene with protein product		608282	"""trace amine receptor 3"", ""trace amine associated receptor 9"""	TRAR3		15718104	Standard	NM_175057		Approved	TA3, TAR3	uc011eci.2	Q96RI9	OTTHUMG00000015578		6.37:g.132859838C>T							p.P137L	NM_175057	NP_778227	Q96RI9	TAAR9_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)	2	412	+	Breast(56;0.112)		137			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000434551.1	37	c.410C>T																																																																																					PASS	0.363	TAAR9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000042254.2	NM_175057		35	58	35	58	---	---	---	---
KIAA1244	57221	broad.mit.edu	37	6	138655785	138655785	+	Silent	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr6:138655785C>T	ENST00000251691.4	+	33	5968	c.5802C>T	c.(5800-5802)ggC>ggT	p.G1934G		NM_020340.4	NP_065073.3			KIAA1244									p.G1863G(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TCTTCAAGGGCGACCCGTTCT	0.562																																						uc003qhu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(5800-5802)GGC>GGT		brefeldin A-inhibited guanine							54.0	49.0	51.0					6																	138655785		2203	4300	6503	SO:0001819	synonymous_variant	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138655785C>T	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.5802C>T	6.37:g.138655785C>T							p.G1934G	NM_020340	NP_065073	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	33	5802	+	Breast(32;0.135)		1934						Silent	SNP	ENST00000251691.4	37	c.5802C>T	CCDS5189.2																																																																																				PASS	0.562	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		4	46	4	46	---	---	---	---
TIAM2	26230	broad.mit.edu	37	6	155504519	155504519	+	Silent	SNP	A	A	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr6:155504519A>C	ENST00000461783.3	+	16	4222	c.2949A>C	c.(2947-2949)acA>acC	p.T983T	TIAM2_ENST00000360366.4_Silent_p.T1007T|TIAM2_ENST00000456877.2_Silent_p.T295T|TIAM2_ENST00000318981.5_Silent_p.T983T|TIAM2_ENST00000529824.2_Silent_p.T983T|TIAM2_ENST00000528391.2_Silent_p.T319T|TIAM2_ENST00000367174.2_Silent_p.T359T|TIAM2_ENST00000456144.1_Silent_p.T983T			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	983					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T983T(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CCCTGTGTACATCCTGGTCAG	0.527																																						uc003qqb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)	4						c.(2947-2949)ACA>ACC		T-cell lymphoma invasion and metastasis 2							80.0	79.0	79.0					6																	155504519		2203	4300	6503	SO:0001819	synonymous_variant	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155504519A>C		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.2949A>C	6.37:g.155504519A>C						TIAM2_uc003qqe.2_Silent_p.T983T|TIAM2_uc010kjj.2_Silent_p.T516T|TIAM2_uc003qqf.2_Silent_p.T359T|TIAM2_uc011efl.1_Silent_p.T319T|TIAM2_uc003qqg.2_Silent_p.T295T	p.T983T	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	16	4222	+		Ovarian(120;0.196)	983					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Silent	SNP	ENST00000461783.3	37	c.2949A>C	CCDS34558.1																																																																																				PASS	0.527	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		35	67	35	67	---	---	---	---
C6orf118	168090	broad.mit.edu	37	6	165715433	165715433	+	Silent	SNP	G	G	T	rs34717417	byFrequency	TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr6:165715433G>T	ENST00000230301.8	-	2	398	c.378C>A	c.(376-378)acC>acA	p.T126T	C6orf118_ENST00000543069.1_Silent_p.T22T	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	126								p.T126T(1)		breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TGAACAGCGGGGTGTCCTGGG	0.622																																						uc003qum.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(376-378)ACC>ACA		hypothetical protein LOC168090							68.0	73.0	71.0					6																	165715433		2203	4300	6503	SO:0001819	synonymous_variant	168090							g.chr6:165715433G>T		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.378C>A	6.37:g.165715433G>T						C6orf118_uc011egi.1_RNA	p.T126T	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	2	414	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	126					Q8TC11	Silent	SNP	ENST00000230301.8	37	c.378C>A	CCDS5288.1																																																																																				PASS	0.622	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		16	125	16	125	---	---	---	---
THBS2	7058	broad.mit.edu	37	6	169641892	169641892	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr6:169641892G>A	ENST00000366787.3	-	6	1105	c.856C>T	c.(856-858)Ctc>Ttc	p.L286F	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	286					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.L286F(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TGGTTCACGAGGACGTGGAGC	0.672																																					Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(856-858)CTC>TTC		thrombospondin 2 precursor							84.0	80.0	81.0					6																	169641892		2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169641892G>A		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.856C>T	6.37:g.169641892G>A	ENSP00000355751:p.Leu286Phe						p.L286F	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	6	1104	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	286					A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.856C>T	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.468283	0.43839	.	.	ENSG00000186340	ENST00000366787	T	0.81415	-1.49	4.75	-7.28	0.01456	.	1.966570	0.03127	U	0.164677	T	0.47764	0.1463	L	0.40543	1.245	0.09310	N	1	P	0.36354	0.549	B	0.29267	0.1	T	0.54589	-0.8271	10	0.62326	D	0.03	-8.7921	5.9165	0.19057	0.0967:0.3092:0.4795:0.1146	.	286	P35442	TSP2_HUMAN	F	286	ENSP00000355751:L286F	ENSP00000355751:L286F	L	-	1	0	THBS2	169383817	0.022000	0.18835	0.010000	0.14722	0.842000	0.47809	-0.197000	0.09518	-0.814000	0.04352	-0.500000	0.04577	CTC		PASS	0.672	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		29	77	29	77	---	---	---	---
ZFAND2A	90637	broad.mit.edu	37	7	1195151	1195151	+	Missense_Mutation	SNP	C	C	G	rs527420198		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr7:1195151C>G	ENST00000316495.3	-	4	479	c.220G>C	c.(220-222)Gtg>Ctg	p.V74L	ZFAND2A_ENST00000401903.1_Missense_Mutation_p.V74L	NM_182491.2	NP_872297.2	Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A	74					cellular response to arsenic-containing substance (GO:0071243)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	zinc ion binding (GO:0008270)	p.V74L(1)		lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		CCAACCACCACGTCTGGTATC	0.483																																						uc003skc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(220-222)GTG>CTG		zinc finger, AN1-type domain 2A							181.0	169.0	173.0					7																	1195151		2203	4300	6503	SO:0001583	missense	90637					cytoplasm|nucleus	zinc ion binding	g.chr7:1195151C>G	BC029558	CCDS5323.1	7p22.3	2010-04-23			ENSG00000178381	ENSG00000178381		"""Zinc fingers, AN1-type domain containing"""	28073	protein-coding gene	gene with protein product	"""arsenite inducible RNA associated protein"""	610699				20185824	Standard	NM_182491		Approved	AIRAP	uc003skc.3	Q8N6M9	OTTHUMG00000119019	ENST00000316495.3:c.220G>C	7.37:g.1195151C>G	ENSP00000314619:p.Val74Leu					ZFAND2A_uc003skd.3_Missense_Mutation_p.V74L	p.V74L	NM_182491	NP_872297	Q8N6M9	ZFN2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)	4	521	-		Ovarian(82;0.11)	74					A4D220	Missense_Mutation	SNP	ENST00000316495.3	37	c.220G>C	CCDS5323.1	.	.	.	.	.	.	.	.	.	.	C	7.763	0.705827	0.15172	.	.	ENSG00000178381	ENST00000401903;ENST00000397083;ENST00000316495	T;T;T	0.46063	0.97;0.88;0.98	5.42	4.53	0.55603	Zinc finger, AN1-type (1);	0.171152	0.50627	D	0.000112	T	0.33000	0.0848	L	0.51853	1.615	0.35480	D	0.798064	B;B	0.26744	0.158;0.006	B;B	0.24974	0.057;0.01	T	0.31943	-0.9925	10	0.20046	T	0.44	-9.3106	8.7472	0.34594	0.0:0.8278:0.0:0.1722	.	74;74	A8MYA3;Q8N6M9	.;ZFN2A_HUMAN	L	74	ENSP00000386031:V74L;ENSP00000380273:V74L;ENSP00000314619:V74L	ENSP00000314619:V74L	V	-	1	0	ZFAND2A	1161677	1.000000	0.71417	0.244000	0.24202	0.008000	0.06430	1.752000	0.38349	2.540000	0.85666	0.655000	0.94253	GTG		PASS	0.483	ZFAND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239220.2	NM_182491		52	91	52	91	---	---	---	---
CRHR2	1395	broad.mit.edu	37	7	30706895	30706895	+	Silent	SNP	C	C	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr7:30706895C>G	ENST00000471646.1	-	3	681	c.264G>C	c.(262-264)acG>acC	p.T88T	CRHR2_ENST00000348438.4_Silent_p.T115T|CRHR2_ENST00000341843.4_Silent_p.T74T|CRHR2_ENST00000506074.2_Silent_p.T88T	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	88					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)	p.T88T(1)|p.T74T(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTGAGGCCCACGTCCCATTCT	0.537																																						uc003tbn.2																			2	Substitution - coding silent(2)		lung(2)	lung(2)|ovary(1)|skin(1)	4						c.(262-264)ACG>ACC		corticotropin releasing hormone receptor 2							209.0	161.0	177.0					7																	30706895		2203	4300	6503	SO:0001819	synonymous_variant	1395				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr7:30706895C>G		CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.264G>C	7.37:g.30706895C>G						CRHR2_uc010kvw.1_Silent_p.T88T|CRHR2_uc010kvx.1_Silent_p.T88T|CRHR2_uc010kvy.1_Intron|CRHR2_uc003tbo.2_Silent_p.T74T|CRHR2_uc003tbp.2_Silent_p.T115T	p.T88T	NM_001883	NP_001874	Q13324	CRFR2_HUMAN			3	508	-			88			Extracellular (Potential).		B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Silent	SNP	ENST00000471646.1	37	c.264G>C	CCDS5429.1																																																																																				PASS	0.537	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3			36	84	36	84	---	---	---	---
CCDC129	223075	broad.mit.edu	37	7	31618018	31618018	+	Silent	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr7:31618018C>A	ENST00000407970.3	+	8	1178	c.1140C>A	c.(1138-1140)ggC>ggA	p.G380G	CCDC129_ENST00000451887.2_Silent_p.G406G|CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000409210.1_Silent_p.G288G	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	380								p.G380G(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ATCTTGCAGGCAAAGGACCAG	0.483																																						uc003tcj.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1138-1140)GGC>GGA		coiled-coil domain containing 129							45.0	44.0	44.0					7																	31618018		1989	4170	6159	SO:0001819	synonymous_variant	223075							g.chr7:31618018C>A	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1140C>A	7.37:g.31618018C>A						CCDC129_uc011kad.1_Silent_p.G390G|CCDC129_uc003tci.1_Intron|CCDC129_uc011kae.1_Silent_p.G406G|CCDC129_uc003tck.1_Silent_p.G288G	p.G380G	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			8	2133	+			380					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Silent	SNP	ENST00000407970.3	37	c.1140C>A	CCDS5435.2																																																																																				PASS	0.483	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		14	35	14	35	---	---	---	---
CCDC129	223075	broad.mit.edu	37	7	31682532	31682532	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr7:31682532G>T	ENST00000407970.3	+	11	1586	c.1548G>T	c.(1546-1548)gaG>gaT	p.E516D	CCDC129_ENST00000451887.2_Missense_Mutation_p.E542D|CCDC129_ENST00000319386.3_Missense_Mutation_p.E368D|CCDC129_ENST00000409210.1_Missense_Mutation_p.E424D	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	516								p.E516D(1)|p.E368D(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GGCCACCAGAGCTGTATATCC	0.542																																						uc003tcj.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1546-1548)GAG>GAT		coiled-coil domain containing 129							108.0	108.0	108.0					7																	31682532		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31682532G>T	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1548G>T	7.37:g.31682532G>T	ENSP00000384416:p.Glu516Asp					CCDC129_uc011kad.1_Missense_Mutation_p.E526D|CCDC129_uc003tci.1_Missense_Mutation_p.E367D|CCDC129_uc011kae.1_Missense_Mutation_p.E542D|CCDC129_uc003tck.1_Missense_Mutation_p.E424D	p.E516D	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			11	2541	+			516					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.1548G>T	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717386	0.68844	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.24538	1.85;2.13;2.12;1.87	5.86	-4.7	0.03288	.	0.616188	0.15361	N	0.266398	T	0.33000	0.0848	M	0.66939	2.045	0.09310	N	1	D;B;B;D	0.76494	0.995;0.202;0.202;0.999	P;B;B;D	0.66602	0.862;0.097;0.097;0.945	T	0.15578	-1.0432	10	0.29301	T	0.29	-14.4673	3.1607	0.06520	0.5416:0.124:0.2081:0.1262	.	542;526;516;368	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	D	368;516;542;526;424	ENSP00000313062:E368D;ENSP00000384416:E516D;ENSP00000395835:E542D;ENSP00000387214:E424D	ENSP00000313062:E368D	E	+	3	2	CCDC129	31649057	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.004000	0.12878	-0.472000	0.06881	0.591000	0.81541	GAG		PASS	0.542	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		6	126	6	126	---	---	---	---
CCDC129	223075	broad.mit.edu	37	7	31683037	31683037	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr7:31683037G>A	ENST00000407970.3	+	11	2091	c.2053G>A	c.(2053-2055)Ggt>Agt	p.G685S	CCDC129_ENST00000451887.2_Missense_Mutation_p.G711S|CCDC129_ENST00000319386.3_Missense_Mutation_p.G537S|CCDC129_ENST00000409210.1_Missense_Mutation_p.G593S	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	685								p.G685S(1)|p.G537S(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TGGTACTTTGGGTCAGATACT	0.498																																						uc003tcj.1																			2	Substitution - Missense(2)		lung(2)		0						c.(2053-2055)GGT>AGT		coiled-coil domain containing 129							75.0	72.0	73.0					7																	31683037		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31683037G>A	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.2053G>A	7.37:g.31683037G>A	ENSP00000384416:p.Gly685Ser					CCDC129_uc011kad.1_Missense_Mutation_p.G695S|CCDC129_uc003tci.1_Missense_Mutation_p.G536S|CCDC129_uc011kae.1_Missense_Mutation_p.G711S|CCDC129_uc003tck.1_Missense_Mutation_p.G593S	p.G685S	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			11	3046	+			685					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.2053G>A	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242472	0.79912	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.19806	2.12;2.42;2.41;2.16	4.89	2.09	0.27110	.	0.318789	0.22559	N	0.058488	T	0.19287	0.0463	L	0.54323	1.7	0.09310	N	1	P;P;P;P	0.51351	0.944;0.944;0.944;0.944	P;P;P;P	0.45071	0.468;0.468;0.468;0.468	T	0.09930	-1.0652	10	0.25751	T	0.34	-9.5621	6.2123	0.20636	0.3112:0.0:0.6888:0.0	.	711;695;685;537	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	S	537;685;711;695;593	ENSP00000313062:G537S;ENSP00000384416:G685S;ENSP00000395835:G711S;ENSP00000387214:G593S	ENSP00000313062:G537S	G	+	1	0	CCDC129	31649562	0.010000	0.17322	0.159000	0.22649	0.545000	0.35147	1.076000	0.30729	0.490000	0.27771	0.655000	0.94253	GGT		PASS	0.498	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		27	50	27	50	---	---	---	---
KBTBD2	25948	broad.mit.edu	37	7	32909082	32909082	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr7:32909082C>A	ENST00000304056.4	-	4	2446	c.1747G>T	c.(1747-1749)Gtg>Ttg	p.V583L	KBTBD2_ENST00000485611.1_5'Flank|AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	583								p.V583L(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			AGTTTCCCCACAGTGCATCGA	0.483																																						uc003tdb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1747-1749)GTG>TTG		kelch repeat and BTB (POZ) domain containing 2							145.0	134.0	138.0					7																	32909082		2203	4300	6503	SO:0001583	missense	25948							g.chr7:32909082C>A	AB040922	CCDS34614.1	7p14.3	2013-01-08	2003-12-12	2003-12-12	ENSG00000170852	ENSG00000170852		"""BTB/POZ domain containing"""	21751	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 1"""	BKLHD1		10819331	Standard	NM_015483		Approved	DKFZP566C134	uc003tdb.2	Q8IY47	OTTHUMG00000152984	ENST00000304056.4:c.1747G>T	7.37:g.32909082C>A	ENSP00000302586:p.Val583Leu					AVL9_uc011kai.1_Intron	p.V583L	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	GBM - Glioblastoma multiforme(11;0.0499)		4	2406	-			583					A8K9T7|Q86Y62|Q9P239|Q9UFM7|Q9Y382	Missense_Mutation	SNP	ENST00000304056.4	37	c.1747G>T	CCDS34614.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745064	0.49151	.	.	ENSG00000170852	ENST00000304056	T	0.68025	-0.3	5.41	5.41	0.78517	.	0.059324	0.64402	D	0.000002	T	0.74779	0.3761	L	0.32530	0.975	0.58432	D	0.999999	D	0.58970	0.984	D	0.65443	0.935	T	0.77424	-0.2593	10	0.87932	D	0	.	19.1951	0.93684	0.0:1.0:0.0:0.0	.	583	Q8IY47	KBTB2_HUMAN	L	583	ENSP00000302586:V583L	ENSP00000302586:V583L	V	-	1	0	KBTBD2	32875607	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.052000	0.71080	2.552000	0.86080	0.591000	0.81541	GTG		PASS	0.483	KBTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328890.1	XM_291224		26	110	26	110	---	---	---	---
DPY19L1	23333	broad.mit.edu	37	7	35009140	35009140	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr7:35009140T>C	ENST00000310974.4	-	9	844	c.700A>G	c.(700-702)Aca>Gca	p.T234A	DPY19L1_ENST00000462134.2_5'UTR	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	234						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)	p.T234A(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						TAAAGTTTTGTAGCCCTTGAA	0.353																																						uc003tem.3																			1	Substitution - Missense(1)		lung(1)		0						c.(700-702)ACA>GCA		dpy-19-like 1							59.0	56.0	57.0					7																	35009140		1820	4083	5903	SO:0001583	missense	23333					integral to membrane		g.chr7:35009140T>C	AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.700A>G	7.37:g.35009140T>C	ENSP00000308695:p.Thr234Ala						p.T234A	NM_015283	NP_056098	Q2PZI1	D19L1_HUMAN			9	845	-			234					O94954|Q4G151	Missense_Mutation	SNP	ENST00000310974.4	37	c.700A>G	CCDS43567.1	.	.	.	.	.	.	.	.	.	.	T	5.905	0.351076	0.11182	.	.	ENSG00000173852	ENST00000310974;ENST00000446375	T;T	0.54675	0.56;0.56	5.18	1.07	0.20283	.	0.563658	0.19150	N	0.121464	T	0.20170	0.0485	N	0.03608	-0.345	0.20638	N	0.99987	B	0.02656	0.0	B	0.04013	0.001	T	0.12863	-1.0531	10	0.13470	T	0.59	-10.4519	2.9276	0.05789	0.1415:0.084:0.1464:0.6282	.	234	Q2PZI1	D19L1_HUMAN	A	234;33	ENSP00000308695:T234A;ENSP00000400510:T33A	ENSP00000308695:T234A	T	-	1	0	DPY19L1	34975665	0.970000	0.33590	1.000000	0.80357	0.990000	0.78478	-0.049000	0.11924	0.783000	0.33636	0.402000	0.26972	ACA		PASS	0.353	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1			24	22	24	22	---	---	---	---
PGAM2	5224	broad.mit.edu	37	7	44104495	44104495	+	Silent	SNP	G	G	A	rs555158017		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr7:44104495G>A	ENST00000297283.3	-	2	588	c.531C>T	c.(529-531)gcC>gcT	p.A177A	AC017116.11_ENST00000445938.1_RNA	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	177					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to mercury ion (GO:0046689)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|striated muscle contraction (GO:0006941)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity (GO:0046538)|bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|cofactor binding (GO:0048037)|phosphoglycerate mutase activity (GO:0004619)	p.A177A(1)		large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						CTCGCTTGCCGGCCTTGATCT	0.647																																						uc003tjs.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(529-531)GCC>GCT		phosphoglycerate mutase 2							42.0	40.0	41.0					7																	44104495		2201	4300	6501	SO:0001819	synonymous_variant	5224				gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity	g.chr7:44104495G>A		CCDS34624.1	7p13-p12	2008-11-17			ENSG00000164708	ENSG00000164708	5.4.2.1, 3.1.3.13, 5.4.2.4		8889	protein-coding gene	gene with protein product		612931					Standard	NM_000290		Approved	PGAM-M	uc003tjs.3	P15259	OTTHUMG00000155355	ENST00000297283.3:c.531C>T	7.37:g.44104495G>A							p.A177A	NM_000290	NP_000281	P15259	PGAM2_HUMAN			2	566	-			177						Silent	SNP	ENST00000297283.3	37	c.531C>T	CCDS34624.1																																																																																				PASS	0.647	PGAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339614.1			12	22	12	22	---	---	---	---
MYO1G	64005	broad.mit.edu	37	7	45004657	45004657	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr7:45004657G>A	ENST00000258787.7	-	18	2549	c.2413C>T	c.(2413-2415)Ccc>Tcc	p.P805S		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	805						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.P805S(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TCTGAAGGGGGGATGTTCTTC	0.662																																						uc003tmh.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|pancreas(1)	4						c.(2413-2415)CCC>TCC		myosin IG							47.0	56.0	53.0					7																	45004657		2203	4300	6503	SO:0001583	missense	64005					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr7:45004657G>A	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"""Myosins / Myosin superfamily : Class I"""	13880	protein-coding gene	gene with protein product	"""minor histocompatibility antigen HA-2"""	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.2413C>T	7.37:g.45004657G>A	ENSP00000258787:p.Pro805Ser					MYO1G_uc003tmf.2_Missense_Mutation_p.P248S|MYO1G_uc003tmg.2_Missense_Mutation_p.P567S|MYO1G_uc010kym.2_Missense_Mutation_p.P690S	p.P805S	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN			18	2557	-			805					Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	37	c.2413C>T	CCDS34629.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.235092	0.58886	.	.	ENSG00000136286	ENST00000258787	D	0.86694	-2.16	4.29	3.4	0.38934	.	0.000000	0.38326	N	0.001731	D	0.85647	0.5745	L	0.56769	1.78	0.58432	D	0.999998	P	0.51933	0.949	P	0.46885	0.53	D	0.83465	0.0056	10	0.37606	T	0.19	.	11.2288	0.48899	0.0922:0.0:0.9078:0.0	.	805	B0I1T2	MYO1G_HUMAN	S	805	ENSP00000258787:P805S	ENSP00000258787:P805S	P	-	1	0	MYO1G	44971182	1.000000	0.71417	0.965000	0.40720	0.938000	0.57974	8.499000	0.90494	0.926000	0.37118	0.561000	0.74099	CCC		PASS	0.662	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			26	82	26	82	---	---	---	---
CCM2	83605	broad.mit.edu	37	7	45113071	45113071	+	Silent	SNP	A	A	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr7:45113071A>G	ENST00000258781.6	+	8	965	c.816A>G	c.(814-816)gaA>gaG	p.E272E	CCM2_ENST00000541586.1_Silent_p.E214E|CCM2_ENST00000474617.1_Silent_p.E175E|CCM2_ENST00000475551.1_Silent_p.E266E|CCM2_ENST00000381112.3_Silent_p.E293E|CCM2_ENST00000544363.1_Silent_p.E181E|CCM2_ENST00000461377.1_3'UTR	NM_031443.3	NP_113631.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	272					blood vessel endothelial cell differentiation (GO:0060837)|cell-cell junction organization (GO:0045216)|endothelial cell development (GO:0001885)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|integrin-mediated signaling pathway (GO:0007229)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|stress-activated MAPK cascade (GO:0051403)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)	cytoplasm (GO:0005737)|protein complex (GO:0043234)		p.E293E(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GCTTCCCTGAATCTGTGGATG	0.587																																						uc003tmo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(814-816)GAA>GAG		cerebral cavernous malformation 2 isoform 2							108.0	76.0	87.0					7																	45113071		2203	4300	6503	SO:0001819	synonymous_variant	83605	Familial_Cerebral_Cavernous_Angioma			endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding	g.chr7:45113071A>G	BC004903	CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1	7p13	2014-09-17	2004-02-13	2004-02-18	ENSG00000136280	ENSG00000136280			21708	protein-coding gene	gene with protein product	"""malcavernin"""	607929	"""chromosome 7 open reading frame 22"""	C7orf22		9811928	Standard	NM_001029835		Approved	MGC4607	uc003tms.3	Q9BSQ5	OTTHUMG00000129246	ENST00000258781.6:c.816A>G	7.37:g.45113071A>G						CCM2_uc003tmn.2_RNA|CCM2_uc003tmp.2_Silent_p.E214E|CCM2_uc003tmq.2_RNA|CCM2_uc003tmr.2_Silent_p.E181E|CCM2_uc003tms.2_Silent_p.E293E	p.E272E	NM_031443	NP_113631	Q9BSQ5	CCM2_HUMAN			8	962	+			272					A4D2L4|B3KUV0|D3DVL4|E9PDJ3|F5H0E1|F5H551|Q71RE5|Q8TAT4	Silent	SNP	ENST00000258781.6	37	c.816A>G	CCDS5500.1																																																																																				PASS	0.587	CCM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251348.1	NM_031443		5	37	5	37	---	---	---	---
IKZF1	10320	broad.mit.edu	37	7	50467916	50467916	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr7:50467916C>A	ENST00000331340.3	+	8	1306	c.1151C>A	c.(1150-1152)tCg>tAg	p.S384*	IKZF1_ENST00000359197.5_Nonsense_Mutation_p.S342*|IKZF1_ENST00000346667.4_Nonsense_Mutation_p.S154*|IKZF1_ENST00000438033.1_Nonsense_Mutation_p.S297*|IKZF1_ENST00000349824.4_Nonsense_Mutation_p.S241*|IKZF1_ENST00000343574.5_Nonsense_Mutation_p.S297*|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000439701.1_Nonsense_Mutation_p.S342*|IKZF1_ENST00000357364.4_Nonsense_Mutation_p.S297*	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	384					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)|p.S384*(1)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TTGGTGCCCTCGGAGCGCGAG	0.667			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	uc003tow.3				"""Rec,Dom"""	yes		7	7p12.2	10320	D	IKAROS family zinc finger 1			L			ALL		29	Unknown(28)|Substitution - Nonsense(1)		haematopoietic_and_lymphoid_tissue(28)|lung(1)	haematopoietic_and_lymphoid_tissue(147)|lung(1)	148						c.(1150-1152)TCG>TAG		zinc finger protein, subfamily 1A, 1 (Ikaros)							16.0	21.0	19.0					7																	50467916		2068	4190	6258	SO:0001587	stop_gained	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50467916C>A	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.1151C>A	7.37:g.50467916C>A	ENSP00000331614:p.Ser384*					IKZF1_uc003tox.3_Nonsense_Mutation_p.S342*|IKZF1_uc003toy.3_Nonsense_Mutation_p.S342*|IKZF1_uc011kck.1_Nonsense_Mutation_p.S297*|IKZF1_uc003toz.3_Nonsense_Mutation_p.S354*|IKZF1_uc010kyx.2_Nonsense_Mutation_p.S124*|IKZF1_uc003tpa.3_Nonsense_Mutation_p.S126*	p.S384*	NM_006060	NP_006051	Q13422	IKZF1_HUMAN			9	1319	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	384					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Nonsense_Mutation	SNP	ENST00000331340.3	37	c.1151C>A		.	.	.	.	.	.	.	.	.	.	C	33	5.282219	0.95489	.	.	ENSG00000185811	ENST00000346667;ENST00000343574;ENST00000359197;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000438033;ENST00000439701	.	.	.	5.65	5.65	0.86999	.	0.269693	0.43747	D	0.000533	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-18.7428	19.7107	0.96095	0.0:1.0:0.0:0.0	.	.	.	.	X	154;297;342;241;297;384;297;342	.	ENSP00000331614:S384X	S	+	2	0	IKZF1	50435410	0.999000	0.42202	0.066000	0.19879	0.753000	0.42808	4.589000	0.61006	2.659000	0.90383	0.585000	0.79938	TCG		PASS	0.667	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		6	5	6	5	---	---	---	---
TYW1	55253	broad.mit.edu	37	7	66703398	66703398	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr7:66703398A>G	ENST00000359626.5	+	16	2245	c.2081A>G	c.(2080-2082)aAg>aGg	p.K694R		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	694					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)	p.K694R(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				TTCAGCGCAAAGGATTATATG	0.438																																						uc003tvn.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2080-2082)AAG>AGG		radical S-adenosyl methionine and flavodoxin							74.0	72.0	72.0					7																	66703398		2203	4298	6501	SO:0001583	missense	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66703398A>G	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.2081A>G	7.37:g.66703398A>G	ENSP00000352645:p.Lys694Arg					TYW1_uc010lai.2_RNA|TYW1_uc011kef.1_Missense_Mutation_p.K308R|PMS2L4_uc003tvo.2_Intron	p.K694R	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN			16	2230	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	694					Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	37	c.2081A>G	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	A	6.746	0.506543	0.12883	.	.	ENSG00000198874	ENST00000359626	T	0.17528	2.27	3.74	2.51	0.30379	.	1.210450	0.06038	N	0.654391	T	0.13500	0.0327	L	0.36672	1.1	0.19775	N	0.999954	B	0.02656	0.0	B	0.04013	0.001	T	0.38628	-0.9652	10	0.17369	T	0.5	.	6.1746	0.20437	0.5867:0.0:0.0:0.4133	.	694	Q9NV66	TYW1_HUMAN	R	694	ENSP00000352645:K694R	ENSP00000352645:K694R	K	+	2	0	TYW1	66340833	0.937000	0.31787	0.477000	0.27303	0.516000	0.34256	1.963000	0.40452	0.450000	0.26774	0.333000	0.21579	AAG		PASS	0.438	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		22	61	22	61	---	---	---	---
GRM3	2913	broad.mit.edu	37	7	86394893	86394893	+	Silent	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr7:86394893G>T	ENST00000361669.2	+	2	1531	c.432G>T	c.(430-432)ggG>ggT	p.G144G	GRM3_ENST00000536043.1_Intron|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Silent_p.G142G|GRM3_ENST00000439827.1_Silent_p.G144G	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	144					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.G144G(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TCATTGCAGGGGTCATTGGTG	0.423																																					GBM(52;969 1098 3139 52280)	uc003uid.2																			1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(430-432)GGG>GGT		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						108.0	96.0	100.0					7																	86394893		2203	4300	6503	SO:0001819	synonymous_variant	2913				synaptic transmission	integral to plasma membrane		g.chr7:86394893G>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.432G>T	7.37:g.86394893G>T						GRM3_uc010lef.2_Silent_p.G142G|GRM3_uc010leg.2_Intron|GRM3_uc010leh.2_Intron	p.G144G	NM_000840	NP_000831	Q14832	GRM3_HUMAN			2	1531	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		144			Extracellular (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent	SNP	ENST00000361669.2	37	c.432G>T	CCDS5600.1																																																																																				PASS	0.423	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			13	103	13	103	---	---	---	---
ABCB4	5244	broad.mit.edu	37	7	87069537	87069537	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr7:87069537T>A	ENST00000265723.4	-	13	1649	c.1538A>T	c.(1537-1539)gAg>gTg	p.E513V	ABCB4_ENST00000545634.1_Missense_Mutation_p.E513V|ABCB4_ENST00000453593.1_Missense_Mutation_p.E513V|ABCB4_ENST00000359206.3_Missense_Mutation_p.E513V|ABCB4_ENST00000358400.3_Missense_Mutation_p.E513V	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	513	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.E513V(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	CATGATAAACTCATAGGCGTT	0.373																																						uc003uiv.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)|pancreas(1)	6						c.(1537-1539)GAG>GTG		ATP-binding cassette, subfamily B, member 4							87.0	85.0	85.0					7																	87069537		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87069537T>A	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1538A>T	7.37:g.87069537T>A	ENSP00000265723:p.Glu513Val					ABCB4_uc003uiw.1_Missense_Mutation_p.E513V|ABCB4_uc003uix.1_Missense_Mutation_p.E513V	p.E513V	NM_018849	NP_061337	P21439	MDR3_HUMAN			13	1614	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		513			ABC transporter 1.|Cytoplasmic (By similarity).		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.1538A>T	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	T	18.85	3.712065	0.68730	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85;-2.85	5.73	5.73	0.89815	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.589450	0.18376	N	0.143106	D	0.92984	0.7767	M	0.89287	3.02	0.31760	N	0.633489	B;B;B	0.26845	0.161;0.061;0.075	B;B;B	0.32928	0.114;0.06;0.155	D	0.93541	0.6878	10	0.87932	D	0	-1.2762	16.0241	0.80528	0.0:0.0:0.0:1.0	.	513;513;513	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	V	513	ENSP00000352135:E513V;ENSP00000351172:E513V;ENSP00000265723:E513V;ENSP00000392983:E513V;ENSP00000437465:E513V	ENSP00000265723:E513V	E	-	2	0	ABCB4	86907473	1.000000	0.71417	0.909000	0.35828	0.859000	0.49053	8.036000	0.88901	2.164000	0.68074	0.528000	0.53228	GAG		PASS	0.373	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		35	88	35	88	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100682917	100682917	+	Silent	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr7:100682917C>T	ENST00000306151.4	+	3	8284	c.8220C>T	c.(8218-8220)agC>agT	p.S2740S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2740	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.S2740S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAGGTACCAGCATGCGAATCT	0.498																																						uc003uxp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(8218-8220)AGC>AGT		mucin 17 precursor							259.0	256.0	257.0					7																	100682917		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100682917C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8220C>T	7.37:g.100682917C>T						MUC17_uc010lho.1_RNA	p.S2740S	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	8273	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2740			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|44.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.8220C>T	CCDS34711.1																																																																																				PASS	0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		87	244	87	244	---	---	---	---
ARF5	381	broad.mit.edu	37	7	127231092	127231092	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr7:127231092G>T	ENST00000000233.5	+	5	560	c.406G>T	c.(406-408)Gtg>Ttg	p.V136L	FSCN3_ENST00000265825.5_5'Flank|FSCN3_ENST00000420086.2_5'Flank|GCC1_ENST00000497650.1_Intron	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5	136					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.V136L(1)		cervix(2)|kidney(1)|lung(10)|ovary(1)	14						CGCCATGCCCGTGAGCGAGCT	0.612																																						uc003vmb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(406-408)GTG>TTG		ADP-ribosylation factor 5							115.0	110.0	112.0					7																	127231092		2203	4300	6503	SO:0001583	missense	381				protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr7:127231092G>T		CCDS34745.1	7q31.3	2008-07-18			ENSG00000004059	ENSG00000004059		"""ADP-ribosylation factors"""	658	protein-coding gene	gene with protein product		103188				1993656	Standard	NM_001662		Approved		uc003vmb.2	P84085	OTTHUMG00000023246	ENST00000000233.5:c.406G>T	7.37:g.127231092G>T	ENSP00000000233:p.Val136Leu					FSCN3_uc003vmc.1_5'Flank|FSCN3_uc011kog.1_5'Flank|FSCN3_uc011koh.1_5'Flank|FSCN3_uc003vmd.1_5'Flank|FSCN3_uc010llc.1_5'Flank	p.V136L	NM_001662	NP_001653	P84085	ARF5_HUMAN			5	442	+			136					P26437	Missense_Mutation	SNP	ENST00000000233.5	37	c.406G>T	CCDS34745.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931208	0.52866	.	.	ENSG00000004059	ENST00000000233;ENST00000415666	T;T	0.62639	0.01;0.01	5.19	4.31	0.51392	Small GTP-binding protein domain (1);	0.141503	0.47093	D	0.000260	T	0.55449	0.1921	L	0.60455	1.87	0.38945	D	0.958226	B	0.09022	0.002	B	0.08055	0.003	T	0.57923	-0.7727	10	0.87932	D	0	-14.2045	7.8708	0.29565	0.185:0.0:0.815:0.0	.	136	P84085	ARF5_HUMAN	L	136;134	ENSP00000000233:V136L;ENSP00000412701:V134L	ENSP00000000233:V136L	V	+	1	0	ARF5	127018328	0.999000	0.42202	0.983000	0.44433	0.890000	0.51754	2.969000	0.49232	1.191000	0.43056	0.561000	0.74099	GTG		PASS	0.612	ARF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059567.2	NM_001662		62	251	62	251	---	---	---	---
FAM131B	9715	broad.mit.edu	37	7	143053859	143053859	+	Silent	SNP	C	C	A	rs144329877	byFrequency	TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr7:143053859C>A	ENST00000409408.1	-	6	2491	c.783G>T	c.(781-783)ccG>ccT	p.P261P	FAM131B_ENST00000409346.1_Silent_p.P261P|FAM131B_ENST00000409578.1_Silent_p.P277P|FAM131B_ENST00000409222.3_Silent_p.P261P|FAM131B_ENST00000443739.2_Silent_p.P289P			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	261								p.P289P(1)|p.P261P(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					CGCCTACCCCCGGAGCCCAGT	0.622																																						uc003wct.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(781-783)CCG>CCT		hypothetical protein LOC9715 isoform b							81.0	92.0	88.0					7																	143053859		2203	4300	6503	SO:0001819	synonymous_variant	9715							g.chr7:143053859C>A	BC045611	CCDS5882.1, CCDS47734.1	7q34	2007-03-20			ENSG00000159784	ENSG00000159784			22202	protein-coding gene	gene with protein product							Standard	NM_014690		Approved	KIAA0773	uc010lpa.3	Q86XD5	OTTHUMG00000152697	ENST00000409408.1:c.783G>T	7.37:g.143053859C>A						FAM131B_uc010loz.2_Silent_p.P229P|FAM131B_uc003wcu.3_Silent_p.P261P|FAM131B_uc010lpa.2_Silent_p.P289P	p.P261P	NM_014690	NP_055505	Q86XD5	F131B_HUMAN			6	2489	-	Melanoma(164;0.205)		261					A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97	Silent	SNP	ENST00000409408.1	37	c.783G>T	CCDS5882.1																																																																																				PASS	0.622	FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328057.1	NM_014690		143	123	143	123	---	---	---	---
NOBOX	135935	broad.mit.edu	37	7	144098589	144098589	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr7:144098589G>T	ENST00000467773.1	-	4	393	c.394C>A	c.(394-396)Cca>Aca	p.P132T	NOBOX_ENST00000483238.1_Missense_Mutation_p.P132T|NOBOX_ENST00000223140.5_Missense_Mutation_p.P47T	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	132					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.P132T(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CAGGAGGGTGGCAGTTCCTCA	0.657																																						uc011kue.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(394-396)CCA>ACA		NOBOX oogenesis homeobox							27.0	30.0	29.0					7																	144098589		1889	4041	5930	SO:0001583	missense	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144098589G>T			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.394C>A	7.37:g.144098589G>T	ENSP00000419457:p.Pro132Thr						p.P132T	NM_001080413	NP_001073882	O60393	NOBOX_HUMAN			4	394	-	Melanoma(164;0.14)		132					A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37	c.394C>A		.	.	.	.	.	.	.	.	.	.	G	13.86	2.363368	0.41902	.	.	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140	D;D;D	0.97710	-4.5;-3.96;-4.41	4.72	2.41	0.29592	.	.	.	.	.	D	0.94453	0.8215	L	0.27053	0.805	0.09310	N	1	P	0.47762	0.9	P	0.46362	0.514	D	0.89017	0.3432	9	0.62326	D	0.03	-1.6033	4.6406	0.12546	0.1585:0.2036:0.6379:0.0	.	132	O60393	NOBOX_HUMAN	T	132;132;47	ENSP00000419565:P132T;ENSP00000419457:P132T;ENSP00000223140:P47T	ENSP00000223140:P47T	P	-	1	0	NOBOX	143729522	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.287000	0.18920	0.343000	0.23821	-0.305000	0.09177	CCA		PASS	0.657	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		18	77	18	77	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	146818117	146818117	+	Silent	SNP	A	A	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr7:146818117A>G	ENST00000361727.3	+	6	1317	c.801A>G	c.(799-801)acA>acG	p.T267T		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	267	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.T267T(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGTGATGACAGGAAGTTTGC	0.517										HNSCC(39;0.1)																												uc003weu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(799-801)ACA>ACG		cell recognition molecule Caspr2 precursor							135.0	112.0	120.0					7																	146818117		2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146818117A>G	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.801A>G	7.37:g.146818117A>G		HNSCC(39;0.1)					p.T267T	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		6	1317	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	267			Laminin G-like 1.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.801A>G	CCDS5889.1																																																																																				PASS	0.517	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			72	72	72	72	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	147844663	147844663	+	Missense_Mutation	SNP	G	G	A	rs201187461		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr7:147844663G>A	ENST00000361727.3	+	17	3151	c.2635G>A	c.(2635-2637)Gat>Aat	p.D879N	CNTNAP2_ENST00000538075.1_De_novo_Start_OutOfFrame	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	879	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.D879N(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCCTCTCAACGATGACCAGTG	0.562										HNSCC(39;0.1)			G|||	1	0.000199681	0.0	0.0	5008	,	,		16329	0.0		0.001	False		,,,				2504	0.0					uc003weu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(2635-2637)GAT>AAT		cell recognition molecule Caspr2 precursor							132.0	122.0	126.0					7																	147844663		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147844663G>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2635G>A	7.37:g.147844663G>A	ENSP00000354778:p.Asp879Asn	HNSCC(39;0.1)					p.D879N	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		17	3151	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	879			Laminin G-like 3.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.2635G>A	CCDS5889.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	33	5.282483	0.95489	.	.	ENSG00000174469	ENST00000361727	D	0.85484	-1.99	5.34	5.34	0.76211	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.93880	0.8042	M	0.91510	3.215	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	D	0.94700	0.7882	10	0.59425	D	0.04	.	17.6488	0.88157	0.0:0.0:1.0:0.0	.	879	Q9UHC6	CNTP2_HUMAN	N	879	ENSP00000354778:D879N	ENSP00000354778:D879N	D	+	1	0	CNTNAP2	147475596	1.000000	0.71417	0.917000	0.36280	0.944000	0.59088	9.756000	0.98918	2.507000	0.84556	0.561000	0.74099	GAT		PASS	0.562	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			106	123	106	123	---	---	---	---
GIMAP1	170575	broad.mit.edu	37	7	150417936	150417936	+	Silent	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr7:150417936C>T	ENST00000307194.5	+	3	984	c.844C>T	c.(844-846)Ctg>Ttg	p.L282L		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	282					B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)	p.L282L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCCCTGCTGCTGGGGGGCGC	0.697																																						uc003whq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(844-846)CTG>TTG		GTPase, IMAP family member 1							8.0	9.0	9.0					7																	150417936		2005	4025	6030	SO:0001819	synonymous_variant	170575					endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr7:150417936C>T	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"""GTPases, IMAP"""	23237	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 2"""	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.844C>T	7.37:g.150417936C>T						GIMAP1_uc003whp.2_Silent_p.L290L	p.L282L	NM_130759	NP_570115	Q8WWP7	GIMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	931	+			282			Helical; Anchor for type IV membrane protein; (Potential).		B2RCI3|Q8NAZ0	Silent	SNP	ENST00000307194.5	37	c.844C>T	CCDS5906.1																																																																																				PASS	0.697	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759		4	23	4	23	---	---	---	---
TMEM176A	55365	broad.mit.edu	37	7	150499388	150499388	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr7:150499388G>T	ENST00000484928.1	+	3	841	c.260G>T	c.(259-261)gGa>gTa	p.G87V	TMEM176B_ENST00000326442.5_5'Flank|TMEM176A_ENST00000004103.3_Missense_Mutation_p.G87V|TMEM176B_ENST00000434545.1_5'Flank|TMEM176B_ENST00000450753.2_5'Flank|TMEM176A_ENST00000461345.1_Missense_Mutation_p.G28V|TMEM176B_ENST00000492607.1_5'Flank|TMEM176B_ENST00000447204.2_5'Flank			Q96HP8	T176A_HUMAN	transmembrane protein 176A	87					negative regulation of dendritic cell differentiation (GO:2001199)	integral component of membrane (GO:0016021)		p.G87V(1)		breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTCACCTCGGGAGCTGCCATC	0.562																																						uc003whx.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(259-261)GGA>GTA		hepatocellular carcinoma-associated antigen 112							103.0	83.0	89.0					7																	150499388		2203	4300	6503	SO:0001583	missense	55365					integral to membrane		g.chr7:150499388G>T	AF258340	CCDS5909.1	7q36.1	2006-09-04			ENSG00000002933	ENSG00000002933			24930	protein-coding gene	gene with protein product		610334				12097419, 8889548	Standard	NM_018487		Approved	HCA112	uc003whx.1	Q96HP8	OTTHUMG00000158114	ENST00000484928.1:c.260G>T	7.37:g.150499388G>T	ENSP00000417626:p.Gly87Val					TMEM176B_uc003whu.3_5'Flank|TMEM176B_uc003whv.3_5'Flank|TMEM176B_uc003whw.3_5'Flank	p.G87V	NM_018487	NP_060957	Q96HP8	T176A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	338	+			87			Helical; (Potential).		D3DX00|Q9NYC7	Missense_Mutation	SNP	ENST00000484928.1	37	c.260G>T	CCDS5909.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365629	0.61513	.	.	ENSG00000002933	ENST00000484928;ENST00000004103;ENST00000461345;ENST00000475536;ENST00000468689	T;T;T;T;T	0.03635	3.86;3.86;3.86;3.86;3.86	4.6	3.7	0.42460	.	0.483882	0.19108	N	0.122516	T	0.14013	0.0339	M	0.76574	2.34	0.24350	N	0.99493	D	0.67145	0.996	D	0.63793	0.918	T	0.01977	-1.1236	10	0.87932	D	0	-7.4844	10.0192	0.42033	0.0:0.0:0.7982:0.2018	.	87	Q96HP8	T176A_HUMAN	V	87;87;28;39;28	ENSP00000417626:G87V;ENSP00000004103:G87V;ENSP00000420818:G28V;ENSP00000417834:G39V;ENSP00000420081:G28V	ENSP00000004103:G87V	G	+	2	0	TMEM176A	150130321	0.096000	0.21769	0.040000	0.18447	0.220000	0.24768	1.260000	0.32968	1.250000	0.43966	0.561000	0.74099	GGA		PASS	0.562	TMEM176A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350222.1	NM_018487		41	48	41	48	---	---	---	---
PTPRN2	5799	broad.mit.edu	37	7	158325457	158325457	+	Intron	SNP	T	T	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr7:158325457T>C	ENST00000389418.4	-	2	122				PTPRN2_ENST00000389416.4_Intron|PTPRN2_ENST00000389413.3_Intron|PTPRN2_ENST00000404321.2_Intron|PTPRN2_ENST00000409483.1_Intron|MIR595_ENST00000384905.1_RNA	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2						negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		ACCTGTTCCTTACAAGACTAC	0.507																																						hsa-mir-595|MI0003607																			0					0															144.0	132.0	136.0					7																	158325457		1568	3582	5150	SO:0001627	intron_variant	693180							g.chr7:158325457T>C	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.113-42980A>G	7.37:g.158325457T>C						PTPRN2_uc003wno.2_Intron|PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron										-								E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	RNA	SNP	ENST00000389418.4	37	c.49T>C	CCDS5947.1																																																																																				PASS	0.507	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			62	195	62	195	---	---	---	---
KIAA1456	57604	broad.mit.edu	37	8	12879025	12879025	+	Silent	SNP	T	T	C	rs201315040		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr8:12879025T>C	ENST00000524591.2	+	5	1326	c.837T>C	c.(835-837)agT>agC	p.S279S	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	279							methyltransferase activity (GO:0008168)	p.S192S(1)|p.S279S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						TTTGGGCCAGTAGCACTGTAA	0.423																																						uc010lsq.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(835-837)AGT>AGC		hypothetical protein LOC57604 isoform 1		T	,	0,3770		0,0,1885	82.0	79.0	80.0		459,837	-8.3	0.0	8		80	1,8213		0,1,4106	no	coding-synonymous,coding-synonymous	KIAA1456	NM_001099677.1,NM_020844.2	,	0,1,5991	CC,CT,TT		0.0122,0.0,0.0083	,	153/329,279/455	12879025	1,11983	1885	4107	5992	SO:0001819	synonymous_variant	57604						methyltransferase activity	g.chr8:12879025T>C	BC035082	CCDS47808.1	8p22	2013-10-04	2011-02-23	2011-02-23	ENSG00000250305	ENSG00000250305			26725	protein-coding gene	gene with protein product		615666	"""chromosome 8 open reading frame 79"""	C8orf79		23381944	Standard	NM_020844		Approved	FLJ36980	uc010lsq.3	Q8N9K7	OTTHUMG00000165477	ENST00000524591.2:c.837T>C	8.37:g.12879025T>C						C8orf79_uc011kxw.1_Intron|C8orf79_uc003wwj.3_Silent_p.S192S|C8orf79_uc010lsr.2_Silent_p.S153S	p.S279S	NM_020844	NP_065895	Q9P272	K1456_HUMAN			5	1329	+			279					Q96AW6	Silent	SNP	ENST00000524591.2	37	c.837T>C	CCDS47808.1																																																																																				PASS	0.423	KIAA1456-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383262.2	NM_001099677		27	45	27	45	---	---	---	---
STC1	6781	broad.mit.edu	37	8	23709836	23709836	+	Silent	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr8:23709836C>A	ENST00000290271.2	-	2	463	c.180G>T	c.(178-180)ctG>ctT	p.L60L	STC1_ENST00000524323.1_5'UTR	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	60					bone development (GO:0060348)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cAMP (GO:0071320)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|chondrocyte proliferation (GO:0035988)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endothelial cell morphogenesis (GO:0001886)|growth plate cartilage axis specification (GO:0003421)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of renal phosphate excretion (GO:1903403)|ossification (GO:0001503)|positive regulation of calcium ion import (GO:0090280)|regulation of anion transport (GO:0044070)|regulation of cardiac muscle cell contraction (GO:0086004)|response to vitamin D (GO:0033280)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.L60L(2)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TGGAGTTTTCCAGGCATGCAA	0.478																																						uc003xdw.1																			2	Substitution - coding silent(2)		lung(1)|skin(1)	skin(3)|upper_aerodigestive_tract(1)	4						c.(178-180)CTG>CTT		stanniocalcin 1 precursor							126.0	111.0	116.0					8																	23709836		2203	4300	6503	SO:0001819	synonymous_variant	6781				cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity	g.chr8:23709836C>A		CCDS6043.1	8p22-p12	2008-06-23			ENSG00000159167	ENSG00000159167			11373	protein-coding gene	gene with protein product		601185		STC		9480753	Standard	NM_003155		Approved		uc003xdw.1	P52823	OTTHUMG00000097853	ENST00000290271.2:c.180G>T	8.37:g.23709836C>A							p.L60L	NM_003155	NP_003146	P52823	STC1_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	2	464	-		Prostate(55;0.055)|Breast(100;0.116)	60					B4DN22|Q71UE5	Silent	SNP	ENST00000290271.2	37	c.180G>T	CCDS6043.1																																																																																				PASS	0.478	STC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215143.1			45	61	45	61	---	---	---	---
ADAM7	8756	broad.mit.edu	37	8	24342837	24342837	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr8:24342837G>C	ENST00000175238.6	+	10	1006	c.923G>C	c.(922-924)gGt>gCt	p.G308A	ADAM7_ENST00000380789.1_Missense_Mutation_p.G308A|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.G80A|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	308	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G308A(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TATCCAGGGGGTATGTGCCTG	0.353																																						uc003xeb.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|kidney(1)	5						c.(922-924)GGT>GCT		a disintegrin and metalloproteinase domain 7							152.0	147.0	149.0					8																	24342837		2203	4300	6503	SO:0001583	missense	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24342837G>C	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.923G>C	8.37:g.24342837G>C	ENSP00000175238:p.Gly308Ala					ADAM7_uc003xec.2_Missense_Mutation_p.G80A	p.G308A	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	10	1036	+		Prostate(55;0.0181)	308			Peptidase M12B.|Extracellular (Potential).		A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	37	c.923G>C	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	G	7.794	0.712243	0.15306	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	T;T;T	0.36520	1.25;1.25;1.25	5.35	4.46	0.54185	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.229518	0.30686	N	0.009099	T	0.50309	0.1608	M	0.64170	1.965	0.09310	N	1	D;D	0.69078	0.997;0.997	P;P	0.62649	0.905;0.905	T	0.42464	-0.9450	10	0.21540	T	0.41	.	12.0104	0.53284	0.0:0.1744:0.8256:0.0	.	80;308	E5RK87;Q9H2U9	.;ADAM7_HUMAN	A	308;308;80;123	ENSP00000175238:G308A;ENSP00000370166:G308A;ENSP00000430400:G80A	ENSP00000175238:G308A	G	+	2	0	ADAM7	24398727	0.331000	0.24713	0.041000	0.18516	0.420000	0.31355	2.938000	0.48987	1.245000	0.43885	0.644000	0.83932	GGT		PASS	0.353	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		51	92	51	92	---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30705226	30705226	+	Silent	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr8:30705226G>A	ENST00000256246.2	-	1	1382	c.1308C>T	c.(1306-1308)aaC>aaT	p.N436N	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	436					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.N436N(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTCTCTGAATGTTCTCTAATG	0.348																																						uc003xil.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(1306-1308)AAC>AAT		testis expressed 15							151.0	150.0	150.0					8																	30705226		2203	4300	6503	SO:0001819	synonymous_variant	56154							g.chr8:30705226G>A	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.1308C>T	8.37:g.30705226G>A							p.N436N	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	1308	-			436						Silent	SNP	ENST00000256246.2	37	c.1308C>T	CCDS6080.1																																																																																				PASS	0.348	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			57	129	57	129	---	---	---	---
WRN	7486	broad.mit.edu	37	8	31024623	31024623	+	Silent	SNP	A	A	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr8:31024623A>G	ENST00000298139.5	+	34	4317	c.4068A>G	c.(4066-4068)aaA>aaG	p.K1356K	RP11-363L24.3_ENST00000521252.1_RNA	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1356					aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)	p.K1356K(1)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AGATCCTTAAACATGGTCCTG	0.388			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	uc003xio.3			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Mis|N|F|S	Werner syndrome (RECQL2)			"""L, E, M, O"""		osteosarcoma|meningioma|others			1	Substitution - coding silent(1)		lung(1)	ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(4066-4068)AAA>AAG	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner syndrome protein							120.0	107.0	111.0					8																	31024623		2203	4300	6503	SO:0001819	synonymous_variant	7486	Werner_syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:31024623A>G		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.4068A>G	8.37:g.31024623A>G						WRN_uc010lvk.2_Silent_p.K823K	p.K1356K	NM_000553	NP_000544	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	34	4856	+		Breast(100;0.195)	1356					A1KYY9	Silent	SNP	ENST00000298139.5	37	c.4068A>G	CCDS6082.1																																																																																				PASS	0.388	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			20	29	20	29	---	---	---	---
KCNU1	157855	broad.mit.edu	37	8	36698064	36698064	+	Silent	SNP	T	T	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr8:36698064T>C	ENST00000399881.3	+	15	1639	c.1602T>C	c.(1600-1602)ttT>ttC	p.F534F		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	534					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.F534F(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CTGATGACTTTGCTGGAATGA	0.418																																						uc010lvw.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1600-1602)TTT>TTC		potassium channel, subfamily U, member 1							94.0	87.0	89.0					8																	36698064		1897	4112	6009	SO:0001819	synonymous_variant	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36698064T>C	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.1602T>C	8.37:g.36698064T>C						KCNU1_uc003xjw.2_RNA	p.F534F	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	15	1689	+			534			Cytoplasmic (Potential).			Silent	SNP	ENST00000399881.3	37	c.1602T>C	CCDS55220.1																																																																																				PASS	0.418	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		14	19	14	19	---	---	---	---
KAT6A	7994	broad.mit.edu	37	8	41834527	41834527	+	Splice_Site	SNP	T	T	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr8:41834527T>A	ENST00000396930.3	-	8	1905	c.1362A>T	c.(1360-1362)acA>acT	p.T454T	KAT6A_ENST00000406337.1_Splice_Site_p.T454T|KAT6A_ENST00000265713.2_Splice_Site_p.T454T|KAT6A_ENST00000485568.1_Splice_Site_p.T454T	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	454	Interaction with PML.|Interaction with RUNX1-1.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.T454T(1)									AACTCTTACCTGTGGGCCAAT	0.388																																						uc010lxb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(1360-1362)ACA>ACT		MYST histone acetyltransferase (monocytic							105.0	103.0	103.0					8																	41834527		2203	4300	6503	SO:0001630	splice_region_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41834527T>A	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.1363+1A>T	8.37:g.41834527T>A						MYST3_uc010lxc.2_Silent_p.T454T|MYST3_uc003xon.3_Silent_p.T454T|MYST3_uc010lxd.2_Silent_p.T454T	p.T454T	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)		8	1906	-	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	454			Interaction with RUNX1-1.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.1362A>T	CCDS6124.1																																																																																				PASS	0.388	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766	Silent	35	92	35	92	---	---	---	---
ST18	9705	broad.mit.edu	37	8	53030927	53030927	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr8:53030927C>T	ENST00000276480.7	-	24	3513	c.2830G>A	c.(2830-2832)Gaa>Aaa	p.E944K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	944					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E944K(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				ATATCTGCTTCAATTTTAAGG	0.308																																						uc003xqz.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(2830-2832)GAA>AAA		suppression of tumorigenicity 18							191.0	187.0	188.0					8																	53030927		2201	4297	6498	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53030927C>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2830G>A	8.37:g.53030927C>T	ENSP00000276480:p.Glu944Lys					ST18_uc011ldq.1_Missense_Mutation_p.E591K|ST18_uc011ldr.1_Missense_Mutation_p.E909K|ST18_uc011lds.1_Missense_Mutation_p.E849K|ST18_uc003xra.2_Missense_Mutation_p.E944K	p.E944K	NM_014682	NP_055497	O60284	ST18_HUMAN			19	2986	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	944			Potential.		Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.2830G>A	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	C	34	5.379280	0.95945	.	.	ENSG00000147488	ENST00000276480	T	0.66460	-0.21	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.80428	0.4621	L	0.58583	1.82	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.82032	-0.0658	10	0.87932	D	0	-26.1059	18.9918	0.92796	0.0:1.0:0.0:0.0	.	944	O60284	ST18_HUMAN	K	944	ENSP00000276480:E944K	ENSP00000276480:E944K	E	-	1	0	ST18	53193480	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.441000	0.80485	2.499000	0.84300	0.591000	0.81541	GAA		PASS	0.308	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			29	45	29	45	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77765162	77765162	+	Missense_Mutation	SNP	C	C	G	rs202076391		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr8:77765162C>G	ENST00000521891.2	+	10	6453	c.6005C>G	c.(6004-6006)aCg>aGg	p.T2002R	ZFHX4_ENST00000455469.2_Missense_Mutation_p.T1957R|ZFHX4_ENST00000518282.1_Missense_Mutation_p.T1976R|ZFHX4_ENST00000050961.6_Missense_Mutation_p.T1957R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1957	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.T2002R(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCTCCAGAAACGccgcccccg	0.517										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(5869-5871)ACG>AGG		zinc finger homeodomain 4							35.0	35.0	35.0					8																	77765162		1905	4115	6020	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77765162C>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.6005C>G	8.37:g.77765162C>G	ENSP00000430497:p.Thr2002Arg	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.T2002R|ZFHX4_uc003yaw.1_Missense_Mutation_p.T1957R	p.T1957R	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	6257	+			1957			Pro-rich.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.5870C>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753860	0.89843	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	3.91	3.91	0.45181	.	0.149143	0.30464	U	0.009580	T	0.53029	0.1771	L	0.38175	1.15	0.51482	D	0.999921	P;D;D	0.53885	0.938;0.963;0.963	P;P;P	0.57101	0.655;0.813;0.813	T	0.53767	-0.8392	10	0.41790	T	0.15	.	16.107	0.81230	0.0:1.0:0.0:0.0	.	1957;1957;2002	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	R	2002;2002;1957;1957;1976	ENSP00000430497:T2002R;ENSP00000399605:T1957R;ENSP00000050961:T1957R;ENSP00000430848:T1976R	ENSP00000050961:T1957R	T	+	2	0	ZFHX4	77927717	.	.	0.921000	0.36526	0.974000	0.67602	.	.	2.217000	0.71921	0.435000	0.28638	ACG		PASS	0.517	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		5	8	5	8	---	---	---	---
DCAF4L2	138009	broad.mit.edu	37	8	88885555	88885555	+	Silent	SNP	C	C	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr8:88885555C>G	ENST00000319675.3	-	1	741	c.645G>C	c.(643-645)acG>acC	p.T215T		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	215								p.T215T(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GCTGGTGTCCCGTCACCACGT	0.542																																						uc003ydz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(643-645)ACG>ACC		WD repeat domain 21C							180.0	161.0	167.0					8																	88885555		2203	4300	6503	SO:0001819	synonymous_variant	138009							g.chr8:88885555C>G	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.645G>C	8.37:g.88885555C>G							p.T215T	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	742	-			215						Silent	SNP	ENST00000319675.3	37	c.645G>C	CCDS6245.1																																																																																				PASS	0.542	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		54	132	54	132	---	---	---	---
RUNX1T1	862	broad.mit.edu	37	8	93017503	93017503	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr8:93017503C>A	ENST00000523629.1	-	6	1035	c.581G>T	c.(580-582)cGt>cTt	p.R194L	RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R167L|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R194L|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.R157L|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R157L|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R157L|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R167L|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R157L|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R205L	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	194	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R157L(1)|p.R194L(1)|p.R205L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GAGGAGCTCACGCTGCAGCAG	0.547																																						uc003yfd.2																			3	Substitution - Missense(3)		lung(3)	lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16						c.(580-582)CGT>CTT		acute myelogenous leukemia 1 translocation 1							115.0	92.0	100.0					8																	93017503		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93017503C>A	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.581G>T	8.37:g.93017503C>A	ENSP00000428543:p.Arg194Leu					RUNX1T1_uc003yfc.1_Missense_Mutation_p.R167L|RUNX1T1_uc003yfe.1_Missense_Mutation_p.R157L|RUNX1T1_uc010mao.2_Missense_Mutation_p.R167L|RUNX1T1_uc011lgi.1_Missense_Mutation_p.R205L|RUNX1T1_uc003yfb.1_Missense_Mutation_p.R157L|RUNX1T1_uc003yff.1_Missense_Mutation_p.R157L	p.R194L	NM_175634	NP_783552	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		5	665	-			194			TAFH.		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.581G>T	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	C	35	5.597459	0.96602	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844;ENST00000521553;ENST00000518992;ENST00000521054	T;T;T;T;T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83	5.67	5.67	0.87782	TAFH/NHR1 (3);	0.000000	0.85682	D	0.000000	T	0.67730	0.2924	L	0.56769	1.78	0.80722	D	1	P;P;D	0.76494	0.912;0.842;0.999	P;D;D	0.87578	0.895;0.917;0.998	T	0.67837	-0.5567	10	0.62326	D	0.03	-11.5991	19.7501	0.96265	0.0:1.0:0.0:0.0	.	205;194;167	E7EPN4;Q06455;Q06455-2	.;MTG8_HUMAN;.	L	194;167;194;157;157;157;205;167;157;194;157	ENSP00000428543:R194L;ENSP00000379520:R167L;ENSP00000265814:R194L;ENSP00000353504:R157L;ENSP00000390137:R157L;ENSP00000428742:R157L;ENSP00000402257:R205L;ENSP00000430728:R167L;ENSP00000429728:R157L;ENSP00000431094:R194L;ENSP00000427763:R157L	ENSP00000265814:R194L	R	-	2	0	RUNX1T1	93086679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.672000	0.90937	0.655000	0.94253	CGT		PASS	0.547	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		26	55	26	55	---	---	---	---
FZD6	8323	broad.mit.edu	37	8	104330981	104330981	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr8:104330981G>T	ENST00000358755.4	+	3	658	c.341G>T	c.(340-342)gGg>gTg	p.G114V	FZD6_ENST00000523739.1_Missense_Mutation_p.G82V|FZD6_ENST00000540287.1_Intron|FZD6_ENST00000522566.1_Missense_Mutation_p.G114V	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	114	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.G114V(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			GACACTTTTGGGATCCGATGG	0.378																																						uc003ylh.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(340-342)GGG>GTG		frizzled 6 isoform a precursor							78.0	78.0	78.0					8																	104330981		2203	4300	6503	SO:0001583	missense	8323				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:104330981G>T	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"""GPCR / Class F : Frizzled receptors"""	4044	protein-coding gene	gene with protein product		603409	"""frizzled (Drosophila) homolog 6"", ""frizzled homolog 6 (Drosophila)"", ""frizzled 6, seven transmembrane spanning receptor"", ""frizzled family receptor 6"""			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.341G>T	8.37:g.104330981G>T	ENSP00000351605:p.Gly114Val					FZD6_uc003yli.2_Missense_Mutation_p.G114V|FZD6_uc003ylj.2_Missense_Mutation_p.G114V|FZD6_uc011lhn.1_Missense_Mutation_p.G80V|FZD6_uc011lho.1_Intron|FZD6_uc011lhp.1_Missense_Mutation_p.G59V	p.G114V	NM_003506	NP_003497	O60353	FZD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		3	625	+			114			FZ.|Extracellular (Potential).		B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Missense_Mutation	SNP	ENST00000358755.4	37	c.341G>T	CCDS6298.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659847	0.67586	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000539487	D;D;D	0.82081	-1.57;-1.57;-1.57	5.75	2.74	0.32292	Frizzled domain (5);	0.149673	0.64402	D	0.000013	D	0.90896	0.7139	M	0.93328	3.405	0.80722	D	1	P;P;P	0.52316	0.952;0.902;0.952	P;P;P	0.57244	0.71;0.816;0.594	D	0.90728	0.4640	10	0.87932	D	0	.	10.925	0.47185	0.2162:0.0:0.7838:0.0	.	59;114;114	B4E236;B2R9H9;O60353	.;.;FZD6_HUMAN	V	114;114;82;59	ENSP00000429055:G114V;ENSP00000351605:G114V;ENSP00000429528:G82V	ENSP00000351605:G114V	G	+	2	0	FZD6	104400157	1.000000	0.71417	0.938000	0.37757	0.997000	0.91878	3.281000	0.51685	0.267000	0.21916	0.655000	0.94253	GGG		PASS	0.378	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506		5	124	5	124	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110457003	110457003	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr8:110457003G>T	ENST00000378402.5	+	38	5009	c.4905G>T	c.(4903-4905)ttG>ttT	p.L1635F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1635	IPT/TIG 8.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.L1637F(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTGTCACTTTGACTGTCTACA	0.423										HNSCC(38;0.096)																												uc003yne.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(4903-4905)TTG>TTT		fibrocystin L precursor							233.0	230.0	231.0					8																	110457003		1936	4133	6069	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110457003G>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.4905G>T	8.37:g.110457003G>T	ENSP00000367655:p.Leu1635Phe	HNSCC(38;0.096)					p.L1635F	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		38	5009	+			1635			Extracellular (Potential).|IPT/TIG 8.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.4905G>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.332418	0.24167	.	.	ENSG00000205038	ENST00000378402	D	0.85484	-1.99	5.73	3.64	0.41730	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.281001	0.29767	N	0.011257	D	0.84465	0.5478	M	0.64997	1.995	0.25714	N	0.985455	P	0.38129	0.619	P	0.47705	0.555	T	0.76934	-0.2775	10	0.56958	D	0.05	.	3.3062	0.07001	0.5685:0.2418:0.1896:0.0	.	1635	Q86WI1	PKHL1_HUMAN	F	1635	ENSP00000367655:L1635F	ENSP00000367655:L1635F	L	+	3	2	PKHD1L1	110526179	0.997000	0.39634	0.966000	0.40874	0.006000	0.05464	0.699000	0.25586	0.702000	0.31825	-0.136000	0.14681	TTG		PASS	0.423	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		133	257	133	257	---	---	---	---
MED30	90390	broad.mit.edu	37	8	118533154	118533154	+	Silent	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr8:118533154C>T	ENST00000297347.3	+	1	203	c.39C>T	c.(37-39)ccC>ccT	p.P13P	MED30_ENST00000522839.1_Silent_p.P13P	NM_080651.2	NP_542382.1	Q96HR3	MED30_HUMAN	mediator complex subunit 30	13					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.P13P(1)		kidney(1)|lung(3)|prostate(3)	7	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			GGATGGCGCCCGGGCCCTTCG	0.716																																					Melanoma(81;817 1341 9674 26244 29255)	uc003yoj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(37-39)CCC>CCT		TRAP/Mediator complex component TRAP25							8.0	10.0	9.0					8																	118533154		2130	4216	6346	SO:0001819	synonymous_variant	90390				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr8:118533154C>T	AY083305	CCDS6323.1, CCDS64959.1	8q24.11	2007-07-30	2007-07-30	2007-07-30	ENSG00000164758	ENSG00000164758			23032	protein-coding gene	gene with protein product		610237	"""thyroid hormone receptor associated protein 6"""	THRAP6			Standard	NM_080651		Approved	TRAP25	uc003yoj.3	Q96HR3	OTTHUMG00000164920	ENST00000297347.3:c.39C>T	8.37:g.118533154C>T						MED30_uc011lib.1_Silent_p.P13P	p.P13P	NM_080651	NP_542382	Q96HR3	MED30_HUMAN	STAD - Stomach adenocarcinoma(47;0.0266)		1	190	+	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		13					C6GKU9	Silent	SNP	ENST00000297347.3	37	c.39C>T	CCDS6323.1																																																																																				PASS	0.716	MED30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380923.1	NM_080651		8	14	8	14	---	---	---	---
KCNQ3	3786	broad.mit.edu	37	8	133142111	133142111	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr8:133142111C>A	ENST00000388996.4	-	15	2437	c.2017G>T	c.(2017-2019)Gag>Tag	p.E673*	KCNQ3_ENST00000521134.1_Nonsense_Mutation_p.E553*|KCNQ3_ENST00000519445.1_Nonsense_Mutation_p.E661*	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	673					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.E673*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CTGTTGTCCTCCTTCTTCTCT	0.527																																						uc003ytj.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(2017-2019)GAG>TAG		potassium voltage-gated channel KQT-like protein							149.0	125.0	134.0					8																	133142111		2203	4300	6503	SO:0001587	stop_gained	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133142111C>A	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.2017G>T	8.37:g.133142111C>A	ENSP00000373648:p.Glu673*					KCNQ3_uc010mdt.2_Nonsense_Mutation_p.E661*	p.E673*	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		15	2242	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		673					A2VCT8|B4DJY4|E7EQ89	Nonsense_Mutation	SNP	ENST00000388996.4	37	c.2017G>T	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718998	0.48622	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	.	.	.	5.53	5.53	0.82687	.	0.602886	0.18259	N	0.146698	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-12.7079	18.4459	0.90683	0.0:1.0:0.0:0.0	.	.	.	.	X	673;553;661;650;552	.	ENSP00000373648:E673X	E	-	1	0	KCNQ3	133211293	1.000000	0.71417	0.029000	0.17559	0.086000	0.17979	5.382000	0.66213	2.606000	0.88127	0.555000	0.69702	GAG		PASS	0.527	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		53	136	53	136	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139189639	139189639	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr8:139189639A>T	ENST00000395297.1	-	11	1224	c.1054T>A	c.(1054-1056)Ttt>Att	p.F352I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	352								p.F352I(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCCATGTAAAAGAAGGCCTCA	0.403										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(1054-1056)TTT>ATT		hypothetical protein LOC51059							101.0	96.0	97.0					8																	139189639		1888	4118	6006	SO:0001583	missense	51059							g.chr8:139189639A>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1054T>A	8.37:g.139189639A>T	ENSP00000378710:p.Phe352Ile	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.F253I|FAM135B_uc003yuz.2_RNA	p.F352I	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		11	1225	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		352					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.1054T>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	A	32	5.130589	0.94473	.	.	ENSG00000147724	ENST00000395297	T	0.41758	0.99	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.66208	0.2766	M	0.82823	2.61	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	T	0.71227	-0.4655	10	0.66056	D	0.02	-20.5561	12.9471	0.58379	1.0:0.0:0.0:0.0	.	352	Q49AJ0	F135B_HUMAN	I	352	ENSP00000378710:F352I	ENSP00000276737:F352I	F	-	1	0	FAM135B	139258821	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.711000	0.91396	2.159000	0.67721	0.460000	0.39030	TTT		PASS	0.403	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		18	41	18	41	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139674290	139674290	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr8:139674290C>A	ENST00000303045.6	-	43	3669	c.3223G>T	c.(3223-3225)Ggc>Tgc	p.G1075C	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1055C	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1075	Collagen-like 9.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.G1075C(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCGGCTGGGCCCTGGGGGCCA	0.552										HNSCC(7;0.00092)																												uc003yvd.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(3223-3225)GGC>TGC		collagen, type XXII, alpha 1							100.0	91.0	94.0					8																	139674290		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139674290C>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3223G>T	8.37:g.139674290C>A	ENSP00000303153:p.Gly1075Cys	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Missense_Mutation_p.G355C	p.G1075C	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		43	3670	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1075			Pro-rich.|Gly-rich.|Collagen-like 9.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.3223G>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.531626	0.27387	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.99537	-6.11;-6.11	4.5	4.5	0.54988	.	0.000000	0.46758	U	0.000261	D	0.99768	0.9905	H	0.97983	4.12	0.51482	D	0.999925	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97066	0.9774	10	0.87932	D	0	.	12.8905	0.58069	0.0:1.0:0.0:0.0	.	1055;1075	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	C	1075;1055;768	ENSP00000303153:G1075C;ENSP00000387655:G1055C	ENSP00000303153:G1075C	G	-	1	0	COL22A1	139743472	1.000000	0.71417	1.000000	0.80357	0.191000	0.23601	3.805000	0.55575	2.501000	0.84356	0.555000	0.69702	GGC		PASS	0.552	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		38	104	38	104	---	---	---	---
EPPK1	83481	broad.mit.edu	37	8	144945978	144945978	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr8:144945978A>G	ENST00000525985.1	-	2	1515	c.1444T>C	c.(1444-1446)Ttc>Ctc	p.F482L				P58107	EPIPL_HUMAN	epiplakin 1	482						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.F482L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TACTTGATGAATGGGGGTCCC	0.677																																						uc003zaa.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(1444-1446)TTC>CTC		epiplakin 1							18.0	22.0	21.0					8																	144945978		1878	4084	5962	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144945978A>G	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.1444T>C	8.37:g.144945978A>G	ENSP00000436337:p.Phe482Leu						p.F482L	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	1457	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		482					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.1444T>C		.	.	.	.	.	.	.	.	.	.	A	12.53	1.964975	0.34659	.	.	ENSG00000227184	ENST00000525985	T	0.69306	-0.39	5.02	5.02	0.67125	.	.	.	.	.	T	0.48295	0.1492	N	0.20685	0.6	0.09310	N	1	B	0.25441	0.126	B	0.20767	0.031	T	0.20940	-1.0260	9	0.08599	T	0.76	.	12.7357	0.57222	1.0:0.0:0.0:0.0	.	482	E9PPU0	.	L	482	ENSP00000436337:F482L	ENSP00000436337:F482L	F	-	1	0	EPPK1	145017966	0.095000	0.21747	0.286000	0.24833	0.121000	0.20230	0.949000	0.29109	2.094000	0.63399	0.533000	0.62120	TTC		PASS	0.677	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		12	35	12	35	---	---	---	---
KANK1	23189	broad.mit.edu	37	9	745225	745225	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr9:745225C>T	ENST00000382303.1	+	16	4701	c.4049C>T	c.(4048-4050)tCa>tTa	p.S1350L	KANK1_ENST00000382297.2_Missense_Mutation_p.S1350L|KANK1_ENST00000382293.3_Missense_Mutation_p.S1192L|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1350					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)	p.S1350L(1)|p.S1192L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CACCGAGGTTCATTTGATTGA	0.453																																						uc003zgl.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(4048-4050)TCA>TTA		KN motif and ankyrin repeat domains 1 isoform a							180.0	190.0	187.0					9																	745225		2203	4300	6503	SO:0001583	missense	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:745225C>T	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.4049C>T	9.37:g.745225C>T	ENSP00000371740:p.Ser1350Leu					KANK1_uc003zgn.1_Missense_Mutation_p.S1350L|KANK1_uc003zgs.1_Missense_Mutation_p.S1192L|KANK1_uc010mgx.1_Missense_Mutation_p.S328L|KANK1_uc010mgy.1_Missense_Mutation_p.S262L|KANK1_uc003zgt.1_3'UTR	p.S1350L	NM_015158	NP_055973	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	16	4698	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	1350					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	ENST00000382303.1	37	c.4049C>T	CCDS34976.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336044	0.60963	.	.	ENSG00000107104	ENST00000382303;ENST00000397976;ENST00000382297;ENST00000382293;ENST00000382289	T;T;T	0.38401	1.14;1.14;1.19	5.79	5.79	0.91817	.	0.000000	0.47852	D	0.000206	T	0.24122	0.0584	N	0.08118	0	0.80722	D	1	B;B	0.31435	0.168;0.323	B;B	0.26614	0.066;0.071	T	0.11591	-1.0581	10	0.66056	D	0.02	-15.3287	20.0288	0.97531	0.0:1.0:0.0:0.0	.	396;1350	F5H7I5;Q14678	.;KANK1_HUMAN	L	1350;396;1350;1192;328	ENSP00000371740:S1350L;ENSP00000371734:S1350L;ENSP00000371730:S1192L	ENSP00000371726:S328L	S	+	2	0	KANK1	735225	0.460000	0.25776	0.793000	0.32043	0.965000	0.64279	4.039000	0.57325	2.729000	0.93468	0.643000	0.83706	TCA		PASS	0.453	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		202	119	202	119	---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8527345	8527345	+	Splice_Site	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr9:8527345C>A	ENST00000381196.4	-	13	1093	c.550G>T	c.(550-552)Ggt>Tgt	p.G184C	PTPRD_ENST00000358503.5_Intron|PTPRD_ENST00000397606.3_Splice_Site_p.G184*|PTPRD_ENST00000356435.5_Splice_Site_p.G184C|PTPRD_ENST00000360074.4_Intron|PTPRD_ENST00000355233.5_Splice_Site_p.G184C|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000486161.1_Splice_Site_p.G184C|PTPRD_ENST00000540109.1_Splice_Site_p.G184C|PTPRD_ENST00000397611.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	184	Ig-like C2-type 2.|Interaction with IL1RAPL1. {ECO:0000250}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G184C(3)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AAGCACTTACCAATAGATTCT	0.289										TSP Lung(15;0.13)																												uc003zkk.2																			3	Substitution - Missense(3)		lung(3)	lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(550-552)GGT>TGT		protein tyrosine phosphatase, receptor type, D							48.0	48.0	48.0					9																	8527345		1781	4057	5838	SO:0001630	splice_region_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8527345C>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.550+1G>T	9.37:g.8527345C>A		TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.G184C|PTPRD_uc003zkq.2_Missense_Mutation_p.G184C|PTPRD_uc003zkr.2_Nonsense_Mutation_p.G184*|PTPRD_uc003zks.2_Nonsense_Mutation_p.G184*|PTPRD_uc003zkl.2_Missense_Mutation_p.G184C|PTPRD_uc003zkm.2_Intron|PTPRD_uc003zkn.2_Missense_Mutation_p.G184C|PTPRD_uc003zko.2_Intron	p.G184C	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	15	1261	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	184			Extracellular (Potential).|Ig-like C2-type 2.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.550G>T	CCDS43786.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.260900|4.260900	0.80246|0.80246	.|.	.|.	ENSG00000153707|ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000355233;ENST00000540109;ENST00000486161|ENST00000397606	D;D;D;D;D|.	0.96041|.	-3.89;-3.89;-3.89;-3.89;-3.89|.	5.86|5.86	5.86|5.86	0.93980|0.93980	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	T|.	0.76962|.	0.4061|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B;B;D;B|.	0.89917|.	0.017;0.004;1.0;0.197|.	B;B;D;B|.	0.91635|.	0.037;0.017;0.999;0.285|.	T|.	0.74219|.	-0.3736|.	7|.	.|.	.|.	.|.	.|.	20.2019|20.2019	0.98263|0.98263	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	184;184;184;184|.	Q3KPJ0;Q3KPJ1;Q2HXI4;P23468|.	.;.;.;PTPRD_HUMAN|.	C|X	184|184	ENSP00000370593:G184C;ENSP00000348812:G184C;ENSP00000347373:G184C;ENSP00000438164:G184C;ENSP00000417093:G184C|.	.|.	G|G	-|-	1|1	0|0	PTPRD|PTPRD	8517345|8517345	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.420000|7.420000	0.80191|0.80191	2.776000|2.776000	0.95493|0.95493	0.655000|0.655000	0.94253|0.94253	GGT|GGA		PASS	0.289	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		Missense_Mutation	11	101	11	101	---	---	---	---
MLLT3	4300	broad.mit.edu	37	9	20414001	20414001	+	Silent	SNP	A	A	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr9:20414001A>C	ENST00000380338.4	-	5	1129	c.843T>G	c.(841-843)ccT>ccG	p.P281P	MLLT3_ENST00000429426.2_Silent_p.P278P|MLLT3_ENST00000355930.6_5'UTR|MIR4473_ENST00000583731.1_RNA|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	281					anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.P281P(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		GCCTTTTACTAGGAGCCTTCT	0.418			T	MLL	ALL																																	uc003zoe.2				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(1)	3						c.(841-843)CCT>CCG		myeloid/lymphoid or mixed-lineage leukemia							222.0	224.0	224.0					9																	20414001		2203	4300	6503	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414001A>C	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.843T>G	9.37:g.20414001A>C						MLLT3_uc011lne.1_Silent_p.P249P|MLLT3_uc011lnf.1_Silent_p.P278P|MLLT3_uc003zof.2_Silent_p.P82P	p.P281P	NM_004529	NP_004520	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	1102	-			281					B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.843T>G	CCDS6494.1																																																																																				PASS	0.418	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		205	186	205	186	---	---	---	---
ELAVL2	1993	broad.mit.edu	37	9	23762131	23762132	+	Missense_Mutation	DNP	TG	TG	CT			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr9:23762131_23762132TG>CT	ENST00000397312.2	-	2	375_376	c.101_102CA>AG	c.(100-102)aCA>aAG	p.T34K	ELAVL2_ENST00000380110.4_Missense_Mutation_p.T63K|ELAVL2_ENST00000544538.1_Missense_Mutation_p.T34K|ELAVL2_ENST00000223951.6_Missense_Mutation_p.T34K|ELAVL2_ENST00000462649.1_5'Flank|ELAVL2_ENST00000380117.1_Missense_Mutation_p.T34K	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	34					regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.T34K(2)|p.T34T(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TGCTGTCTTCTGTGTTCCCAGA	0.441																																						uc003zpu.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(2)|central_nervous_system(1)	3						c.(100-102)ACA>ACG|c.(100-102)ACA>AAA		ELAV (embryonic lethal, abnormal vision,																																				SO:0001583	missense	1993				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr9:23762131T>C|g.chr9:23762132G>T	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.101_102delinsCT	9.37:g.23762131_23762132delinsCT	ENSP00000380479:p.Thr34Lys					ELAVL2_uc003zps.2_Silent_p.T34T|ELAVL2_uc003zpt.2_Silent_p.T34T|ELAVL2_uc003zpv.2_Silent_p.T34T|ELAVL2_uc003zpw.2_Silent_p.T34T|ELAVL2_uc003zps.2_Missense_Mutation_p.T34K|ELAVL2_uc003zpt.2_Missense_Mutation_p.T34K|ELAVL2_uc003zpv.2_Missense_Mutation_p.T34K|ELAVL2_uc003zpw.2_Missense_Mutation_p.T34K	p.T34T|p.T34K	NM_004432	NP_004423	Q12926	ELAV2_HUMAN		GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)	2	377|376	-			34					D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Silent|Missense_Mutation	SNP	ENST00000397312.2	37	c.102A>G|c.101C>A	CCDS6515.1																																																																																				PASS	0.441	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		229|232	159	229	159	---	---	---	---
SPATA31E1	286234	broad.mit.edu	37	9	90502802	90502802	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr9:90502802C>A	ENST00000325643.5	+	4	3466	c.3400C>A	c.(3400-3402)Cac>Aac	p.H1134N		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	1134					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.H1134N(1)									TCCAGGCCGCCACATGGACAT	0.652																																						uc004app.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(3400-3402)CAC>AAC		chromosome 9 open reading frame 79							43.0	49.0	47.0					9																	90502802		2202	4300	6502	SO:0001583	missense	286234					integral to membrane		g.chr9:90502802C>A	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.3400C>A	9.37:g.90502802C>A	ENSP00000322640:p.His1134Asn						p.H1134N	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			4	3435	+			1134					B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.3400C>A	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	c	3.756	-0.050495	0.07407	.	.	ENSG00000177992	ENST00000325643	T	0.03635	3.86	2.87	-3.76	0.04359	.	.	.	.	.	T	0.02267	0.0070	N	0.24115	0.695	0.09310	N	1	P	0.37955	0.612	B	0.37451	0.25	T	0.45308	-0.9270	9	0.16896	T	0.51	.	5.9712	0.19353	0.4707:0.2187:0.3107:0.0	.	1134	Q6ZUB1	CI079_HUMAN	N	1134	ENSP00000322640:H1134N	ENSP00000322640:H1134N	H	+	1	0	C9orf79	89692622	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.909000	0.04058	-0.856000	0.04120	-0.176000	0.13171	CAC		PASS	0.652	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		18	64	18	64	---	---	---	---
RGS3	5998	broad.mit.edu	37	9	116357881	116357881	+	Missense_Mutation	SNP	G	G	T	rs375907877		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr9:116357881G>T	ENST00000374140.2	+	25	3456	c.3247G>T	c.(3247-3249)Ggg>Tgg	p.G1083W	RGS3_ENST00000342620.5_Missense_Mutation_p.G53W|RGS3_ENST00000374134.3_Missense_Mutation_p.G404W|RGS3_ENST00000350696.5_Missense_Mutation_p.G1083W|RGS3_ENST00000462143.1_Missense_Mutation_p.G404W|RGS3_ENST00000394646.3_Missense_Mutation_p.G476W|RGS3_ENST00000343817.5_Missense_Mutation_p.G802W|RGS3_ENST00000462403.1_Missense_Mutation_p.G196W	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1083	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.G1083R(1)|p.G1083W(1)|p.G196R(1)|p.G196W(1)|p.G979W(1)|p.G979R(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CCTCACAGACGGGTTAGCAGT	0.522																																						uc004bhq.2																			6	Substitution - Missense(6)		large_intestine(3)|lung(3)	ovary(1)|lung(1)|skin(1)	3						c.(3247-3249)GGG>TGG		regulator of G-protein signalling 3 isoform 6							157.0	129.0	139.0					9																	116357881		2203	4300	6503	SO:0001583	missense	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116357881G>T	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3247G>T	9.37:g.116357881G>T	ENSP00000363255:p.Gly1083Trp					RGS3_uc004bhs.2_Missense_Mutation_p.G973W|RGS3_uc004bht.2_Missense_Mutation_p.G802W|RGS3_uc010muy.2_Missense_Mutation_p.G476W|RGS3_uc004bhv.2_Missense_Mutation_p.G404W|RGS3_uc004bhw.2_Missense_Mutation_p.G53W|RGS3_uc011lxh.1_Missense_Mutation_p.G393W|RGS3_uc004bhx.2_Missense_Mutation_p.G404W|RGS3_uc004bhz.2_Missense_Mutation_p.G425W|RGS3_uc004bia.2_Missense_Mutation_p.G196W	p.G1083W	NM_144488	NP_652759	P49796	RGS3_HUMAN			25	3456	+			1083			RGS.		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	c.3247G>T	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870804	0.72065	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000343817;ENST00000394646;ENST00000474719;ENST00000462143;ENST00000342620;ENST00000374134;ENST00000462403	T;T;T;T;T;T;T;T	0.03035	4.07;4.07;4.07;4.07;4.07;4.07;4.07;4.07	5.37	5.37	0.77165	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.000000	0.64402	D	0.000001	T	0.32912	0.0845	H	0.97540	4.025	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	T	0.55535	-0.8126	10	0.87932	D	0	.	18.1493	0.89669	0.0:0.0:1.0:0.0	.	476;196;979;802;973;1083	B3KUB2;Q5VZ06;P49796-6;P49796-4;B3KWG8;P49796	.;.;.;.;.;RGS3_HUMAN	W	1083;1083;802;476;251;404;53;404;196	ENSP00000363255:G1083W;ENSP00000259406:G1083W;ENSP00000340284:G802W;ENSP00000378141:G476W;ENSP00000420356:G404W;ENSP00000343359:G53W;ENSP00000363249:G404W;ENSP00000436168:G196W	ENSP00000343359:G53W	G	+	1	0	RGS3	115397702	1.000000	0.71417	0.890000	0.34922	0.332000	0.28634	9.799000	0.99117	2.507000	0.84556	0.456000	0.33151	GGG		PASS	0.522	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		53	45	53	45	---	---	---	---
COL27A1	85301	broad.mit.edu	37	9	117051248	117051248	+	Splice_Site	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr9:117051248G>A	ENST00000356083.3	+	44	4543		c.e44+1			NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1						extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.?(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGGCCAACCCGTGAGTGGTGC	0.617																																						uc011lxl.1																			1	Unknown(1)		lung(1)	ovary(3)|skin(1)	4						c.e44+1		collagen, type XXVII, alpha 1 precursor							50.0	53.0	52.0					9																	117051248		2203	4300	6503	SO:0001630	splice_region_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117051248G>A	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.4152+1G>A	9.37:g.117051248G>A						COL27A1_uc004bii.2_Splice_Site	p.P1384_splice	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN			44	4152	+								Q66K43|Q96JF7	Splice_Site	SNP	ENST00000356083.3	37	c.4152_splice	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.842962	0.71488	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9016	0.79380	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL27A1	116091069	0.999000	0.42202	0.985000	0.45067	0.901000	0.52897	3.626000	0.54245	2.429000	0.82318	0.585000	0.79938	.		PASS	0.617	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888	Intron	23	54	23	54	---	---	---	---
ORM2	5005	broad.mit.edu	37	9	117094113	117094113	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr9:117094113G>T	ENST00000431067.2	+	5	480	c.444G>T	c.(442-444)aaG>aaT	p.K148N	ORM2_ENST00000412657.1_3'UTR	NM_000608.2	NP_000599.1	P19652	A1AG2_HUMAN	orosomucoid 2	148					acute-phase response (GO:0006953)|regulation of immune system process (GO:0002682)|transport (GO:0006810)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.K148N(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7		Myeloproliferative disorder(63;0.163)			Chlorpromazine(DB00477)|Oxycodone(DB00497)|Thalidomide(DB01041)	CAGCTGACAAGCCAGAGACGA	0.612																																					NSCLC(65;867 1308 1814 2391 12508)	uc011lxo.1																			1	Substitution - Missense(1)		lung(1)		0						c.(442-444)AAG>AAT		orosomucoid 1 precursor	Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)						56.0	60.0	58.0					9																	117094113		2203	4297	6500	SO:0001583	missense	5004				acute-phase response|regulation of immune system process|transport	extracellular space	protein binding	g.chr9:117094113G>T		CCDS6804.1	9q32	2013-09-19			ENSG00000228278	ENSG00000228278		"""Lipocalins"""	8499	protein-coding gene	gene with protein product	"""alpha-1-acid glycoprotein, type 2"""	138610				4711474, 2970990	Standard	NM_000608		Approved	AGP-B, AGP-B', AGP2		P19652	OTTHUMG00000021014	ENST00000431067.2:c.444G>T	9.37:g.117094113G>T	ENSP00000394936:p.Lys148Asn					ORM2_uc004bil.2_Missense_Mutation_p.K148N	p.K148N	NM_000607	NP_000598	P02763	A1AG1_HUMAN			5	555	+		Myeloproliferative disorder(63;0.163)	148					B2R5L2|Q16571|Q5T538|Q6IB74	Missense_Mutation	SNP	ENST00000431067.2	37	c.444G>T	CCDS6804.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.387123	0.42308	.	.	ENSG00000228278	ENST00000431067	T	0.06849	3.25	3.56	0.299	0.15771	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.397540	0.24506	N	0.037930	T	0.10121	0.0248	M	0.73598	2.24	0.20307	N	0.999914	B	0.23990	0.095	B	0.31946	0.138	T	0.28490	-1.0042	10	0.72032	D	0.01	-29.1498	1.7858	0.03041	0.1218:0.207:0.4589:0.2123	.	148	P19652	A1AG2_HUMAN	N	148	ENSP00000394936:K148N	ENSP00000394936:K148N	K	+	3	2	ORM2	116133934	0.000000	0.05858	0.003000	0.11579	0.103000	0.19146	0.069000	0.14552	0.315000	0.23110	0.544000	0.68410	AAG		PASS	0.612	ORM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055432.1	NM_000608		15	44	15	44	---	---	---	---
TNC	3371	broad.mit.edu	37	9	117793909	117793909	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr9:117793909G>T	ENST00000350763.4	-	23	6254	c.5843C>A	c.(5842-5844)tCc>tAc	p.S1948Y	TNC_ENST00000340094.3_Missense_Mutation_p.S1584Y|TNC_ENST00000346706.3_Missense_Mutation_p.S1402Y|TNC_ENST00000423613.2_Missense_Mutation_p.S1675Y|TNC_ENST00000542877.1_Missense_Mutation_p.S1585Y|TNC_ENST00000535648.1_Missense_Mutation_p.S1493Y|TNC_ENST00000537320.1_Missense_Mutation_p.S1311Y|TNC_ENST00000341037.4_Missense_Mutation_p.S1766Y|TNC_ENST00000345230.3_Missense_Mutation_p.S1311Y	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1948	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.S1948Y(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GTAGTGGGTGGATGGGCTCAG	0.512																																						uc004bjj.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						c.(5842-5844)TCC>TAC		tenascin C precursor							202.0	175.0	184.0					9																	117793909		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117793909G>T		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.5843C>A	9.37:g.117793909G>T	ENSP00000265131:p.Ser1948Tyr					TNC_uc010mvf.2_Missense_Mutation_p.S1675Y	p.S1948Y	NM_002160	NP_002151	P24821	TENA_HUMAN			23	6205	-			1948			Fibronectin type-III 15.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.5843C>A	CCDS6811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.6|25.6	4.650408|4.650408	0.87958|0.87958	.|.	.|.	ENSG00000041982|ENSG00000041982	ENST00000442945|ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	.|T;T;T;T;T;T;T;T;T	.|0.57436	.|0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4	5.84|5.84	5.84|5.84	0.93424|0.93424	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.70150	.|0.3191	L|L	0.51853|0.51853	1.615|1.615	0.33394|0.33394	D|D	0.576506|0.576506	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.999	.|T	.|0.75602	.|-0.3261	.|10	.|0.87932	.|D	.|0	.|.	20.2046|20.2046	0.98273|0.98273	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1675;1948	.|E9PC84;P24821	.|.;TENA_HUMAN	.|Y	-1|1584;1493;1402;1311;1948;1766;1675;1311;1585	.|ENSP00000344400:S1584Y;ENSP00000438152:S1493Y;ENSP00000344555:S1402Y;ENSP00000345861:S1311Y;ENSP00000265131:S1948Y;ENSP00000339553:S1766Y;ENSP00000411406:S1675Y;ENSP00000443478:S1311Y;ENSP00000442242:S1585Y	.|ENSP00000344400:S1584Y	.|S	-|-	.|2	.|0	TNC|TNC	116833730|116833730	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.824000|0.824000	0.46624|0.46624	9.472000|9.472000	0.97709|0.97709	2.780000|2.780000	0.95670|0.95670	0.650000|0.650000	0.86243|0.86243	.|TCC		PASS	0.512	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		99	67	99	67	---	---	---	---
BRINP1	1620	broad.mit.edu	37	9	122004458	122004458	+	Missense_Mutation	SNP	C	C	A	rs571679824	byFrequency	TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr9:122004458C>A	ENST00000265922.3	-	4	907	c.446G>T	c.(445-447)cGc>cTc	p.R149L	BRINP1_ENST00000373964.2_Missense_Mutation_p.R149L	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	149	MACPF.				cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)		p.R149L(1)									CCTGTCGAGGCGACTTTTGTC	0.493																																						uc004bkc.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						c.(445-447)CGC>CTC		deleted in bladder cancer 1 precursor							127.0	102.0	110.0					9																	122004458		2203	4300	6503	SO:0001583	missense	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:122004458C>A	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.446G>T	9.37:g.122004458C>A	ENSP00000265922:p.Arg149Leu					DBC1_uc004bkd.2_Missense_Mutation_p.R149L	p.R149L	NM_014618	NP_055433	O60477	DBC1_HUMAN			4	902	-			149			MACPF.		Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.446G>T	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.019747	0.54576	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	D;D	0.83914	-1.78;-1.78	5.64	3.8	0.43715	Membrane attack complex component/perforin (MACPF) domain (2);	0.192158	0.53938	D	0.000057	T	0.74099	0.3672	L	0.29908	0.895	0.46061	D	0.998849	B;B	0.21071	0.051;0.015	B;B	0.19148	0.024;0.017	T	0.70368	-0.4891	10	0.87932	D	0	-13.1921	12.0573	0.53542	0.0:0.861:0.0:0.139	.	149;149	O60477-2;O60477	.;DBC1_HUMAN	L	149	ENSP00000265922:R149L;ENSP00000363075:R149L	ENSP00000265922:R149L	R	-	2	0	DBC1	121044279	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.018000	0.40991	0.859000	0.35456	0.561000	0.74099	CGC		PASS	0.493	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		35	38	35	38	---	---	---	---
MRPL41	64975	broad.mit.edu	37	9	140446840	140446840	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr9:140446840G>T	ENST00000371443.5	+	2	1095	c.307G>T	c.(307-309)Gac>Tac	p.D103Y	DPH7_ENST00000479650.1_5'Flank|PNPLA7_ENST00000406427.1_5'Flank|PNPLA7_ENST00000277531.4_5'Flank	NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN	mitochondrial ribosomal protein L41	103					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.D103Y(1)		breast(1)|lung(1)	2	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		CATCGAAAAGGACTTCAAGGA	0.612																																						uc004cnh.3																			1	Substitution - Missense(1)		lung(1)		0						c.(307-309)GAC>TAC		mitochondrial ribosomal protein L41							41.0	35.0	37.0					9																	140446840		2203	4300	6503	SO:0001583	missense	64975				apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr9:140446840G>T	AB051625	CCDS7046.1	9q34.3	2012-09-13			ENSG00000182154	ENSG00000182154		"""Mitochondrial ribosomal proteins / large subunits"""	14492	protein-coding gene	gene with protein product		611846				11543634	Standard	NM_032477		Approved	MRP-L27, RPML27, BMRP, PIG3, MRPL27	uc004cnh.4	Q8IXM3	OTTHUMG00000020987	ENST00000371443.5:c.307G>T	9.37:g.140446840G>T	ENSP00000360498:p.Asp103Tyr					PNPLA7_uc010ncj.1_5'Flank|PNPLA7_uc004cnf.2_5'Flank	p.D103Y	NM_032477	NP_115866	Q8IXM3	RM41_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)	2	437	+	all_cancers(76;0.106)		103					Q96Q49	Missense_Mutation	SNP	ENST00000371443.5	37	c.307G>T	CCDS7046.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076479	0.76415	.	.	ENSG00000182154	ENST00000371443	.	.	.	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.84570	0.5501	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87818	0.2636	9	0.87932	D	0	.	17.0422	0.86492	0.0:0.0:1.0:0.0	.	103	Q8IXM3	RM41_HUMAN	Y	103	.	ENSP00000360498:D103Y	D	+	1	0	MRPL41	139566661	1.000000	0.71417	0.962000	0.40283	0.100000	0.18952	8.998000	0.93550	2.505000	0.84491	0.555000	0.69702	GAC		PASS	0.612	MRPL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055327.1	NM_032477		31	21	31	21	---	---	---	---
ITIH2	3698	broad.mit.edu	37	10	7762836	7762836	+	Missense_Mutation	SNP	C	C	G	rs376962514		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr10:7762836C>G	ENST00000358415.4	+	7	814	c.648C>G	c.(646-648)atC>atG	p.I216M	ITIH2_ENST00000480387.1_3'UTR|ITIH2_ENST00000379587.4_Missense_Mutation_p.I205M	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	216					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.I216M(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TGTGGGTTATCGAACCACAGG	0.393																																						uc001ijs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(646-648)ATC>ATG		inter-alpha globulin inhibitor H2 polypeptide							137.0	120.0	126.0					10																	7762836		2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7762836C>G	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.648C>G	10.37:g.7762836C>G	ENSP00000351190:p.Ile216Met						p.I216M	NM_002216	NP_002207	P19823	ITIH2_HUMAN			7	810	+			216					Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.648C>G	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	C	6.100	0.386649	0.11524	.	.	ENSG00000151655	ENST00000358415;ENST00000429820;ENST00000379587	T;T;T	0.18338	4.84;2.22;4.84	5.11	-0.567	0.11763	.	0.228496	0.44688	D	0.000429	T	0.14184	0.0343	M	0.65975	2.015	0.30514	N	0.769175	B	0.10296	0.003	B	0.13407	0.009	T	0.11690	-1.0577	10	0.66056	D	0.02	-19.3709	1.6234	0.02718	0.1246:0.2444:0.1292:0.5018	.	216	P19823	ITIH2_HUMAN	M	216;191;205	ENSP00000351190:I216M;ENSP00000388826:I191M;ENSP00000368906:I205M	ENSP00000351190:I216M	I	+	3	3	ITIH2	7802842	0.974000	0.33945	0.985000	0.45067	0.008000	0.06430	-0.106000	0.10890	-0.424000	0.07382	-0.485000	0.04761	ATC		PASS	0.393	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		31	56	31	56	---	---	---	---
USP6NL	9712	broad.mit.edu	37	10	11505306	11505306	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr10:11505306C>A	ENST00000609104.1	-	15	2015	c.1621G>T	c.(1621-1623)Gac>Tac	p.D541Y	USP6NL_ENST00000277575.5_Missense_Mutation_p.D558Y|USP6NL_ENST00000379237.2_Missense_Mutation_p.D564Y	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	541					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.D558Y(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CGCTTCCCGTCCTCAGCATCC	0.667																																						uc001ikt.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1621-1623)GAC>TAC		USP6 N-terminal like isoform 1							72.0	76.0	75.0					10																	11505306		2112	4218	6330	SO:0001583	missense	9712					intracellular	Rab GTPase activator activity	g.chr10:11505306C>A	BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"""related to the N terminus of tre"""	605405	"""USP6NL intronic transcript 1 (non-protein coding)"""	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.1621G>T	10.37:g.11505306C>A	ENSP00000476462:p.Asp541Tyr					USP6NL_uc001iks.1_Missense_Mutation_p.D558Y	p.D541Y	NM_014688	NP_055503	Q92738	US6NL_HUMAN			15	1942	-			541					A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	ENST00000609104.1	37	c.1621G>T	CCDS53492.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700073	0.48307	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.04551	3.6;3.61	5.91	5.91	0.95273	.	0.318380	0.32430	N	0.006119	T	0.05686	0.0149	N	0.08118	0	0.29731	N	0.837868	P;P	0.48016	0.845;0.904	B;P	0.47251	0.34;0.542	T	0.10268	-1.0637	10	0.72032	D	0.01	.	18.4752	0.90790	0.0:1.0:0.0:0.0	.	541;558	Q92738;Q92738-2	US6NL_HUMAN;.	Y	541;558;541	ENSP00000277575:D558Y;ENSP00000368539:D541Y	ENSP00000277575:D558Y	D	-	1	0	USP6NL	11545312	1.000000	0.71417	0.117000	0.21633	0.360000	0.29518	3.944000	0.56629	2.804000	0.96469	0.462000	0.41574	GAC		PASS	0.667	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688		35	73	35	73	---	---	---	---
ZNF239	8187	broad.mit.edu	37	10	44053146	44053146	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr10:44053146C>A	ENST00000306006.6	-	2	1034	c.382G>T	c.(382-384)Gcc>Tcc	p.A128S	ZNF239_ENST00000535642.1_Missense_Mutation_p.A128S|ZNF239_ENST00000426961.1_Missense_Mutation_p.A128S|ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000374446.2_Missense_Mutation_p.A128S	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	128					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A128S(1)		endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AATGGCGAGGCCAGTTCTTGT	0.418																																						uc001jaw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(382-384)GCC>TCC		zinc finger protein 239							114.0	104.0	107.0					10																	44053146		1855	4095	5950	SO:0001583	missense	8187				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding	g.chr10:44053146C>A	X82125	CCDS41502.1	10q11.22-q11.23	2013-01-08			ENSG00000196793	ENSG00000196793		"""Zinc fingers, C2H2-type"""	13031	protein-coding gene	gene with protein product		601069				8903737, 8587123	Standard	NM_005674		Approved	MOK2, HOK-2	uc009xmk.3	Q16600	OTTHUMG00000018033	ENST00000306006.6:c.382G>T	10.37:g.44053146C>A	ENSP00000307774:p.Ala128Ser					ZNF239_uc001jax.3_Missense_Mutation_p.A128S|ZNF239_uc009xmj.2_Missense_Mutation_p.A128S|ZNF239_uc009xmk.2_Missense_Mutation_p.A128S	p.A128S	NM_005674	NP_005665	Q16600	ZN239_HUMAN			2	1035	-			128					Q5T1G9|Q8TAS5	Missense_Mutation	SNP	ENST00000306006.6	37	c.382G>T	CCDS41502.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.796204	0.31777	.	.	ENSG00000196793	ENST00000306006;ENST00000374446;ENST00000426961;ENST00000535642;ENST00000339962	T;T;T;T	0.05649	3.41;3.41;3.41;3.41	4.37	3.46	0.39613	.	.	.	.	.	T	0.03477	0.0100	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.11329	0.006	T	0.43686	-0.9376	9	0.22706	T	0.39	.	8.5756	0.33597	0.0:0.8965:0.0:0.1035	.	128	Q16600	ZN239_HUMAN	S	128	ENSP00000307774:A128S;ENSP00000363569:A128S;ENSP00000398202:A128S;ENSP00000443907:A128S	ENSP00000307774:A128S	A	-	1	0	ZNF239	43373152	.	.	0.002000	0.10522	0.050000	0.14768	.	.	1.436000	0.47453	0.655000	0.94253	GCC		PASS	0.418	ZNF239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047710.1			52	84	52	84	---	---	---	---
GPRIN2	9721	broad.mit.edu	37	10	46999982	46999982	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr10:46999982C>G	ENST00000374317.1	+	3	1375	c.1102C>G	c.(1102-1104)Ctg>Gtg	p.L368V	GPRIN2_ENST00000374314.4_Missense_Mutation_p.L368V	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	368								p.L368V(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AGAGGTAACTCTGGGGTCCAG	0.667																																						uc001jec.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1102-1104)CTG>GTG		G protein-regulated inducer of neurite outgrowth							133.0	119.0	124.0					10																	46999982		2203	4300	6503	SO:0001583	missense	9721							g.chr10:46999982C>G	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.1102C>G	10.37:g.46999982C>G	ENSP00000363436:p.Leu368Val					GPRIN2_uc010qfq.1_Missense_Mutation_p.L131V	p.L368V	NM_014696	NP_055511	O60269	GRIN2_HUMAN			3	1237	+			368					Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	c.1102C>G	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	C	5.714	0.316264	0.10789	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.22336	1.96;1.96	4.85	1.91	0.25777	.	0.253457	0.20905	N	0.083570	T	0.27489	0.0675	L	0.43152	1.355	0.09310	N	1	D	0.60160	0.987	P	0.59357	0.856	T	0.03684	-1.1013	10	0.52906	T	0.07	-5.6541	5.7221	0.17992	0.0:0.6451:0.1653:0.1896	.	368	O60269	GRIN2_HUMAN	V	368	ENSP00000363436:L368V;ENSP00000363433:L368V	ENSP00000363433:L368V	L	+	1	2	GPRIN2	46419988	0.010000	0.17322	0.088000	0.20740	0.019000	0.09904	0.134000	0.15932	0.583000	0.29574	-0.676000	0.03789	CTG		PASS	0.667	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		23	46	23	46	---	---	---	---
DUPD1	338599	broad.mit.edu	37	10	76797658	76797658	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr10:76797658A>T	ENST00000338487.5	-	3	598	c.599T>A	c.(598-600)cTg>cAg	p.L200Q		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	200	Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.L200Q(1)		breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CTGCTGCACCAGCTGCTTGTC	0.657																																						uc001jwq.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(598-600)CTG>CAG		dual specificity phosphatase and pro isomerase							61.0	61.0	61.0					10																	76797658		2203	4300	6503	SO:0001583	missense	338599					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76797658A>T		CCDS31223.1	10q22.3	2011-06-09			ENSG00000188716	ENSG00000188716		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	23481	protein-coding gene	gene with protein product							Standard	NM_001003892		Approved	DUSP27	uc001jwq.1	Q68J44	OTTHUMG00000018512	ENST00000338487.5:c.599T>A	10.37:g.76797658A>T	ENSP00000340609:p.Leu200Gln						p.L200Q	NM_001003892	NP_001003892	Q68J44	DUPD1_HUMAN			3	599	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		200			Tyrosine-protein phosphatase.		B2RP93	Missense_Mutation	SNP	ENST00000338487.5	37	c.599T>A	CCDS31223.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.805246	0.90623	.	.	ENSG00000188716	ENST00000338487	T	0.68181	-0.31	4.97	4.97	0.65823	Dual specificity phosphatase, subgroup, catalytic domain (1);	0.149693	0.43579	D	0.000557	D	0.85008	0.5599	M	0.91612	3.225	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.88668	0.3193	10	0.87932	D	0	-14.9336	14.8642	0.70401	1.0:0.0:0.0:0.0	.	200	Q68J44	DUPD1_HUMAN	Q	200	ENSP00000340609:L200Q	ENSP00000340609:L200Q	L	-	2	0	DUPD1	76467664	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.325000	0.90007	2.107000	0.64212	0.454000	0.30748	CTG		PASS	0.657	DUPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048777.2	XM_291741		43	47	43	47	---	---	---	---
GRID1	2894	broad.mit.edu	37	10	87489309	87489309	+	Silent	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr10:87489309G>A	ENST00000327946.7	-	9	1381	c.1296C>T	c.(1294-1296)agC>agT	p.S432S	GRID1_ENST00000536331.1_Silent_p.S3S	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	432					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.S432S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CTTGGAGGCGGCTGCCCATGG	0.517										Multiple Myeloma(13;0.14)																												uc001kdl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(1294-1296)AGC>AGT		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						86.0	83.0	84.0					10																	87489309		2203	4300	6503	SO:0001819	synonymous_variant	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87489309G>A	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1296C>T	10.37:g.87489309G>A		Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Silent_p.S3S	p.S432S	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			9	1397	-			432			Extracellular (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	ENST00000327946.7	37	c.1296C>T	CCDS31236.1																																																																																				PASS	0.517	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		3	42	3	42	---	---	---	---
HSPA12A	259217	broad.mit.edu	37	10	118434309	118434309	+	Missense_Mutation	SNP	C	C	T	rs536208223		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr10:118434309C>T	ENST00000369209.3	-	12	2115	c.2011G>A	c.(2011-2013)Gac>Aac	p.D671N	RP11-498B4.5_ENST00000433600.1_RNA	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	671						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.D1292N(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TTTAAGAAGTCGATCCCAACT	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		17211	0.0		0.001	False		,,,				2504	0.0					uc001lct.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2011-2013)GAC>AAC		heat shock 70kDa protein 12A							51.0	57.0	55.0					10																	118434309		1960	4137	6097	SO:0001583	missense	259217						ATP binding	g.chr10:118434309C>T	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.2011G>A	10.37:g.118434309C>T	ENSP00000358211:p.Asp671Asn					HSPA12A_uc001lcu.2_Missense_Mutation_p.D588N	p.D671N	NM_025015	NP_079291	O43301	HS12A_HUMAN		all cancers(201;0.0158)	12	2116	-			671						Missense_Mutation	SNP	ENST00000369209.3	37	c.2011G>A	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424469	0.83667	.	.	ENSG00000165868	ENST00000369209	T	0.60424	0.19	6.02	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.74107	0.3673	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76091	-0.3086	10	0.52906	T	0.07	-36.3617	15.5172	0.75833	0.0:0.9339:0.0:0.0661	.	671	O43301	HS12A_HUMAN	N	671	ENSP00000358211:D671N	ENSP00000358211:D671N	D	-	1	0	HSPA12A	118424299	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.696000	0.68287	1.568000	0.49683	-0.137000	0.14449	GAC		PASS	0.522	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		28	43	28	43	---	---	---	---
DMBT1	1755	broad.mit.edu	37	10	124358454	124358454	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr10:124358454T>A	ENST00000338354.3	+	26	3227	c.3121T>A	c.(3121-3123)Tca>Aca	p.S1041T	DMBT1_ENST00000368956.2_Missense_Mutation_p.S542T|DMBT1_ENST00000368909.3_Missense_Mutation_p.S1041T|DMBT1_ENST00000368955.3_Missense_Mutation_p.S1031T|DMBT1_ENST00000330163.4_Missense_Mutation_p.S542T|DMBT1_ENST00000344338.3_Missense_Mutation_p.S1031T|DMBT1_ENST00000359586.6_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1041	SRCR 8. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.S1041T(3)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTGGGCCATGTCAGCCCCAGG	0.607																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(7)	7						c.(3121-3123)TCA>ACA		deleted in malignant brain tumors 1 isoform b							193.0	193.0	193.0					10																	124358454		2015	4198	6213	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124358454T>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.3121T>A	10.37:g.124358454T>A	ENSP00000342210:p.Ser1041Thr					DMBT1_uc001lgl.1_Missense_Mutation_p.S1031T|DMBT1_uc001lgm.1_Missense_Mutation_p.S542T|DMBT1_uc009xzz.1_Missense_Mutation_p.S1041T|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.S2T	p.S1041T	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			26	3227	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1041			SRCR 8.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.3121T>A		.	.	.	.	.	.	.	.	.	.	T	13.82	2.350524	0.41599	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91	3.57	2.29	0.28610	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.989056	0.08205	N	0.981706	T	0.49236	0.1545	M	0.66378	2.025	0.09310	N	1	P;P;D;P;P	0.60160	0.721;0.643;0.987;0.47;0.525	B;B;P;B;B	0.51833	0.428;0.246;0.681;0.153;0.237	T	0.35126	-0.9801	10	0.45353	T	0.12	.	6.3659	0.21455	0.1366:0.0:0.2587:0.6047	.	548;1041;542;1031;1041	Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;DMBT1_HUMAN	T	1041;1041;1041;1041;1041;1041;542;1031;542;542;1041;1031;542	ENSP00000342210:S1041T;ENSP00000343175:S1031T;ENSP00000327747:S542T;ENSP00000357905:S1041T;ENSP00000357951:S1031T;ENSP00000357952:S542T	ENSP00000331522:S542T	S	+	1	0	DMBT1	124348444	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-1.391000	0.02525	1.402000	0.46780	0.456000	0.33151	TCA		PASS	0.607	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		93	139	93	139	---	---	---	---
IKZF5	64376	broad.mit.edu	37	10	124754084	124754084	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr10:124754084T>C	ENST00000368886.5	-	5	792	c.472A>G	c.(472-474)Agg>Ggg	p.R158G	PSTK_ENST00000497219.1_Intron	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	158					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R158G(1)		endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		TGCTTGCGCCTTCGATGATGG	0.423																																						uc001lha.2																			1	Substitution - Missense(1)		lung(1)		0						c.(472-474)AGG>GGG		zinc finger protein, subfamily 1A, 5							134.0	121.0	125.0					10																	124754084		1949	4148	6097	SO:0001583	missense	64376				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:124754084T>C	AF230808	CCDS41574.1	10q26	2011-05-31	2006-08-25	2006-08-25	ENSG00000095574	ENSG00000095574		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	14283	protein-coding gene	gene with protein product		606238	"""zinc finger protein, subfamily 1A, 5"", ""zinc finger protein, subfamily 1A, 5 (Pegasus)"""	ZNFN1A5		10978333	Standard	NM_001271840		Approved	Pegasus, FLJ22973	uc021qaj.2	Q9H5V7	OTTHUMG00000019192	ENST00000368886.5:c.472A>G	10.37:g.124754084T>C	ENSP00000357881:p.Arg158Gly					IKZF5_uc001lgz.2_5'UTR	p.R158G	NM_022466	NP_071911	Q9H5V7	IKZF5_HUMAN		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)	5	771	-		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)	158			C2H2-type 3.		B3KVH7|D3DRE7|Q9H2T0	Missense_Mutation	SNP	ENST00000368886.5	37	c.472A>G	CCDS41574.1	.	.	.	.	.	.	.	.	.	.	T	17.21	3.331599	0.60853	.	.	ENSG00000095574	ENST00000368886	T	0.09911	2.93	5.95	4.8	0.61643	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.22322	0.0538	L	0.32530	0.975	0.58432	D	0.999994	D	0.76494	0.999	D	0.78314	0.991	T	0.00822	-1.1552	10	0.87932	D	0	-32.4827	13.0544	0.58971	0.0:0.0:0.2518:0.7481	.	158	Q9H5V7	IKZF5_HUMAN	G	158	ENSP00000357881:R158G	ENSP00000357881:R158G	R	-	1	2	IKZF5	124744074	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.279000	0.43435	1.048000	0.40298	0.533000	0.62120	AGG		PASS	0.423	IKZF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050820.2	NM_022466		46	52	46	52	---	---	---	---
FAM53B	9679	broad.mit.edu	37	10	126370538	126370538	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr10:126370538C>A	ENST00000337318.3	-	4	755	c.544G>T	c.(544-546)Gac>Tac	p.D182Y	FAM53B_ENST00000392754.3_Missense_Mutation_p.D182Y|FAM53B_ENST00000280780.6_Missense_Mutation_p.D182Y|RP11-12J10.3_ENST00000494792.1_3'UTR	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	182								p.D182Y(1)		cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		CCTGCCTGGTCGCAGGGTGAG	0.662																																						uc001lhv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(544-546)GAC>TAC		hypothetical protein LOC9679							41.0	43.0	42.0					10																	126370538		2203	4300	6503	SO:0001583	missense	9679							g.chr10:126370538C>A	D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"""KIAA0140"""	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.544G>T	10.37:g.126370538C>A	ENSP00000338532:p.Asp182Tyr					FAM53B_uc001lhu.1_Missense_Mutation_p.D182Y|FAM53B_uc001lhw.2_Missense_Mutation_p.D182Y	p.D182Y	NM_014661	NP_055476	Q14153	FA53B_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)	4	1067	-		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)	182					D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Missense_Mutation	SNP	ENST00000337318.3	37	c.544G>T	CCDS7641.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.366299	0.01235	.	.	ENSG00000189319	ENST00000337318;ENST00000392754;ENST00000280780	T;T;T	0.47177	0.85;0.85;0.85	4.15	3.25	0.37280	.	0.253427	0.31809	N	0.007026	T	0.40694	0.1127	L	0.43152	1.355	0.38857	D	0.956403	P;P;P	0.47962	0.784;0.903;0.784	P;P;P	0.47162	0.54;0.54;0.54	T	0.40813	-0.9543	10	0.02654	T	1	-17.784	13.3516	0.60605	0.0:0.7732:0.2268:0.0	.	182;182;182	Q14153-2;Q14153;B3KMZ2	.;FA53B_HUMAN;.	Y	182	ENSP00000338532:D182Y;ENSP00000376509:D182Y;ENSP00000280780:D182Y	ENSP00000280780:D182Y	D	-	1	0	FAM53B	126360528	0.959000	0.32827	0.979000	0.43373	0.094000	0.18550	2.088000	0.41663	1.339000	0.45563	0.655000	0.94253	GAC		PASS	0.662	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050879.1	NM_014661		25	33	25	33	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6655498	6655498	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr11:6655498G>T	ENST00000299441.3	-	3	2248	c.1837C>A	c.(1837-1839)Ctc>Atc	p.L613I	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	613	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L613I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAATAGGAGAGGAGGCCAAAT	0.602																																						uc001mem.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|pancreas(1)	5						c.(1837-1839)CTC>ATC		dachsous 1 precursor							80.0	89.0	86.0					11																	6655498		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6655498G>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.1837C>A	11.37:g.6655498G>T	ENSP00000299441:p.Leu613Ile						p.L613I	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	3	2247	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	613			Cadherin 6.|Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.1837C>A	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.327581	0.24080	.	.	ENSG00000166341	ENST00000299441	T	0.44482	0.92	4.88	4.88	0.63580	Cadherin (4);Cadherin-like (1);	0.000000	0.40908	D	0.000996	T	0.28067	0.0692	N	0.02685	-0.53	0.31263	N	0.692656	P	0.48162	0.906	P	0.52646	0.705	T	0.07233	-1.0783	10	0.07325	T	0.83	.	15.3623	0.74487	0.0:0.0:1.0:0.0	.	613	Q96JQ0	PCD16_HUMAN	I	613	ENSP00000299441:L613I	ENSP00000299441:L613I	L	-	1	0	DCHS1	6612074	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.931000	0.40134	2.541000	0.85698	0.655000	0.94253	CTC		PASS	0.602	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		18	81	18	81	---	---	---	---
OR10A4	283297	broad.mit.edu	37	11	6898035	6898035	+	Missense_Mutation	SNP	G	G	T	rs544218211		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr11:6898035G>T	ENST00000379829.2	+	1	180	c.157G>T	c.(157-159)Gac>Tac	p.D53Y		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	53					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D53Y(1)		kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CACTATAGCTGACTCTGCACT	0.458																																						uc010rat.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(157-159)GAC>TAC		olfactory receptor, family 10, subfamily A,							191.0	179.0	183.0					11																	6898035		2201	4296	6497	SO:0001583	missense	283297				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6898035G>T	AF209506	CCDS7774.1	11p15.4	2012-08-09	2002-11-13	2004-03-10	ENSG00000170782	ENSG00000170782		"""GPCR / Class A : Olfactory receptors"""	15130	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily A, member 4 pseudogene"""	OR10A4P			Standard	NM_207186		Approved		uc010rat.2	Q9H209	OTTHUMG00000165740	ENST00000379829.2:c.157G>T	11.37:g.6898035G>T	ENSP00000369157:p.Asp53Tyr						p.D53Y	NM_207186	NP_997069	Q9H209	O10A4_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	157	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	53			Cytoplasmic (Potential).		B2RNP5|B9EH36|Q96R20	Missense_Mutation	SNP	ENST00000379829.2	37	c.157G>T	CCDS7774.1	.	.	.	.	.	.	.	.	.	.	g	11.40	1.628151	0.28978	.	.	ENSG00000170782	ENST00000379829	T	0.02974	4.09	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000249	T	0.20129	0.0484	M	0.91612	3.225	0.36651	D	0.877402	D	0.76494	0.999	D	0.70016	0.967	T	0.12319	-1.0552	10	0.87932	D	0	.	15.9958	0.80243	0.0:0.0:1.0:0.0	.	53	Q9H209	O10A4_HUMAN	Y	53	ENSP00000369157:D53Y	ENSP00000369157:D53Y	D	+	1	0	OR10A4	6854611	0.693000	0.27728	1.000000	0.80357	0.035000	0.12851	0.768000	0.26590	2.716000	0.92895	0.655000	0.94253	GAC		PASS	0.458	OR10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385985.1	NM_207186		77	173	77	173	---	---	---	---
INSC	387755	broad.mit.edu	37	11	15197542	15197542	+	Silent	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr11:15197542C>T	ENST00000379554.3	+	3	499	c.453C>T	c.(451-453)caC>caT	p.H151H	INSC_ENST00000530161.1_Silent_p.H104H|INSC_ENST00000424273.1_Silent_p.H104H|INSC_ENST00000528567.1_Silent_p.H104H|INSC_ENST00000379556.3_Silent_p.H104H|INSC_ENST00000525218.1_Silent_p.H104H	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	151					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)		p.H151H(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CACGGGTGCACAGCATGAGCG	0.632																																						uc001mly.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						c.(451-453)CAC>CAT		inscuteable isoform a							21.0	23.0	22.0					11																	15197542		2073	4207	6280	SO:0001819	synonymous_variant	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15197542C>T	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.453C>T	11.37:g.15197542C>T						INSC_uc001mlz.2_Silent_p.H104H|INSC_uc001mma.2_Silent_p.H104H|INSC_uc010rcs.1_Silent_p.H104H|INSC_uc001mmb.2_Silent_p.H104H|INSC_uc001mmc.2_Silent_p.H104H	p.H151H	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN			3	499	+			151					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Silent	SNP	ENST00000379554.3	37	c.453C>T	CCDS41621.1																																																																																				PASS	0.632	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		10	5	10	5	---	---	---	---
MYOD1	4654	broad.mit.edu	37	11	17742502	17742502	+	Silent	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr11:17742502C>T	ENST00000250003.3	+	2	899	c.684C>T	c.(682-684)ggC>ggT	p.G228G		NM_002478.4	NP_002469.2	P15172	MYOD1_HUMAN	myogenic differentiation 1	228					cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to oxygen levels (GO:0071453)|cellular response to starvation (GO:0009267)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|myoblast fate determination (GO:0007518)|myotube cell development (GO:0014904)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|transcription from RNA polymerase II promoter (GO:0006366)	myofibril (GO:0030016)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|transcription coactivator activity (GO:0003713)	p.G228G(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						GCTACGAAGGCGCCTACTACA	0.677																																						uc001mni.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)	3						c.(682-684)GGC>GGT		myogenic differentiation 1							13.0	17.0	15.0					11																	17742502		2195	4282	6477	SO:0001819	synonymous_variant	4654				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr11:17742502C>T	AF027148	CCDS7826.1	11p15	2013-05-21	2005-09-12			ENSG00000129152		"""Basic helix-loop-helix proteins"""	7611	protein-coding gene	gene with protein product	"""myoblast determination protein 1"""	159970	"""myogenic factor 3"""	MYF3			Standard	NM_002478		Approved	PUM, MYOD, bHLHc1	uc001mni.3	P15172		ENST00000250003.3:c.684C>T	11.37:g.17742502C>T							p.G228G	NM_002478	NP_002469	P15172	MYOD1_HUMAN			2	904	+			228					O75321	Silent	SNP	ENST00000250003.3	37	c.684C>T	CCDS7826.1																																																																																				PASS	0.677	MYOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389387.1	NM_002478		8	10	8	10	---	---	---	---
NAV2	89797	broad.mit.edu	37	11	20070399	20070399	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr11:20070399G>C	ENST00000396087.3	+	16	4196	c.4097G>C	c.(4096-4098)gGc>gCc	p.G1366A	NAV2_ENST00000540292.1_Missense_Mutation_p.G1297A|NAV2_ENST00000311043.8_Missense_Mutation_p.G429A|NAV2_ENST00000396085.1_Missense_Mutation_p.G1343A|NAV2_ENST00000533917.1_Missense_Mutation_p.G429A|NAV2_ENST00000349880.4_Missense_Mutation_p.G1343A|NAV2_ENST00000527559.2_Missense_Mutation_p.G1295A|NAV2_ENST00000360655.4_Missense_Mutation_p.G1279A|NAV2-AS2_ENST00000533767.1_RNA	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1366	Ser-rich.				glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.G1366A(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCCCCGTCAGGCAGTGGCGTC	0.567																																						uc010rdm.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(1)|pancreas(1)	6						c.(4096-4098)GGC>GCC		neuron navigator 2 isoform 2							141.0	119.0	126.0					11																	20070399		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20070399G>C	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.4097G>C	11.37:g.20070399G>C	ENSP00000379396:p.Gly1366Ala					NAV2_uc001mpp.2_Missense_Mutation_p.G1279A|NAV2_uc001mpr.3_Missense_Mutation_p.G1343A|NAV2_uc001mpt.2_Missense_Mutation_p.G429A|NAV2_uc009yhx.2_Missense_Mutation_p.G429A|NAV2_uc009yhy.1_Missense_Mutation_p.G342A|NAV2_uc009yhz.2_Missense_Mutation_p.G25A	p.G1366A	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN			16	4458	+			1366			Ser-rich.		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.4097G>C	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745771	0.69418	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	T;T;T;T;T;T;T;T;T	0.32515	1.45;1.55;1.55;1.56;1.45;1.45;3.17;1.82;3.17	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	T	0.43366	0.1244	N	0.25890	0.77	0.80722	D	1	D;P;B;P;D;P	0.71674	0.998;0.605;0.319;0.565;0.994;0.838	D;B;B;B;D;P	0.65010	0.931;0.194;0.069;0.217;0.928;0.469	T	0.06215	-1.0839	9	.	.	.	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	1343;1366;429;429;1343;1279	A7E2D6;Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;NAV2_HUMAN;.;.;.;.	A	1279;1343;1343;1366;1295;1297;429;429;429;429	ENSP00000353871:G1279A;ENSP00000379394:G1343A;ENSP00000309577:G1343A;ENSP00000379396:G1366A;ENSP00000435395:G1295A;ENSP00000443489:G1297A;ENSP00000437316:G429A;ENSP00000437136:G429A;ENSP00000312169:G429A	.	G	+	2	0	NAV2	20026975	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.895000	0.87343	2.941000	0.99782	0.655000	0.94253	GGC		PASS	0.567	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		34	100	34	100	---	---	---	---
ANO5	203859	broad.mit.edu	37	11	22283735	22283735	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr11:22283735A>G	ENST00000324559.8	+	16	2008	c.1691A>G	c.(1690-1692)cAg>cGg	p.Q564R	CTD-3064C13.1_ENST00000526935.1_RNA	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	564					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)	p.Q564R(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTCCTGTTTCAGTTTGTAAAT	0.333																																						uc001mqi.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(1690-1692)CAG>CGG		anoctamin 5 isoform a							154.0	151.0	152.0					11																	22283735		2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22283735A>G	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.1691A>G	11.37:g.22283735A>G	ENSP00000315371:p.Gln564Arg					ANO5_uc001mqj.2_Missense_Mutation_p.Q563R	p.Q564R	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			16	2008	+			564			Helical; (Potential).			Missense_Mutation	SNP	ENST00000324559.8	37	c.1691A>G	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	A	29.5	5.014832	0.93404	.	.	ENSG00000171714	ENST00000324559	T	0.66815	-0.23	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.84456	0.5476	M	0.87328	2.875	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87062	0.2154	10	0.87932	D	0	.	16.5763	0.84648	1.0:0.0:0.0:0.0	.	564	Q75V66	ANO5_HUMAN	R	564	ENSP00000315371:Q564R	ENSP00000315371:Q564R	Q	+	2	0	ANO5	22240311	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.326000	0.96389	2.317000	0.78254	0.459000	0.35465	CAG		PASS	0.333	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		33	139	33	139	---	---	---	---
GAS2	2620	broad.mit.edu	37	11	22770670	22770670	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr11:22770670G>C	ENST00000454584.2	+	6	783	c.478G>C	c.(478-480)Ggt>Cgt	p.G160R	GAS2_ENST00000278187.3_Missense_Mutation_p.G160R|GAS2_ENST00000433790.1_Missense_Mutation_p.G160R	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	160					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)		p.G160R(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TTAAAGGTATGGTGTGGAGCC	0.383																																						uc009yie.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(478-480)GGT>CGT		growth arrest-specific 2							74.0	78.0	77.0					11																	22770670		2203	4299	6502	SO:0001583	missense	2620				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane		g.chr11:22770670G>C	BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.478G>C	11.37:g.22770670G>C	ENSP00000401145:p.Gly160Arg					GAS2_uc001mqm.2_Missense_Mutation_p.G160R|GAS2_uc001mqn.2_RNA|GAS2_uc001mqo.2_Missense_Mutation_p.G160R	p.G160R	NM_001143830	NP_001137302	O43903	GAS2_HUMAN			6	784	+			160					B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Missense_Mutation	SNP	ENST00000454584.2	37	c.478G>C	CCDS7858.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371535	0.82573	.	.	ENSG00000148935	ENST00000528582;ENST00000454584;ENST00000278187;ENST00000532398;ENST00000433790	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	5.86	5.86	0.93980	Calponin homology domain (2);	0.097222	0.64402	D	0.000001	T	0.64023	0.2561	L	0.46157	1.445	0.58432	D	0.999999	D	0.63880	0.993	D	0.65010	0.931	T	0.62760	-0.6786	10	0.72032	D	0.01	-12.962	20.5632	0.99335	0.0:0.0:1.0:0.0	.	160	O43903	GAS2_HUMAN	R	160	ENSP00000432584:G160R;ENSP00000401145:G160R;ENSP00000278187:G160R;ENSP00000435946:G160R;ENSP00000396708:G160R	ENSP00000278187:G160R	G	+	1	0	GAS2	22727246	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.074000	0.76791	2.937000	0.99478	0.650000	0.86243	GGT		PASS	0.383	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1	NM_177553		24	57	24	57	---	---	---	---
DCDC1	341019	broad.mit.edu	37	11	30925176	30925176	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr11:30925176A>G	ENST00000597505.1	-	30	4362	c.4363T>C	c.(4363-4365)Tat>Cat	p.Y1455H	DCDC1_ENST00000406071.2_Missense_Mutation_p.Y190H|DCDC1_ENST00000339794.5_Missense_Mutation_p.Y534H			P59894	DCDC1_HUMAN	doublecortin domain containing 1	216					intracellular signal transduction (GO:0035556)			p.Y534H(1)|p.Y142H(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TCTTTGGTATATACTTTGGAG	0.443																																						uc001mss.1																			2	Substitution - Missense(2)		lung(2)										Homo sapiens mRNA for KIAA1493 protein, partial cds.							59.0	53.0	55.0					11																	30925176		2202	4298	6500	SO:0001583	missense	0							g.chr11:30925176A>G	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.4363T>C	11.37:g.30925176A>G	ENSP00000472625:p.Tyr1455His					uc009yjk.1_Missense_Mutation_p.Y903H|uc009yjj.1_RNA								10		-								A6PVL6|B7WNX6|Q6ZU04	RNA	SNP	ENST00000597505.1	37	c.1466T>C		.	.	.	.	.	.	.	.	.	.	A	12.84	2.057451	0.36277	.	.	ENSG00000170959	ENST00000406071;ENST00000339794	D;D	0.95412	-3.7;-3.7	5.53	5.53	0.82687	Doublecortin domain (2);	0.000000	0.56097	D	0.000038	D	0.97068	0.9042	M	0.75264	2.295	0.09310	N	0.999991	D	0.89917	1.0	D	0.85130	0.997	D	0.92565	0.6061	10	0.87932	D	0	-15.0848	10.3464	0.43909	0.8537:0.0:0.0:0.1463	.	534	Q6ZRR9	DCDC5_HUMAN	H	190;534	ENSP00000385936:Y190H;ENSP00000341700:Y534H	ENSP00000341700:Y534H	Y	-	1	0	DCDC5	30881752	0.990000	0.36364	0.255000	0.24374	0.024000	0.10985	5.505000	0.66981	2.225000	0.72522	0.533000	0.62120	TAT		PASS	0.443	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		8	18	8	18	---	---	---	---
MAPK8IP1	9479	broad.mit.edu	37	11	45923535	45923535	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr11:45923535C>A	ENST00000241014.2	+	4	697	c.527C>A	c.(526-528)aCa>aAa	p.T176K	MAPK8IP1_ENST00000395629.2_Missense_Mutation_p.T166K	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	176	JNK-binding domain (JBD).|Minimal inhibitory domain (MID).				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)	p.T176K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		GCACAGGACACACTGAATAAT	0.572																																						uc001nbr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(526-528)ACA>AAA		mitogen-activated protein kinase 8 interacting							231.0	234.0	233.0					11																	45923535		2203	4299	6502	SO:0001583	missense	9479				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity	g.chr11:45923535C>A		CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.527C>A	11.37:g.45923535C>A	ENSP00000241014:p.Thr176Lys						p.T176K	NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN		GBM - Glioblastoma multiforme(35;0.231)	4	697	+			176			JNK-binding domain (JBD).|Minimal inhibitory domain (MID).		D3DQP4|O43407	Missense_Mutation	SNP	ENST00000241014.2	37	c.527C>A	CCDS7916.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872517	0.91587	.	.	ENSG00000121653	ENST00000241014;ENST00000395629	T;T	0.46063	0.88;0.9	4.81	4.81	0.61882	.	0.117523	0.56097	D	0.000023	T	0.58380	0.2118	L	0.55990	1.75	0.80722	D	1	D	0.76494	0.999	P	0.61874	0.895	T	0.62315	-0.6880	10	0.87932	D	0	-15.0649	17.6791	0.88238	0.0:1.0:0.0:0.0	.	176	Q9UQF2	JIP1_HUMAN	K	176;166	ENSP00000241014:T176K;ENSP00000378991:T166K	ENSP00000241014:T176K	T	+	2	0	MAPK8IP1	45880111	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.167000	0.77562	2.504000	0.84457	0.561000	0.74099	ACA		PASS	0.572	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259405.1	NM_005456		54	264	54	264	---	---	---	---
CELF1	10658	broad.mit.edu	37	11	47496998	47496998	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr11:47496998G>C	ENST00000358597.3	-	10	1078	c.1079C>G	c.(1078-1080)aCt>aGt	p.T360S	CELF1_ENST00000532048.1_Missense_Mutation_p.T386S|CELF1_ENST00000395292.2_Missense_Mutation_p.T357S|CELF1_ENST00000395290.2_Missense_Mutation_p.T359S|CELF1_ENST00000361904.3_Missense_Mutation_p.T357S|CELF1_ENST00000531165.1_Missense_Mutation_p.T388S|CELF1_ENST00000310513.5_Missense_Mutation_p.T356S|CELF1_ENST00000539455.1_5'UTR			Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	360					embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of translation (GO:0017148)|positive regulation of multicellular organism growth (GO:0040018)|regulation of RNA splicing (GO:0043484)|RNA interference (GO:0016246)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation repressor activity, nucleic acid binding (GO:0000900)	p.T360S(1)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						GTAGGCCTGAGTGAGGGCCTC	0.552																																					Pancreas(163;1949 1966 9906 43218 43785)	uc001nfl.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1078-1080)ACT>AGT		CUG triplet repeat, RNA-binding protein 1							86.0	84.0	85.0					11																	47496998		2201	4298	6499	SO:0001583	missense	10658				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr11:47496998G>C	U63289	CCDS7938.1, CCDS7939.1, CCDS31482.1, CCDS53622.1, CCDS53623.1	11p11	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	2549	protein-coding gene	gene with protein product	"""CUG RNA-binding protein"", ""nuclear polyadenylated RNA-binding protein, 50-kD"", ""bruno-like 2"", ""embryo deadenylation element binding protein"""	601074	"""CUG triplet repeat, RNA-binding protein 1"", ""CUG triplet repeat, RNA binding protein 1"""	CUGBP1		8948631, 9371827	Standard	NM_006560		Approved	CUG-BP, hNab50, BRUNOL2, NAB50, CUGBP, NAPOR, EDEN-BP	uc001nfl.3	Q92879		ENST00000358597.3:c.1079C>G	11.37:g.47496998G>C	ENSP00000351409:p.Thr360Ser					CELF1_uc001nfm.2_Missense_Mutation_p.T357S|CELF1_uc001nfn.2_Missense_Mutation_p.T356S|CELF1_uc001nfo.1_Missense_Mutation_p.T386S|CELF1_uc010rhm.1_Missense_Mutation_p.T359S|CELF1_uc001nfp.2_Missense_Mutation_p.T388S|CELF1_uc001nfq.1_Missense_Mutation_p.T360S|CELF1_uc001nfr.1_Missense_Mutation_p.T360S	p.T360S	NM_001025596	NP_001020767	Q92879	CELF1_HUMAN			10	1089	-			360					B4E2U5|D3DQS0|F8W940|Q4LE52|Q9NP83|Q9NR06	Missense_Mutation	SNP	ENST00000358597.3	37	c.1079C>G	CCDS31482.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101039	0.56183	.	.	ENSG00000149187	ENST00000395290;ENST00000358597;ENST00000395292;ENST00000310513;ENST00000361904;ENST00000531165;ENST00000532048	T;T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.4	5.4	0.78164	.	0.218057	0.47093	D	0.000246	T	0.53190	0.1781	L	0.45581	1.43	0.44595	D	0.997562	B;B;B;B;B;B	0.20052	0.0;0.0;0.041;0.041;0.0;0.024	B;B;B;B;B;B	0.27262	0.001;0.001;0.078;0.078;0.001;0.035	T	0.47497	-0.9113	10	0.05620	T	0.96	-13.5423	14.753	0.69543	0.0:0.1443:0.8557:0.0	.	359;388;386;356;357;360	F8W940;G5EA30;Q92879-4;Q92879-2;Q92879-3;Q92879	.;.;.;.;.;CELF1_HUMAN	S	359;360;357;356;357;388;386	ENSP00000378705:T359S;ENSP00000351409:T360S;ENSP00000378706:T357S;ENSP00000308386:T356S;ENSP00000354639:T357S;ENSP00000436864:T388S;ENSP00000435926:T386S	ENSP00000308386:T356S	T	-	2	0	CELF1	47453574	1.000000	0.71417	0.986000	0.45419	0.992000	0.81027	3.265000	0.51561	2.537000	0.85549	0.557000	0.71058	ACT		PASS	0.552	CELF1-024	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398352.1	NM_006560		27	110	27	110	---	---	---	---
OR5L2	26338	broad.mit.edu	37	11	55595083	55595083	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr11:55595083T>C	ENST00000378397.1	+	1	389	c.389T>C	c.(388-390)cTg>cCg	p.L130P		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L130P(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TGTAACCCCCTGCTGTACATG	0.527										HNSCC(27;0.073)																												uc001nhy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(388-390)CTG>CCG		olfactory receptor, family 5, subfamily L,							204.0	179.0	187.0					11																	55595083		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55595083T>C	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.389T>C	11.37:g.55595083T>C	ENSP00000367650:p.Leu130Pro	HNSCC(27;0.073)					p.L130P	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	389	+		all_epithelial(135;0.208)	130			Cytoplasmic (Potential).		Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.389T>C	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	19.23	3.787273	0.70337	.	.	ENSG00000205030	ENST00000378397	T	0.01279	5.06	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39407	N	0.001371	T	0.15782	0.0380	H	0.97940	4.11	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	T	0.12142	-1.0559	10	0.87932	D	0	-18.6486	14.3026	0.66362	0.0:0.0:0.0:1.0	.	130	Q8NGL0	OR5L2_HUMAN	P	130	ENSP00000367650:L130P	ENSP00000367650:L130P	L	+	2	0	OR5L2	55351659	0.906000	0.30813	0.668000	0.29813	0.683000	0.39861	5.951000	0.70273	2.112000	0.64535	0.509000	0.49947	CTG		PASS	0.527	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		76	162	76	162	---	---	---	---
OR5D16	390144	broad.mit.edu	37	11	55606825	55606825	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr11:55606825C>T	ENST00000378396.1	+	1	598	c.598C>T	c.(598-600)Ctt>Ttt	p.L200F		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L200F(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CAGCCAGTTGCTTCTTTTCAC	0.388																																						uc010rio.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(598-600)CTT>TTT		olfactory receptor, family 5, subfamily D,							194.0	167.0	176.0					11																	55606825		2201	4296	6497	SO:0001583	missense	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606825C>T	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.598C>T	11.37:g.55606825C>T	ENSP00000367649:p.Leu200Phe						p.L200F	NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN			1	598	+		all_epithelial(135;0.208)	200			Helical; Name=5; (Potential).		Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	c.598C>T	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	17.10	3.303406	0.60195	.	.	ENSG00000205029	ENST00000378396	T	0.37235	1.21	4.47	2.56	0.30785	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.44159	0.1280	L	0.52364	1.645	0.09310	N	1	B	0.34313	0.448	P	0.53035	0.716	T	0.49244	-0.8960	9	0.59425	D	0.04	-9.0902	1.5623	0.02597	0.1699:0.4746:0.1649:0.1906	.	200	Q8NGK9	OR5DG_HUMAN	F	200	ENSP00000367649:L200F	ENSP00000367649:L200F	L	+	1	0	OR5D16	55363401	0.000000	0.05858	0.006000	0.13384	0.968000	0.65278	-1.623000	0.02040	1.057000	0.40506	0.530000	0.56133	CTT		PASS	0.388	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		41	72	41	72	---	---	---	---
OR5W2	390148	broad.mit.edu	37	11	55681359	55681359	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr11:55681359T>C	ENST00000344514.1	-	1	699	c.700A>G	c.(700-702)Agg>Ggg	p.R234G		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R234G(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GCTTTGAACCTCCCCTCAGCA	0.418																																					Melanoma(48;171 1190 15239 43886 49348)	uc010rir.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(700-702)AGG>GGG		olfactory receptor, family 5, subfamily W,							76.0	85.0	82.0					11																	55681359		2201	4296	6497	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681359T>C	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.700A>G	11.37:g.55681359T>C	ENSP00000342448:p.Arg234Gly						p.R234G	NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN			1	700	-			234			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000344514.1	37	c.700A>G	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	T	11.31	1.601571	0.28534	.	.	ENSG00000187612	ENST00000344514	T	0.00333	8.07	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000449	T	0.00666	0.0022	M	0.93016	3.37	0.25170	N	0.990283	B	0.23990	0.095	B	0.37451	0.25	T	0.06250	-1.0837	10	0.87932	D	0	.	12.6626	0.56822	0.0:0.0:0.0:1.0	.	234	Q8NH69	OR5W2_HUMAN	G	234	ENSP00000342448:R234G	ENSP00000342448:R234G	R	-	1	2	OR5W2	55437935	0.000000	0.05858	0.752000	0.31206	0.301000	0.27625	0.727000	0.25999	1.870000	0.54199	0.443000	0.29094	AGG		PASS	0.418	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		24	58	24	58	---	---	---	---
OR8H3	390152	broad.mit.edu	37	11	55890198	55890198	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr11:55890198C>T	ENST00000313472.3	+	1	350	c.350C>T	c.(349-351)tCa>tTa	p.S117L		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S117L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CTTCTCTCCTCAATGGCCTAT	0.473																																						uc001nii.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(349-351)TCA>TTA		olfactory receptor, family 8, subfamily H,							248.0	237.0	241.0					11																	55890198		2201	4296	6497	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890198C>T	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.350C>T	11.37:g.55890198C>T	ENSP00000323928:p.Ser117Leu						p.S117L	NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN			1	350	+	Esophageal squamous(21;0.00693)		117			Helical; Name=3; (Potential).		Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.350C>T	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	C	6.342	0.431127	0.12045	.	.	ENSG00000181761	ENST00000313472	T	0.02140	4.43	3.44	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	0.159469	0.30060	N	0.010504	T	0.01765	0.0056	N	0.17312	0.475	0.09310	N	1	B	0.26775	0.159	B	0.30105	0.111	T	0.48139	-0.9061	10	0.33141	T	0.24	.	7.6044	0.28093	0.0:0.8188:0.0:0.1812	.	117	Q8N146	OR8H3_HUMAN	L	117	ENSP00000323928:S117L	ENSP00000323928:S117L	S	+	2	0	OR8H3	55646774	0.009000	0.17119	0.264000	0.24511	0.564000	0.35744	1.495000	0.35627	1.621000	0.50320	0.173000	0.16961	TCA		PASS	0.473	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		133	243	133	243	---	---	---	---
OR5T3	390154	broad.mit.edu	37	11	56020497	56020497	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr11:56020497C>A	ENST00000303059.3	+	1	822	c.822C>A	c.(820-822)caC>caA	p.H274Q		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H274Q(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GTGGCTCTCACCTAACTGGAG	0.408																																						uc010rjd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(820-822)CAC>CAA		olfactory receptor, family 5, subfamily T,							202.0	181.0	188.0					11																	56020497		2201	4295	6496	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020497C>A	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.822C>A	11.37:g.56020497C>A	ENSP00000305403:p.His274Gln						p.H274Q	NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN			1	822	+	Esophageal squamous(21;0.00448)		274			Helical; Name=6; (Potential).		Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.822C>A	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.760823	0.31137	.	.	ENSG00000172489	ENST00000303059	T	0.00307	8.17	4.46	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000140	T	0.00906	0.0030	H	0.98256	4.185	0.30054	N	0.811483	D	0.54207	0.965	P	0.62382	0.901	T	0.04537	-1.0944	10	0.87932	D	0	.	8.4685	0.32971	0.0:0.6752:0.0:0.3248	.	274	Q8NGG3	OR5T3_HUMAN	Q	274	ENSP00000305403:H274Q	ENSP00000305403:H274Q	H	+	3	2	OR5T3	55777073	0.135000	0.22499	0.989000	0.46669	0.177000	0.22998	0.373000	0.20484	0.609000	0.30018	0.643000	0.83706	CAC		PASS	0.408	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		41	192	41	192	---	---	---	---
OR8H1	219469	broad.mit.edu	37	11	56058198	56058198	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr11:56058198A>T	ENST00000313022.2	-	1	368	c.341T>A	c.(340-342)cTc>cAc	p.L114H		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L114H(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					CATTGATGAGAGAAGAAAACA	0.458																																						uc010rje.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(340-342)CTC>CAC		olfactory receptor, family 8, subfamily H,							164.0	160.0	162.0					11																	56058198		2201	4296	6497	SO:0001583	missense	219469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56058198A>T	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.341T>A	11.37:g.56058198A>T	ENSP00000323595:p.Leu114His						p.L114H	NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN			1	341	-	Esophageal squamous(21;0.00448)		114			Helical; Name=3; (Potential).		B2RNI7|Q6IFC5	Missense_Mutation	SNP	ENST00000313022.2	37	c.341T>A	CCDS31526.1	.	.	.	.	.	.	.	.	.	.	A	14.06	2.421487	0.42918	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.02345	4.33	3.94	3.94	0.45596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44285	D	0.000474	T	0.27798	0.0684	H	0.98754	4.32	0.28259	N	0.92491	D	0.89917	1.0	D	0.87578	0.998	T	0.51803	-0.8659	10	0.87932	D	0	.	13.1903	0.59706	1.0:0.0:0.0:0.0	.	114	Q8NGG4	OR8H1_HUMAN	H	114;110	ENSP00000323595:L114H	ENSP00000323595:L114H	L	-	2	0	OR8H1	55814774	0.998000	0.40836	0.235000	0.24058	0.004000	0.04260	6.399000	0.73248	1.744000	0.51775	0.445000	0.29226	CTC		PASS	0.458	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199		37	185	37	185	---	---	---	---
OR5M8	219484	broad.mit.edu	37	11	56258324	56258324	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr11:56258324G>C	ENST00000327216.2	-	1	547	c.523C>G	c.(523-525)Cac>Gac	p.H175D		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H175D(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CAGTAGAAGTGATTAATTTCA	0.488																																						uc001nix.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(523-525)CAC>GAC		olfactory receptor, family 5, subfamily M,							92.0	92.0	92.0					11																	56258324		2201	4296	6497	SO:0001583	missense	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258324G>C	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.523C>G	11.37:g.56258324G>C	ENSP00000323354:p.His175Asp						p.H175D	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN			1	523	-	Esophageal squamous(21;0.00352)		175			Extracellular (Potential).		B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	c.523C>G	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.376591	0.42105	.	.	ENSG00000181371	ENST00000327216	T	0.00174	8.62	4.35	3.43	0.39272	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41938	D	0.000783	T	0.00580	0.0019	M	0.86343	2.81	0.28001	N	0.935278	D	0.89917	1.0	D	0.97110	1.0	T	0.15150	-1.0447	10	0.87932	D	0	-27.2393	10.422	0.44356	0.0983:0.0:0.9017:0.0	.	175	Q8NGP6	OR5M8_HUMAN	D	175	ENSP00000323354:H175D	ENSP00000323354:H175D	H	-	1	0	OR5M8	56014900	1.000000	0.71417	0.865000	0.33974	0.653000	0.38743	5.951000	0.70273	0.973000	0.38340	-0.162000	0.13425	CAC		PASS	0.488	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		41	75	41	75	---	---	---	---
OR5B3	441608	broad.mit.edu	37	11	58170159	58170159	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr11:58170159G>T	ENST00000309403.2	-	1	723	c.724C>A	c.(724-726)Cat>Aat	p.H242N		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H242N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCAATGAAATGAGAGGCACAG	0.433																																						uc010rkf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(724-726)CAT>AAT		olfactory receptor, family 5, subfamily B,							82.0	83.0	83.0					11																	58170159		2201	4295	6496	SO:0001583	missense	441608				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58170159G>T	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"""GPCR / Class A : Olfactory receptors"""	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.724C>A	11.37:g.58170159G>T	ENSP00000308270:p.His242Asn						p.H242N	NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN			1	724	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	242			Helical; Name=6; (Potential).		Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	37	c.724C>A	CCDS31549.1	.	.	.	.	.	.	.	.	.	.	g	14.24	2.477778	0.44044	.	.	ENSG00000172769	ENST00000309403	T	0.00314	8.14	4.05	4.05	0.47172	GPCR, rhodopsin-like superfamily (1);	0.129092	0.35555	N	0.003125	T	0.01353	0.0044	H	0.98446	4.235	0.42178	D	0.991676	D	0.89917	1.0	D	0.87578	0.998	T	0.23547	-1.0185	10	0.87932	D	0	-47.742	15.2879	0.73843	0.0:0.0:1.0:0.0	.	242	Q8NH48	OR5B3_HUMAN	N	242	ENSP00000308270:H242N	ENSP00000308270:H242N	H	-	1	0	OR5B3	57926735	1.000000	0.71417	0.207000	0.23584	0.038000	0.13279	7.540000	0.82074	2.264000	0.75181	0.650000	0.86243	CAT		PASS	0.433	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		27	42	27	42	---	---	---	---
NRXN2	9379	broad.mit.edu	37	11	64453274	64453274	+	Missense_Mutation	SNP	C	C	G	rs557918659		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr11:64453274C>G	ENST00000377551.1	-	5	1207	c.996G>C	c.(994-996)aaG>aaC	p.K332N	NRXN2_ENST00000409571.1_Missense_Mutation_p.K332N|NRXN2_ENST00000265459.6_Missense_Mutation_p.K332N|NRXN2_ENST00000377559.3_Missense_Mutation_p.K308N			Q9P2S2	NRX2A_HUMAN	neurexin 2	332	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.K332N(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						AGTCGGCCGACTTGCCTGTAT	0.592																																						uc001oar.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						c.(994-996)AAG>AAC		neurexin 2 isoform alpha-1 precursor							303.0	251.0	269.0					11																	64453274		2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane		g.chr11:64453274C>G		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.996G>C	11.37:g.64453274C>G	ENSP00000366774:p.Lys332Asn					NRXN2_uc001oas.2_Missense_Mutation_p.K308N|NRXN2_uc001oaq.2_Missense_Mutation_p.K6N	p.K332N	NM_015080	NP_055895	P58401	NRX2B_HUMAN			7	1435	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.996G>C	CCDS8077.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	17.63|17.63|17.63	3.437973|3.437973|3.437973	0.62955|0.62955|0.62955	.|.|.	.|.|.	ENSG00000110076|ENSG00000110076|ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571;ENST00000442300|ENST00000417749|ENST00000437746	T;T;T;T;T|.|.	0.78246|.|.	-1.06;-1.16;-1.06;-1.06;-1.06|.|.	4.0|4.0|4.0	4.0|4.0|4.0	0.46444|0.46444|0.46444	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);|.|.	0.000000|.|.	0.44483|.|.	U|.|.	0.000454|.|.	T|T|T	0.56262|0.56262|0.56262	0.1973|0.1973|0.1973	L|L|L	0.36672|0.36672|0.36672	1.1|1.1|1.1	0.41435|0.41435|0.41435	D|D|D	0.987885|0.987885|0.987885	D;P;P|.|.	0.76494|.|.	0.999;0.591;0.883|.|.	D;B;P|.|.	0.66497|.|.	0.944;0.134;0.771|.|.	T|T|T	0.54248|0.54248|0.54248	-0.8322|-0.8322|-0.8322	10|5|5	0.48119|.|.	T|.|.	0.1|.|.	.|.|.	13.9838|13.9838|13.9838	0.64321|0.64321|0.64321	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	308;332;85|.|.	Q9P2S2-2;Q9P2S2;E7EV67|.|.	.;NRX2A_HUMAN;.|.|.	N|T|L	332;308;332;308;332;103|93|122	ENSP00000366774:K332N;ENSP00000366782:K308N;ENSP00000265459:K332N;ENSP00000386416:K332N;ENSP00000388971:K103N|.|.	ENSP00000265459:K332N|.|.	K|S|V	-|-|-	3|2|1	2|0|0	NRXN2|NRXN2|NRXN2	64209850|64209850|64209850	0.981000|0.981000|0.981000	0.34729|0.34729|0.34729	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.926000|0.926000|0.926000	0.56050|0.56050|0.56050	0.299000|0.299000|0.299000	0.19138|0.19138|0.19138	1.951000|1.951000|1.951000	0.56629|0.56629|0.56629	0.467000|0.467000|0.467000	0.42956|0.42956|0.42956	AAG|AGT|GTC		PASS	0.592	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		38	98	38	98	---	---	---	---
PDE2A	5138	broad.mit.edu	37	11	72290644	72290644	+	Silent	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr11:72290644G>A	ENST00000334456.5	-	26	2435	c.2190C>T	c.(2188-2190)caC>caT	p.H730H	PDE2A_ENST00000418754.2_Silent_p.H615H|PDE2A_ENST00000376450.3_Silent_p.H474H|PDE2A_ENST00000544570.1_Silent_p.H723H|PDE2A_ENST00000444035.2_Silent_p.H721H|PDE2A_ENST00000540345.1_Silent_p.H721H	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	730	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)	p.H730H(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	CCTGAGCAAAGTGGTGCCTCT	0.622																																						uc010rrc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(2188-2190)CAC>CAT		phosphodiesterase 2A isoform 1	Sildenafil(DB00203)|Sulindac(DB00605)						43.0	47.0	46.0					11																	72290644		2200	4293	6493	SO:0001819	synonymous_variant	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72290644G>A	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.2190C>T	11.37:g.72290644G>A						PDE2A_uc001oso.2_Silent_p.H709H|PDE2A_uc010rra.1_Silent_p.H723H|PDE2A_uc001osn.2_Silent_p.H474H|PDE2A_uc010rrb.1_Silent_p.H721H|PDE2A_uc010rrd.1_Silent_p.H615H	p.H730H	NM_002599	NP_002590	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		26	2433	-			730			Catalytic (By similarity).		B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Silent	SNP	ENST00000334456.5	37	c.2190C>T	CCDS8216.1																																																																																				PASS	0.622	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		6	11	6	11	---	---	---	---
C2CD3	26005	broad.mit.edu	37	11	73789655	73789655	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr11:73789655T>C	ENST00000334126.7	-	23	4334	c.4108A>G	c.(4108-4110)Acg>Gcg	p.T1370A	C2CD3_ENST00000313663.7_Missense_Mutation_p.T1370A			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1370					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)		p.T1370A(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CCACGATGCGTGAAGGAAATC	0.507																																						uc001ouu.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(2)|skin(1)	7						c.(4108-4110)ACG>GCG		C2 calcium-dependent domain containing 3							98.0	90.0	92.0					11																	73789655		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73789655T>C	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.4108A>G	11.37:g.73789655T>C	ENSP00000334379:p.Thr1370Ala					C2CD3_uc001out.2_RNA	p.T1370A	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN			23	4335	-	Breast(11;4.16e-06)		1370					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.4108A>G		.	.	.	.	.	.	.	.	.	.	T	6.287	0.421008	0.11928	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000414160	T;T;T	0.11930	3.18;3.16;2.73	5.48	1.5	0.22942	.	0.214766	0.47455	N	0.000228	T	0.04227	0.0117	N	0.05124	-0.11	0.28055	N	0.933204	B	0.11235	0.004	B	0.11329	0.006	T	0.36768	-0.9734	10	0.09338	T	0.73	-6.1789	2.4636	0.04547	0.2142:0.3478:0.0:0.438	.	1370	Q4AC94-1	.	A	1370;1370;178	ENSP00000334379:T1370A;ENSP00000323339:T1370A;ENSP00000388750:T178A	ENSP00000323339:T1370A	T	-	1	0	C2CD3	73467303	1.000000	0.71417	0.975000	0.42487	0.790000	0.44656	2.207000	0.42788	0.864000	0.35578	0.533000	0.62120	ACG		PASS	0.507	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		23	91	23	91	---	---	---	---
GRM5	2915	broad.mit.edu	37	11	88780906	88780906	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr11:88780906G>T	ENST00000305447.4	-	1	284	c.135C>A	c.(133-135)caC>caA	p.H45Q	GRM5_ENST00000305432.5_Missense_Mutation_p.H45Q|GRM5_ENST00000393297.1_Missense_Mutation_p.H45Q|GRM5_ENST00000455756.2_Missense_Mutation_p.H45Q|GRM5_ENST00000418177.2_Missense_Mutation_p.H45Q|GRM5_ENST00000393294.3_Missense_Mutation_p.H45Q	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	45					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.H45Q(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CAGTAGGCTGGTGATGAACAG	0.527																																						uc001pcq.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(133-135)CAC>CAA		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)						68.0	62.0	64.0					11																	88780906		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88780906G>T	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.135C>A	11.37:g.88780906G>T	ENSP00000306138:p.His45Gln					GRM5_uc009yvm.2_Missense_Mutation_p.H45Q|GRM5_uc009yvn.1_Missense_Mutation_p.H45Q	p.H45Q	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			1	335	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	45			Extracellular (Potential).		Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.135C>A	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.414866	0.42817	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297;ENST00000393294	D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	5.93	4.08	0.47627	.	0.000000	0.85682	D	0.000000	D	0.87378	0.6162	L	0.39397	1.21	0.45318	D	0.998316	B;D;D	0.89917	0.185;0.995;1.0	B;D;D	0.74348	0.021;0.925;0.983	D	0.85048	0.0927	9	.	.	.	.	11.2319	0.48918	0.1888:0.0:0.8112:0.0	.	45;45;45	A8MT20;P41594-2;P41594	.;.;GRM5_HUMAN	Q	45	ENSP00000402912:H45Q;ENSP00000405690:H45Q;ENSP00000305905:H45Q;ENSP00000306138:H45Q;ENSP00000376975:H45Q;ENSP00000376972:H45Q	.	H	-	3	2	GRM5	88420554	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.103000	0.41806	0.851000	0.35264	0.563000	0.77884	CAC		PASS	0.527	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		11	48	11	48	---	---	---	---
CNTN5	53942	broad.mit.edu	37	11	100211382	100211382	+	Splice_Site	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr11:100211382G>A	ENST00000524871.1	+	22	3207		c.e22+1		CNTN5_ENST00000279463.3_Splice_Site|CNTN5_ENST00000524560.1_Splice_Site|CNTN5_ENST00000528682.1_Splice_Site|CNTN5_ENST00000418526.2_Splice_Site	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5						cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.?(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AAGAAATCCCGTAAGTGACCT	0.443																																						uc001pga.2																			2	Unknown(2)		lung(2)	skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.e22+1		contactin 5 isoform long							57.0	55.0	56.0					11																	100211382		1889	4109	5998	SO:0001630	splice_region_variant	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:100211382G>A	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2917+1G>A	11.37:g.100211382G>A						CNTN5_uc001pgb.2_Splice_Site_p.P899_splice|CNTN5_uc010ruk.1_Splice_Site_p.P244_splice	p.P973_splice	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	22	3256	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)						A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Splice_Site	SNP	ENST00000524871.1	37	c.2917_splice	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215833	0.79352	.	.	ENSG00000149972	ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5444	0.87857	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNTN5	99716592	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.724000	0.91462	2.377000	0.81083	0.655000	0.94253	.		PASS	0.443	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361	Intron	14	19	14	19	---	---	---	---
PGR	5241	broad.mit.edu	37	11	100909920	100909920	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr11:100909920G>A	ENST00000325455.5	-	8	4182	c.2729C>T	c.(2728-2730)tCt>tTt	p.S910F	PGR_ENST00000534013.1_Missense_Mutation_p.S316F|PGR_ENST00000263463.5_Missense_Mutation_p.S808F	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	910	Steroid-binding.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.S910F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	AATAACTTCAGACATCATTTC	0.368																																					Pancreas(124;2271 2354 21954 22882)	uc001pgh.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4						c.(2728-2730)TCT>TTT		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						103.0	101.0	102.0					11																	100909920		2203	4300	6503	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100909920G>A	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2729C>T	11.37:g.100909920G>A	ENSP00000325120:p.Ser910Phe					PGR_uc001pgg.2_Missense_Mutation_p.S291F|PGR_uc001pgi.2_Missense_Mutation_p.S808F|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA	p.S910F	NM_000926	NP_000917	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	8	3472	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	910			Steroid-binding.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.2729C>T	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582389	0.86748	.	.	ENSG00000082175	ENST00000325455;ENST00000534013;ENST00000263463	T;T;D	0.99764	1.3;1.3;-6.68	5.74	5.74	0.90152	Nuclear hormone receptor, ligand-binding (2);	0.209786	0.42682	D	0.000673	D	0.99775	0.9907	M	0.82630	2.6	0.49582	D	0.999804	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.74023	0.964;0.982;0.968	D	0.97619	1.0134	10	0.72032	D	0.01	.	19.9283	0.97112	0.0:0.0:1.0:0.0	.	808;910;291	Q8TDS3;P06401;A7LQ08	.;PRGR_HUMAN;.	F	910;316;808	ENSP00000325120:S910F;ENSP00000436561:S316F;ENSP00000263463:S808F	ENSP00000263463:S808F	S	-	2	0	PGR	100415130	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.281000	0.95811	2.708000	0.92522	0.585000	0.79938	TCT		PASS	0.368	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			10	81	10	81	---	---	---	---
SIDT2	51092	broad.mit.edu	37	11	117050006	117050006	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr11:117050006G>C	ENST00000324225.4	+	1	558	c.27G>C	c.(25-27)ttG>ttC	p.L9F	SIDT2_ENST00000431081.2_Missense_Mutation_p.L9F	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	9					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)	p.L9F(1)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TGCCCTTCTTGGTGCTCTTGG	0.682																																						uc001pqh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(25-27)TTG>TTC		SID1 transmembrane family, member 2 precursor							72.0	65.0	67.0					11																	117050006		2201	4296	6497	SO:0001583	missense	51092					integral to membrane|lysosomal membrane		g.chr11:117050006G>C	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.27G>C	11.37:g.117050006G>C	ENSP00000314023:p.Leu9Phe					SIDT2_uc010rxe.1_Missense_Mutation_p.L9F|SIDT2_uc001pqg.2_Missense_Mutation_p.L9F|SIDT2_uc001pqi.1_Missense_Mutation_p.L9F	p.L9F	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	1	68	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	9					Q8NBY7|Q9Y357	Missense_Mutation	SNP	ENST00000324225.4	37	c.27G>C	CCDS31682.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693180	0.30052	.	.	ENSG00000149577	ENST00000324225;ENST00000532960;ENST00000525347;ENST00000278951;ENST00000431081;ENST00000392956	T;T;T;T	0.51325	2.08;0.71;2.03;2.09	4.19	3.25	0.37280	.	1.261320	0.05833	N	0.617959	T	0.38692	0.1050	L	0.33485	1.01	0.23036	N	0.998392	B;B;B;B	0.30068	0.069;0.009;0.267;0.041	B;B;B;B	0.24541	0.046;0.008;0.054;0.023	T	0.33137	-0.9880	10	0.56958	D	0.05	-1.7701	9.4823	0.38908	0.0:0.2282:0.7718:0.0	.	9;9;9;9	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	F	9	ENSP00000314023:L9F;ENSP00000431176:L9F;ENSP00000278951:L9F;ENSP00000399635:L9F	ENSP00000278951:L9F	L	+	3	2	SIDT2	116555216	0.992000	0.36948	0.080000	0.20451	0.455000	0.32408	1.923000	0.40055	0.916000	0.36871	0.561000	0.74099	TTG		PASS	0.682	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996		6	95	6	95	---	---	---	---
AMICA1	120425	broad.mit.edu	37	11	118074380	118074380	+	Splice_Site	SNP	C	C	A	rs368408780		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr11:118074380C>A	ENST00000356289.5	-	6	708	c.535G>T	c.(535-537)Gag>Tag	p.E179*	AMICA1_ENST00000533261.1_Splice_Site_p.E168*|AMICA1_ENST00000292067.7_Splice_Site_p.E169*|AMICA1_ENST00000526620.1_Splice_Site_p.E140*	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	179	Ig-like V-type 2.				blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)	p.E169*(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ACAATCTCCTCCTAGAAGTGA	0.512																																						uc001psk.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(535-537)GAG>TAG		adhesion molecule, interacts with CXADR antigen							67.0	68.0	68.0					11																	118074380		2200	4296	6496	SO:0001630	splice_region_variant	120425				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane		g.chr11:118074380C>A	AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"""Immunoglobulin superfamily / V-set domain containing"""	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.535-1G>T	11.37:g.118074380C>A						AMICA1_uc001psg.2_5'UTR|AMICA1_uc001psh.2_Nonsense_Mutation_p.E140*|AMICA1_uc009yzw.1_RNA|AMICA1_uc001psi.2_Nonsense_Mutation_p.E169*|AMICA1_uc001psj.2_Nonsense_Mutation_p.E168*|AMICA1_uc010rxw.1_Nonsense_Mutation_p.E140*|AMICA1_uc010rxx.1_Nonsense_Mutation_p.E179*|AMICA1_uc001psl.1_Nonsense_Mutation_p.E135*	p.E179*	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	6	709	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	179			Ig-like V-type 2.|Extracellular (Potential).		B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Nonsense_Mutation	SNP	ENST00000356289.5	37	c.535G>T	CCDS41723.1	.	.	.	.	.	.	.	.	.	.	C	39	7.330238	0.98217	.	.	ENSG00000160593	ENST00000356289;ENST00000292067;ENST00000533261;ENST00000526620;ENST00000537867	.	.	.	4.58	3.63	0.41609	.	0.166114	0.28718	N	0.014368	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-12.9574	7.1219	0.25450	0.0:0.8585:0.0:0.1415	.	.	.	.	X	179;169;168;140;140	.	ENSP00000292067:E169X	E	-	1	0	AMICA1	117579590	1.000000	0.71417	0.996000	0.52242	0.181000	0.23173	2.092000	0.41700	0.933000	0.37291	0.491000	0.48974	GAG		PASS	0.512	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392105.2	NM_153206	Nonsense_Mutation	32	76	32	76	---	---	---	---
ATP5L	10632	broad.mit.edu	37	11	118272382	118272382	+	Start_Codon_SNP	SNP	T	T	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr11:118272382T>C	ENST00000300688.3	+	1	514	c.2T>C	c.(1-3)aTg>aCg	p.M1T	ATP5L_ENST00000524422.1_Start_Codon_SNP_p.M1T|ATP5L_ENST00000529770.1_3'UTR|RP11-770J1.5_ENST00000531742.1_5'Flank|RP11-770J1.5_ENST00000534438.1_Start_Codon_SNP_p.M1V	NM_006476.4	NP_006467.4	O75964	ATP5L_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G	1					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)	p.M1T(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)		TCCAGAACCATGGCCCAATTT	0.672																																						uc001psx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1-3)ATG>ACG		ATP synthase, H+ transporting, mitochondrial F0							46.0	41.0	43.0					11																	118272382		2200	4296	6496	SO:0001582	initiator_codon_variant	10632				ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|protein binding	g.chr11:118272382T>C	AF092124	CCDS8397.1	11q23.3	2012-10-12	2010-06-11		ENSG00000167283	ENSG00000167283		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	14247	protein-coding gene	gene with protein product			"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit g"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G"""			11230166, 11042152	Standard	NR_033759		Approved	ATP5JG	uc001psx.3	O75964		ENST00000300688.3:c.2T>C	11.37:g.118272382T>C	ENSP00000300688:p.Met1Thr						p.M1T	NM_006476	NP_006467	O75964	ATP5L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)	1	279	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	1					A8K0K3|Q96BV6|Q9UBZ7	Missense_Mutation	SNP	ENST00000300688.3	37	c.2T>C	CCDS8397.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.0|21.0	4.085712|4.085712	0.76642|0.76642	.|.	.|.	ENSG00000167283|ENSG00000254873	ENST00000300688;ENST00000524422|ENST00000534438	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.072937|0.072937	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.73760|0.73760	0.3628|0.3628	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	P|.	0.45594|.	0.862|.	P|.	0.44477|.	0.451|.	T|T	0.76719|0.76719	-0.2856|-0.2856	8|6	0.87932|0.87932	D|D	0|0	-1.1622|-1.1622	13.214|13.214	0.59844|0.59844	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1|.	O75964|.	ATP5L_HUMAN|.	T|V	1|1	.|.	ENSP00000300688:M1T|ENSP00000433775:M1V	M|M	+|-	2|1	0|0	ATP5L|RP11-770J1.5	117777592|117777592	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.632000|0.632000	0.37999|0.37999	4.148000|4.148000	0.58085|0.58085	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	ATG|ATG		PASS	0.672	ATP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389220.1	NM_006476	Missense_Mutation	9	35	9	35	---	---	---	---
CRTAM	56253	broad.mit.edu	37	11	122720898	122720898	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr11:122720898A>G	ENST00000227348.4	+	2	216	c.169A>G	c.(169-171)Acc>Gcc	p.T57A		NM_019604.2	NP_062550.2			cytotoxic and regulatory T cell molecule									p.T57A(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CTCAGGGTTCACCATTTTTTT	0.483																																						uc001pyj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(169-171)ACC>GCC		class-I MHC-restricted T cell associated							62.0	67.0	65.0					11																	122720898		2202	4299	6501	SO:0001583	missense	56253				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding	g.chr11:122720898A>G	AF001622	CCDS8437.1	11q24.1	2013-01-11			ENSG00000109943	ENSG00000109943		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24313	protein-coding gene	gene with protein product	"""class I MHC restricted T cell associated molecule"""	612597				10811014, 16300832	Standard	NM_019604		Approved	CD355	uc001pyj.3	O95727	OTTHUMG00000166026	ENST00000227348.4:c.169A>G	11.37:g.122720898A>G	ENSP00000227348:p.Thr57Ala						p.T57A	NM_019604	NP_062550	O95727	CRTAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)	2	169	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	57			Ig-like V-type.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000227348.4	37	c.169A>G	CCDS8437.1	.	.	.	.	.	.	.	.	.	.	A	15.24	2.774530	0.49786	.	.	ENSG00000109943	ENST00000227348	T	0.64803	-0.12	5.29	5.29	0.74685	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.065153	0.64402	D	0.000009	T	0.75517	0.3860	M	0.81614	2.55	0.80722	D	1	D	0.55385	0.971	D	0.64237	0.923	T	0.78234	-0.2283	10	0.66056	D	0.02	.	7.8755	0.29590	0.9079:0.0:0.0921:0.0	.	57	O95727	CRTAM_HUMAN	A	57	ENSP00000227348:T57A	ENSP00000227348:T57A	T	+	1	0	CRTAM	122226108	1.000000	0.71417	0.983000	0.44433	0.334000	0.28698	1.560000	0.36331	1.990000	0.58119	0.528000	0.53228	ACC		PASS	0.483	CRTAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387507.1	NM_019604		17	71	17	71	---	---	---	---
GNB3	2784	broad.mit.edu	37	12	6954923	6954923	+	Silent	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr12:6954923C>T	ENST00000229264.3	+	10	1278	c.873C>T	c.(871-873)gaC>gaT	p.D291D	CDCA3_ENST00000422785.3_3'UTR|GNB3_ENST00000435982.2_Silent_p.D290D|CDCA3_ENST00000604599.1_5'UTR	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	291					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)	p.D291D(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						GCTACGACGACTTCAACTGCA	0.607																																						uc001qrd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(871-873)GAC>GAT		guanine nucleotide-binding protein, beta-3							158.0	152.0	154.0					12																	6954923		2203	4300	6503	SO:0001819	synonymous_variant	2784				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr12:6954923C>T		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.873C>T	12.37:g.6954923C>T						GNB3_uc001qrc.2_Silent_p.D247D|GNB3_uc009zfe.2_Silent_p.D290D|CDCA3_uc001qre.2_3'UTR|uc001qrf.1_RNA	p.D291D	NM_002075	NP_002066	P16520	GBB3_HUMAN			10	1278	+			291			WD 6.		Q96B71|Q9BQC0	Silent	SNP	ENST00000229264.3	37	c.873C>T	CCDS8564.1																																																																																				PASS	0.607	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075		96	188	96	188	---	---	---	---
CLEC4A	50856	broad.mit.edu	37	12	8281903	8281903	+	Silent	SNP	A	A	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr12:8281903A>G	ENST00000229332.5	+	3	490	c.243A>G	c.(241-243)acA>acG	p.T81T	CLEC4A_ENST00000345999.3_Intron|CLEC4A_ENST00000352620.3_Intron|CLEC4A_ENST00000360500.3_Silent_p.T42T	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	81					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.T81T(1)		cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		AAAAGACTACAAAAGAGCTGG	0.328																																						uc001qtz.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(241-243)ACA>ACG		C-type lectin domain family 4, member A isoform							60.0	67.0	65.0					12																	8281903		2203	4299	6502	SO:0001819	synonymous_variant	50856				cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:8281903A>G	AJ133532	CCDS8590.1, CCDS8591.1, CCDS8592.1, CCDS41745.1	12p13	2005-02-09	2005-02-09	2005-02-09	ENSG00000111729	ENSG00000111729		"""C-type lectin domain containing"""	13257	protein-coding gene	gene with protein product		605306	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 6"""	CLECSF6		10438934	Standard	NM_016184		Approved	DCIR, DDB27	uc001qtz.1	Q9UMR7	OTTHUMG00000168571	ENST00000229332.5:c.243A>G	12.37:g.8281903A>G						CLEC4A_uc009zga.1_Silent_p.T42T|CLEC4A_uc001qub.1_Intron|CLEC4A_uc001quc.1_Intron|CLEC4A_uc009zgb.1_Intron	p.T81T	NM_016184	NP_057268	Q9UMR7	CLC4A_HUMAN		Kidney(36;0.0915)	3	490	+			81			Extracellular (Potential).		Q17R69|Q8WXW9|Q9H2Z9|Q9NS33|Q9UI34	Silent	SNP	ENST00000229332.5	37	c.243A>G	CCDS8590.1																																																																																				PASS	0.328	CLEC4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400257.1	NM_194450		20	62	20	62	---	---	---	---
PZP	5858	broad.mit.edu	37	12	9313702	9313702	+	Silent	SNP	C	C	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr12:9313702C>G	ENST00000261336.2	-	23	2827	c.2799G>C	c.(2797-2799)gtG>gtC	p.V933V	PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Silent_p.V719V	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	933					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V719V(1)|p.V933V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ACTGCTCAGACACATTAGCAC	0.408																																					Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(2797-2799)GTG>GTC		pregnancy-zone protein precursor							98.0	93.0	94.0					12																	9313702		2203	4300	6503	SO:0001819	synonymous_variant	5858							g.chr12:9313702C>G	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.2799G>C	12.37:g.9313702C>G						PZP_uc009zgl.2_Silent_p.V719V|PZP_uc010sgo.1_RNA|PZP_uc009zgm.1_Missense_Mutation_p.C165S	p.V933V	NM_002864	NP_002855					23	2828	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	37	c.2799G>C	CCDS8600.1																																																																																				PASS	0.408	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		27	95	27	95	---	---	---	---
PZP	5858	broad.mit.edu	37	12	9313712	9313712	+	Splice_Site	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr12:9313712C>A	ENST00000261336.2	-	23	2817	c.2789G>T	c.(2788-2790)gGt>gTt	p.G930V	PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Splice_Site_p.G716V	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	930					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.G930V(1)|p.G716V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CACATTAGCACCTTTAGAAAC	0.423																																					Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(2788-2790)GGT>GTT		pregnancy-zone protein precursor							94.0	89.0	91.0					12																	9313712		2203	4300	6503	SO:0001630	splice_region_variant	5858							g.chr12:9313712C>A	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.2789-1G>T	12.37:g.9313712C>A						PZP_uc009zgl.2_Missense_Mutation_p.G716V|PZP_uc010sgo.1_RNA|PZP_uc009zgm.1_Missense_Mutation_p.V162L	p.G930V	NM_002864	NP_002855					23	2818	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.2789G>T	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.540959	0.45280	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.37235	2.21;1.21	3.8	0.914	0.19360	.	0.126826	0.33272	U	0.005082	T	0.53867	0.1823	M	0.87971	2.92	0.44816	D	0.99782	D;D	0.64830	0.994;0.978	P;P	0.58266	0.809;0.836	T	0.56733	-0.7930	10	0.59425	D	0.04	.	8.3083	0.32055	0.0:0.7192:0.0:0.2808	.	716;930	P20742-2;P20742	.;PZP_HUMAN	V	930;716	ENSP00000261336:G930V;ENSP00000371427:G716V	ENSP00000261336:G930V	G	-	2	0	PZP	9204979	0.004000	0.15560	0.228000	0.23943	0.050000	0.14768	-0.121000	0.10643	0.358000	0.24211	0.563000	0.77884	GGT		PASS	0.423	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864	Missense_Mutation	25	93	25	93	---	---	---	---
SLCO1B7	338821	broad.mit.edu	37	12	21196447	21196447	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr12:21196447G>A	ENST00000421593.2	+	6	766	c.766G>A	c.(766-768)Gat>Aat	p.D256N	SLCO1B7_ENST00000554957.1_Missense_Mutation_p.D303N|LST3_ENST00000381541.3_Missense_Mutation_p.D303N|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.D256N(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AAAAACTAATGATAAAAGGAA	0.294																																						uc010sin.1																			1	Substitution - Missense(1)		lung(1)		0						c.(766-768)GAT>AAT		liver-specific organic anion transporter 3TM12							59.0	60.0	60.0					12																	21196447		2172	4284	6456	SO:0001583	missense	338821					membrane	transporter activity	g.chr12:21196447G>A	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.766G>A	12.37:g.21196447G>A	ENSP00000394168:p.Asp256Asn					SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Missense_Mutation_p.D303N	p.D256N	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN			6	766	+			256					Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	c.766G>A	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	9.574	1.121682	0.20877	.	.	ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000381541;ENST00000554957;ENST00000421593	T;T;T	0.40476	1.03;1.03;1.03	3.17	2.2	0.27929	.	1.542100	0.03636	N	0.238624	T	0.42494	0.1205	L	0.48362	1.52	0.09310	N	1	B;B	0.32939	0.391;0.024	B;B	0.40134	0.32;0.022	T	0.32375	-0.9909	10	0.33940	T	0.23	.	5.67	0.17717	0.1739:0.0:0.8261:0.0	.	256;303	G3V0H7;F5H094	.;.	N	303;303;256	ENSP00000370952:D303N;ENSP00000452013:D303N;ENSP00000394168:D256N	ENSP00000370952:D303N	D	+	1	0	SLCO1B7;RP11-545J16.1	21087714	0.083000	0.21467	0.012000	0.15200	0.017000	0.09413	0.936000	0.28938	0.611000	0.30052	0.305000	0.20034	GAT		PASS	0.294	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		6	63	6	63	---	---	---	---
CAPRIN2	65981	broad.mit.edu	37	12	30868013	30868013	+	Nonsense_Mutation	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr12:30868013G>A	ENST00000395805.2	-	14	2909	c.2362C>T	c.(2362-2364)Cag>Tag	p.Q788*	CAPRIN2_ENST00000298892.5_Nonsense_Mutation_p.Q794*|CAPRIN2_ENST00000251071.5_Nonsense_Mutation_p.Q844*|CAPRIN2_ENST00000308433.5_Nonsense_Mutation_p.Q510*|CAPRIN2_ENST00000417045.1_Nonsense_Mutation_p.Q843*	NM_001206856.1	NP_001193785.1			caprin family member 2									p.Q844*(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ACATTCGTCTGTGCTGGGTAA	0.423																																						uc001rji.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2530-2532)CAG>TAG		C1q domain containing 1 isoform 1							157.0	147.0	150.0					12																	30868013		2203	4300	6503	SO:0001587	stop_gained	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30868013G>A	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.2362C>T	12.37:g.30868013G>A	ENSP00000379150:p.Gln788*					CAPRIN2_uc001rjf.1_Nonsense_Mutation_p.Q640*|CAPRIN2_uc001rjg.1_Nonsense_Mutation_p.Q511*|CAPRIN2_uc001rjh.1_Nonsense_Mutation_p.Q794*|CAPRIN2_uc001rjj.1_Nonsense_Mutation_p.Q510*|CAPRIN2_uc001rjk.3_Nonsense_Mutation_p.Q843*|CAPRIN2_uc001rjl.3_Nonsense_Mutation_p.Q788*|CAPRIN2_uc001rjm.1_3'UTR	p.Q844*	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN			15	3281	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		844						Nonsense_Mutation	SNP	ENST00000395805.2	37	c.2530C>T	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	G	37	6.604821	0.97701	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000395805;ENST00000251071;ENST00000308433;ENST00000417045	.	.	.	5.54	5.54	0.83059	.	0.536026	0.20424	N	0.092620	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-2.8182	14.3474	0.66675	0.0:0.0:0.852:0.148	.	.	.	.	X	589;794;788;844;510;843	.	ENSP00000251071:Q844X	Q	-	1	0	CAPRIN2	30759280	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.386000	0.66238	2.601000	0.87937	0.655000	0.94253	CAG		PASS	0.423	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		60	123	60	123	---	---	---	---
KIAA1551	55196	broad.mit.edu	37	12	32134684	32134684	+	Silent	SNP	A	A	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr12:32134684A>G	ENST00000312561.4	+	4	1209	c.795A>G	c.(793-795)ccA>ccG	p.P265P	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	265								p.P265P(1)									CAGCTGTACCATCACAGCAGT	0.388																																						uc001rks.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(793-795)CCA>CCG		hypothetical protein LOC55196							87.0	86.0	87.0					12																	32134684		2203	4300	6503	SO:0001819	synonymous_variant	55196							g.chr12:32134684A>G	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.795A>G	12.37:g.32134684A>G							p.P265P	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		4	1209	+	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		265					B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Silent	SNP	ENST00000312561.4	37	c.795A>G	CCDS8725.2																																																																																				PASS	0.388	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		64	118	64	118	---	---	---	---
CNTN1	1272	broad.mit.edu	37	12	41419027	41419027	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr12:41419027A>G	ENST00000551295.2	+	21	2716	c.2599A>G	c.(2599-2601)Agg>Ggg	p.R867G	CNTN1_ENST00000347616.1_Missense_Mutation_p.R867G|CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000348761.2_Missense_Mutation_p.R856G	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	867	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.R867G(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GTACTCGGCCAGGCTCGAGAA	0.493																																						uc001rmm.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|large_intestine(1)|skin(1)	9						c.(2599-2601)AGG>GGG		contactin 1 isoform 1 precursor							152.0	170.0	164.0					12																	41419027		2203	4300	6503	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41419027A>G	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2599A>G	12.37:g.41419027A>G	ENSP00000447006:p.Arg867Gly					CNTN1_uc001rmn.1_Missense_Mutation_p.R856G	p.R867G	NM_001843	NP_001834	Q12860	CNTN1_HUMAN			21	2712	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	867			Fibronectin type-III 3.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.2599A>G	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.959421	0.74016	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.57595	0.39;0.39;0.39	4.78	3.59	0.41128	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.101356	0.64402	D	0.000003	T	0.69628	0.3132	M	0.82193	2.58	0.80722	D	1	P;P	0.44816	0.813;0.844	P;P	0.58970	0.765;0.849	T	0.70163	-0.4947	10	0.42905	T	0.14	.	11.9602	0.53005	0.8544:0.1456:0.0:0.0	.	856;867	Q12860-2;Q12860	.;CNTN1_HUMAN	G	867;867;856	ENSP00000447006:R867G;ENSP00000325660:R867G;ENSP00000261160:R856G	ENSP00000325660:R867G	R	+	1	2	CNTN1	39705294	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.228000	0.65310	0.882000	0.36016	0.533000	0.62120	AGG		PASS	0.493	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		111	270	111	270	---	---	---	---
PDZRN4	29951	broad.mit.edu	37	12	41966513	41966513	+	Silent	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr12:41966513C>T	ENST00000402685.2	+	10	1940	c.1932C>T	c.(1930-1932)gaC>gaT	p.D644D	PDZRN4_ENST00000539469.2_Silent_p.D386D|PDZRN4_ENST00000298919.7_Silent_p.D384D	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	644							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D386D(1)|p.D644D(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GAGAGTATGACCTGTATTACT	0.448																																						uc010skn.1																			2	Substitution - coding silent(2)		lung(2)	lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11						c.(1333-1335)GAC>GAT		PDZ domain containing RING finger 4 isoform 2							112.0	104.0	107.0					12																	41966513		2203	4300	6503	SO:0001819	synonymous_variant	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966513C>T	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1932C>T	12.37:g.41966513C>T						PDZRN4_uc001rmq.3_Silent_p.D386D|PDZRN4_uc009zjz.2_Silent_p.D384D|PDZRN4_uc001rmr.2_Silent_p.D271D	p.D445D	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN			10	1403	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	644					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Silent	SNP	ENST00000402685.2	37	c.1335C>T	CCDS53777.1																																																																																				PASS	0.448	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		38	77	38	77	---	---	---	---
ADAMTS20	80070	broad.mit.edu	37	12	43822469	43822469	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr12:43822469C>G	ENST00000389420.3	-	25	3622	c.3623G>C	c.(3622-3624)tGt>tCt	p.C1208S	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.C1208S|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.C326S	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1208	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.C1208S(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CCACTCTCCACAAGGGGTAAA	0.363																																						uc010skx.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(3622-3624)TGT>TCT		a disintegrin-like and metalloprotease with							59.0	54.0	56.0					12																	43822469		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43822469C>G	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3623G>C	12.37:g.43822469C>G	ENSP00000374071:p.Cys1208Ser					ADAMTS20_uc001rno.1_Missense_Mutation_p.C326S|ADAMTS20_uc001rnp.1_Missense_Mutation_p.C362S	p.C1208S	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	25	3623	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1208			TSP type-1 8.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.3623G>C	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504613	0.85176	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.2	5.2	0.72013	.	0.000000	0.56097	D	0.000032	D	0.87541	0.6203	H	0.98005	4.125	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76575	0.988;0.972	D	0.91406	0.5147	10	0.62326	D	0.03	.	19.6349	0.95726	0.0:1.0:0.0:0.0	.	1208;326	P59510;E9PBD5	ATS20_HUMAN;.	S	1208;338;326;1208;1208	ENSP00000374071:C1208S;ENSP00000447427:C338S;ENSP00000378911:C326S;ENSP00000448341:C1208S	ENSP00000374068:C1208S	C	-	2	0	ADAMTS20	42108736	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.409000	0.80053	2.803000	0.96430	0.585000	0.79938	TGT		PASS	0.363	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		19	49	19	49	---	---	---	---
ADAMTS20	80070	broad.mit.edu	37	12	43944852	43944852	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr12:43944852T>A	ENST00000389420.3	-	2	312	c.313A>T	c.(313-315)Acc>Tcc	p.T105S	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.T105S	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	105					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T105S(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGCACCTCGGTGTAGCCGGCG	0.662																																						uc010skx.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(313-315)ACC>TCC		a disintegrin-like and metalloprotease with							42.0	44.0	44.0					12																	43944852		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43944852T>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.313A>T	12.37:g.43944852T>A	ENSP00000374071:p.Thr105Ser						p.T105S	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	2	313	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	105					A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.313A>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	T	15.00	2.702817	0.48307	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.06687	3.27;3.27	4.08	0.199	0.15175	Peptidase M12B, propeptide (1);	0.604283	0.13844	N	0.358845	T	0.09069	0.0224	L	0.41236	1.265	0.45621	D	0.998559	P	0.42456	0.78	P	0.49252	0.604	T	0.43015	-0.9417	10	0.41790	T	0.15	.	1.558	0.02589	0.1409:0.1655:0.1459:0.5477	.	105	P59510	ATS20_HUMAN	S	105	ENSP00000374071:T105S;ENSP00000448341:T105S	ENSP00000374068:T105S	T	-	1	0	ADAMTS20	42231119	0.987000	0.35691	0.164000	0.22755	0.972000	0.66771	0.444000	0.21661	0.024000	0.15214	0.533000	0.62120	ACC		PASS	0.662	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		11	27	11	27	---	---	---	---
HOXC5	3222	broad.mit.edu	37	12	54427303	54427303	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr12:54427303C>A	ENST00000312492.2	+	1	667	c.397C>A	c.(397-399)Cag>Aag	p.Q133K	RP11-834C11.12_ENST00000513209.1_Intron|HOXC4_ENST00000303406.4_Intron|RP11-834C11.14_ENST00000512206.1_RNA|MIR615_ENST00000384839.1_RNA	NM_018953.2	NP_061826.1	Q00444	HXC5_HUMAN	homeobox C5	133					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system development (GO:0048706)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q133K(1)		cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						CGGACTGAGCCAGCCACCGGC	0.632																																						uc001sew.2																			1	Substitution - Missense(1)		lung(1)		0						c.(397-399)CAG>AAG		homeobox C5							16.0	12.0	13.0					12																	54427303		2076	4131	6207	SO:0001583	missense	3222				regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54427303C>A		CCDS8872.1	12q13.13	2011-06-20	2005-12-22		ENSG00000172789	ENSG00000172789		"""Homeoboxes / ANTP class : HOXL subclass"""	5127	protein-coding gene	gene with protein product		142973	"""homeo box C5"""	HOX3D, HOX3		1973146, 1358459	Standard	NM_018953		Approved		uc001sew.3	Q00444	OTTHUMG00000160028	ENST00000312492.2:c.397C>A	12.37:g.54427303C>A	ENSP00000309336:p.Gln133Lys					HOXC5_uc001set.2_Intron|HOXC4_uc001seu.2_Intron|MIR615_hsa-mir-615|MI0003628_5'Flank	p.Q133K	NM_018953	NP_061826	Q00444	HXC5_HUMAN			1	472	+			133						Missense_Mutation	SNP	ENST00000312492.2	37	c.397C>A	CCDS8872.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.438945	0.25900	.	.	ENSG00000172789	ENST00000312492	D	0.90133	-2.62	4.51	4.51	0.55191	Homeodomain-like (1);	0.000000	0.43416	D	0.000576	D	0.87981	0.6315	L	0.59436	1.845	0.80722	D	1	B	0.22276	0.067	B	0.17433	0.018	D	0.84208	0.0454	10	0.20046	T	0.44	.	16.5404	0.84383	0.0:1.0:0.0:0.0	.	133	Q00444	HXC5_HUMAN	K	133	ENSP00000309336:Q133K	ENSP00000309336:Q133K	Q	+	1	0	HOXC5	52713570	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.840000	0.48215	2.503000	0.84419	0.609000	0.83330	CAG		PASS	0.632	HOXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358947.1			5	4	5	4	---	---	---	---
SLC26A10	65012	broad.mit.edu	37	12	58017644	58017644	+	Missense_Mutation	SNP	T	T	A	rs561569782		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr12:58017644T>A	ENST00000320442.4	+	8	1390	c.1079T>A	c.(1078-1080)gTg>gAg	p.V360E	SLC26A10_ENST00000379218.2_Missense_Mutation_p.V360E	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	360						integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)	p.V360E(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					TCCTGCACAGTGGTCCTGTCG	0.567																																						uc001spe.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|central_nervous_system(1)	2						c.(1078-1080)GTG>GAG		solute carrier family 26, member 10							106.0	104.0	104.0					12																	58017644		2203	4300	6503	SO:0001583	missense	65012					integral to membrane	antiporter activity	g.chr12:58017644T>A		CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502		"""Solute carriers"""	14470	protein-coding gene	gene with protein product							Standard	NM_133489		Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	ENST00000320442.4:c.1079T>A	12.37:g.58017644T>A	ENSP00000320217:p.Val360Glu					SLC26A10_uc001spf.2_RNA|SLC26A10_uc009zpz.1_5'Flank	p.V360E	NM_133489	NP_597996	Q8NG04	S2610_HUMAN			8	1390	+	Melanoma(17;0.122)		360			Helical; (Potential).		A6NMJ2|B6ZDQ3|Q6ZWI7	Missense_Mutation	SNP	ENST00000320442.4	37	c.1079T>A	CCDS8949.2	.	.	.	.	.	.	.	.	.	.	.	18.71	3.682948	0.68157	.	.	ENSG00000135502	ENST00000320442;ENST00000379218	D;D	0.94092	-3.35;-3.35	3.92	3.92	0.45320	Sulphate transporter (1);	.	.	.	.	D	0.96291	0.8790	M	0.84948	2.725	0.80722	D	1	D	0.71674	0.998	D	0.70227	0.968	D	0.96464	0.9343	9	0.87932	D	0	.	11.3712	0.49699	0.0:0.0:0.0:1.0	.	360	Q8NG04	S2610_HUMAN	E	360	ENSP00000320217:V360E;ENSP00000368520:V360E	ENSP00000320217:V360E	V	+	2	0	SLC26A10	56303911	0.996000	0.38824	0.943000	0.38184	0.668000	0.39293	4.946000	0.63576	2.000000	0.58554	0.459000	0.35465	GTG		PASS	0.567	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250311.2			37	103	37	103	---	---	---	---
TSPAN31	6302	broad.mit.edu	37	12	58135772	58135772	+	5'Flank	SNP	C	C	T	rs145881416		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr12:58135772C>T	ENST00000257910.3	+	0	0				TSPAN31_ENST00000553221.1_Intron|AGAP2_ENST00000257897.3_Missense_Mutation_p.R28H	NM_005981.3	NP_005972.1	Q12999	TSN31_HUMAN	tetraspanin 31						positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.R28H(2)		endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CTTCCTGAGGCGGTTTAGAGC	0.567																																						uc001spr.2																			2	Substitution - Missense(2)		lung(1)|prostate(1)	central_nervous_system(3)|breast(2)	5						c.(82-84)CGC>CAC		centaurin, gamma 1 isoform PIKE-S			HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	209.0	168.0	182.0		83	1.6	1.0	12	dbSNP_134	182	0,8600		0,0,4300	no	missense	AGAP2	NM_014770.3	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		28/837	58135772	2,13004	2203	4300	6503	SO:0001631	upstream_gene_variant	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58135772C>T		CCDS8952.1	12q13-q14	2013-02-14	2005-08-16	2005-08-16		ENSG00000135452		"""Tetraspanins"""	10539	protein-coding gene	gene with protein product		181035	"""sarcoma amplified sequence"""	SAS			Standard	NM_005981		Approved		uc001spt.3	Q12999			12.37:g.58135772C>T	Exception_encountered						p.R28H	NM_014770	NP_055585	Q99490	AGAP2_HUMAN			1	169	-			Error:Variant_position_missing_in_Q99490_after_alignment					O00577|Q53X76	Missense_Mutation	SNP	ENST00000257910.3	37	c.83G>A	CCDS8952.1	.	.	.	.	.	.	.	.	.	.	c	11.70	1.717698	0.30413	4.54E-4	0.0	ENSG00000135439	ENST00000257897	T	0.31510	1.49	4.66	1.64	0.23874	.	.	.	.	.	T	0.19805	0.0476	.	.	.	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.15178	-1.0446	8	0.54805	T	0.06	.	3.332	0.07088	0.2046:0.5768:0.0:0.2186	.	28	Q99490-2	.	H	28	ENSP00000257897:R28H	ENSP00000257897:R28H	R	-	2	0	AGAP2	56422039	0.987000	0.35691	0.987000	0.45799	0.489000	0.33432	0.286000	0.18902	1.104000	0.41587	0.282000	0.19409	CGC		PASS	0.567	TSPAN31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408778.1			6	172	6	172	---	---	---	---
LEMD3	23592	broad.mit.edu	37	12	65632464	65632464	+	Silent	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr12:65632464C>T	ENST00000308330.2	+	6	1817	c.1791C>T	c.(1789-1791)ggC>ggT	p.G597G		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	597					negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)	p.G597G(1)		breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TTGGTTTTGGCCCTGAGGAAG	0.368																																						uc001ssl.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(1789-1791)GGC>GGT		LEM domain containing 3							132.0	125.0	128.0					12																	65632464		2203	4300	6503	SO:0001819	synonymous_variant	23592				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	g.chr12:65632464C>T	AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.1791C>T	12.37:g.65632464C>T						LEMD3_uc009zqo.1_Silent_p.G596G	p.G597G	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	6	1797	+			597					Q9NT47|Q9NYA5	Silent	SNP	ENST00000308330.2	37	c.1791C>T	CCDS8972.1																																																																																				PASS	0.368	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2			35	102	35	102	---	---	---	---
MDM1	56890	broad.mit.edu	37	12	68716991	68716991	+	Silent	SNP	T	T	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr12:68716991T>A	ENST00000303145.7	-	5	749	c.663A>T	c.(661-663)ccA>ccT	p.P221P	MDM1_ENST00000411698.2_Silent_p.P176P|MDM1_ENST00000540418.1_5'UTR|MDM1_ENST00000545724.1_5'Flank	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	221					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)		p.P221P(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		CTTTGAATGGTGGAACAAACT	0.299																																						uc001stz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)	5						c.(661-663)CCA>CCT		mouse Mdm1 nuclear protein homolog isoform 1							98.0	97.0	97.0					12																	68716991		2203	4300	6503	SO:0001819	synonymous_variant	56890					nucleus		g.chr12:68716991T>A	AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"""Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"""			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.663A>T	12.37:g.68716991T>A						MDM1_uc010stc.1_Silent_p.P176P|MDM1_uc009zqv.1_5'UTR	p.P221P	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)	5	799	-			221					B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Silent	SNP	ENST00000303145.7	37	c.663A>T	CCDS8983.1																																																																																				PASS	0.299	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	NM_020128		49	146	49	146	---	---	---	---
RAB3IP	117177	broad.mit.edu	37	12	70206564	70206564	+	Silent	SNP	T	T	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr12:70206564T>C	ENST00000247833.7	+	9	1513	c.1137T>C	c.(1135-1137)tgT>tgC	p.C379C	RAB3IP_ENST00000550847.1_Silent_p.C86C|AC025263.3_ENST00000550437.1_Silent_p.C20C|RAB3IP_ENST00000551641.1_Silent_p.C173C|RAB3IP_ENST00000362025.5_Intron|RAB3IP_ENST00000550536.1_Silent_p.C395C|RAB3IP_ENST00000483530.2_Intron|RAB3IP_ENST00000553099.1_Silent_p.C173C|RAB3IP_ENST00000325555.9_Silent_p.C173C					RAB3A interacting protein									p.C395C(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			ACAGAAAATGTGCTCTCACTG	0.343																																						uc001svp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1183-1185)TGT>TGC		RAB3A interacting protein isoform alpha 2							63.0	66.0	65.0					12																	70206564		2203	4300	6503	SO:0001819	synonymous_variant	117177				cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding	g.chr12:70206564T>C		CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"""rabin3"""	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000247833.7:c.1137T>C	12.37:g.70206564T>C						RAB3IP_uc001svm.2_Silent_p.C379C|RAB3IP_uc001svn.2_Intron|RAB3IP_uc001svo.2_RNA|RAB3IP_uc001svq.2_Intron|RAB3IP_uc001svr.2_Intron|RAB3IP_uc001svs.2_RNA|RAB3IP_uc001svt.2_Silent_p.C173C	p.C395C	NM_175623	NP_783322	Q96QF0	RAB3I_HUMAN	Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)		9	1632	+	Esophageal squamous(21;0.187)		395						Silent	SNP	ENST00000247833.7	37	c.1185T>C	CCDS8995.1	.	.	.	.	.	.	.	.	.	.	T	13.71	2.319079	0.41096	.	.	ENSG00000127328	ENST00000550647;ENST00000526994	.	.	.	5.91	2.22	0.28083	.	.	.	.	.	T	0.58949	0.2158	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53279	-0.8461	4	.	.	.	.	9.9495	0.41630	0.0:0.1956:0.0:0.8044	.	.	.	.	A	231;111	.	.	V	+	2	0	RAB3IP	68492831	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.669000	0.37492	0.486000	0.27676	0.528000	0.53228	GTG		PASS	0.343	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280671.2	NM_022456		31	65	31	65	---	---	---	---
TPH2	121278	broad.mit.edu	37	12	72372760	72372760	+	Silent	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr12:72372760G>A	ENST00000333850.3	+	7	975	c.834G>A	c.(832-834)gtG>gtA	p.V278V		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	278					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)	p.V278V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TGAGGCCGGTGGCTGGATACC	0.532																																						uc009zrw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(832-834)GTG>GTA		tryptophan hydroxylase 2	L-Tryptophan(DB00150)						108.0	108.0	108.0					12																	72372760		2203	4300	6503	SO:0001819	synonymous_variant	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72372760G>A	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.834G>A	12.37:g.72372760G>A						TPH2_uc001swy.2_Silent_p.V188V	p.V278V	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN			7	975	+			278					A6NGA4|Q14CB0	Silent	SNP	ENST00000333850.3	37	c.834G>A	CCDS31859.1																																																																																				PASS	0.532	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		49	107	49	107	---	---	---	---
TRHDE	29953	broad.mit.edu	37	12	72969167	72969167	+	Splice_Site	SNP	A	A	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr12:72969167A>T	ENST00000261180.4	+	11	2225	c.2129A>T	c.(2128-2130)gAg>gTg	p.E710V	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	710					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E710V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CGGAATCATGAGGTACACTCC	0.353																																						uc001sxa.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2128-2130)GAG>GTG		thyrotropin-releasing hormone degrading enzyme							103.0	101.0	102.0					12																	72969167		2203	4300	6503	SO:0001630	splice_region_variant	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72969167A>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2130+1A>T	12.37:g.72969167A>T							p.E710V	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			11	2159	+			710			Extracellular (Potential).		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.2129A>T	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	A	14.75	2.627223	0.46944	.	.	ENSG00000072657	ENST00000261180	T	0.01414	4.92	5.53	5.53	0.82687	.	0.285159	0.39985	N	0.001218	T	0.03477	0.0100	M	0.77406	2.37	0.58432	D	0.999991	P	0.40515	0.719	B	0.39217	0.294	T	0.50988	-0.8762	10	0.38643	T	0.18	.	15.9688	0.79995	1.0:0.0:0.0:0.0	.	710	Q9UKU6	TRHDE_HUMAN	V	710	ENSP00000261180:E710V	ENSP00000261180:E710V	E	+	2	0	TRHDE	71255434	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	5.167000	0.64972	2.231000	0.72958	0.460000	0.39030	GAG		PASS	0.353	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381	Missense_Mutation	30	84	30	84	---	---	---	---
CEP290	80184	broad.mit.edu	37	12	88505121	88505121	+	Missense_Mutation	SNP	T	T	C	rs281865193		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr12:88505121T>C	ENST00000552810.1	-	22	2568	c.2225A>G	c.(2224-2226)cAt>cGt	p.H742R	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Missense_Mutation_p.H744R	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	742					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.H744R(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTTTTCAAGATGGTCTATCTG	0.368																																						uc001tar.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(1)|pancreas(1)	7	GRCh37	CD062130	CEP290	D		c.(2224-2226)CAT>CGT		centrosomal protein 290kDa							47.0	41.0	42.0					12																	88505121		1836	4069	5905	SO:0001583	missense	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88505121T>C	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.2225A>G	12.37:g.88505121T>C	ENSP00000448012:p.His742Arg					CEP290_uc001tat.2_Missense_Mutation_p.H535R|CEP290_uc009zsl.1_RNA	p.H742R	NM_025114	NP_079390	O15078	CE290_HUMAN			22	2569	-			742			Potential.		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	c.2225A>G	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	T	13.79	2.341667	0.41498	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998	T;T	0.77358	-1.09;-1.09	5.86	5.86	0.93980	.	0.208483	0.46145	D	0.000312	T	0.61148	0.2324	N	0.16478	0.41	0.80722	D	1	B;B	0.33583	0.418;0.002	B;B	0.28011	0.085;0.006	T	0.61466	-0.7057	10	0.10902	T	0.67	.	16.2405	0.82405	0.0:0.0:0.0:1.0	.	742;742	Q05BJ6;O15078	.;CE290_HUMAN	R	742;744;742	ENSP00000448012:H742R;ENSP00000308021:H744R	ENSP00000308021:H744R	H	-	2	0	CEP290	87029252	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.025000	0.57225	2.238000	0.73509	0.477000	0.44152	CAT		PASS	0.368	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		6	17	6	17	---	---	---	---
CFAP54	144535	broad.mit.edu	37	12	97112245	97112245	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr12:97112245G>T	ENST00000524981.4	+	49	6772	c.6749G>T	c.(6748-6750)aGt>aTt	p.S2250I				Q96N23	CL055_HUMAN		0								p.S675I(1)									GATGATGGAAGTTCATTTTAT	0.269																																						uc001tet.1																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(1)	7						c.(2023-2025)AGT>ATT		hypothetical protein LOC374467							66.0	70.0	68.0					12																	97112245		2200	4298	6498	SO:0001583	missense	374467							g.chr12:97112245G>T																												ENST00000524981.4:c.6749G>T	12.37:g.97112245G>T	ENSP00000431759:p.Ser2250Ile						p.S675I	NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN			16	2102	+			675						Missense_Mutation	SNP	ENST00000524981.4	37	c.2024G>T		.	.	.	.	.	.	.	.	.	.	G	9.488	1.100018	0.20552	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	4.5	0.15	0.14883	.	1.361530	0.04694	N	0.414728	T	0.26521	0.0648	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19811	-1.0294	8	0.41790	T	0.15	0.0758	1.8869	0.03240	0.1961:0.157:0.4865:0.1604	.	675	Q6ZTY8	CL063_HUMAN	I	2250;675	.	ENSP00000345466:S675I	S	+	2	0	C12orf63	95636376	0.000000	0.05858	0.002000	0.10522	0.215000	0.24574	-1.026000	0.03596	0.100000	0.17581	0.313000	0.20887	AGT		PASS	0.269	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			25	96	25	96	---	---	---	---
CFAP54	144535	broad.mit.edu	37	12	97133762	97133762	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr12:97133762C>T	ENST00000524981.4	+	51	7017	c.6994C>T	c.(6994-6996)Ctt>Ttt	p.L2332F				Q96N23	CL055_HUMAN		0								p.L757F(1)									TACACTTACACTTCTCCAGGA	0.313																																						uc001tet.1																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(1)	7						c.(2269-2271)CTT>TTT		hypothetical protein LOC374467							60.0	61.0	61.0					12																	97133762		2203	4297	6500	SO:0001583	missense	374467							g.chr12:97133762C>T																												ENST00000524981.4:c.6994C>T	12.37:g.97133762C>T	ENSP00000431759:p.Leu2332Phe						p.L757F	NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN			18	2347	+			757						Missense_Mutation	SNP	ENST00000524981.4	37	c.2269C>T		.	.	.	.	.	.	.	.	.	.	C	17.18	3.324603	0.60634	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	4.45	3.47	0.39725	.	0.518270	0.17752	N	0.163216	T	0.62478	0.2431	M	0.63843	1.955	0.30067	N	0.810355	D	0.76494	0.999	D	0.74023	0.982	T	0.59354	-0.7470	9	0.59425	D	0.04	-13.1898	11.299	0.49294	0.1819:0.8181:0.0:0.0	.	757	Q6ZTY8	CL063_HUMAN	F	2332;757	.	ENSP00000345466:L757F	L	+	1	0	C12orf63	95657893	0.994000	0.37717	0.994000	0.49952	0.927000	0.56198	2.470000	0.45119	2.412000	0.81896	0.313000	0.20887	CTT		PASS	0.313	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			19	53	19	53	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104056738	104056738	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr12:104056738C>T	ENST00000388887.2	+	18	2188	c.1984C>T	c.(1984-1986)Ccc>Tcc	p.P662S		NM_017564.9	NP_060034.9			stabilin 2									p.P662S(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCCGATTCTGCCCCATCGATG	0.453																																						uc001tjw.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(5)	14						c.(1984-1986)CCC>TCC		stabilin 2 precursor							136.0	132.0	134.0					12																	104056738		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104056738C>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1984C>T	12.37:g.104056738C>T	ENSP00000373539:p.Pro662Ser						p.P662S	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			18	2170	+			662			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000388887.2	37	c.1984C>T	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092204	0.76756	.	.	ENSG00000136011	ENST00000388887	T	0.68903	-0.36	5.31	5.31	0.75309	.	0.061251	0.64402	D	0.000003	T	0.69878	0.3160	L	0.45744	1.44	0.50813	D	0.999891	P	0.52577	0.954	P	0.50352	0.638	T	0.68864	-0.5296	10	0.37606	T	0.19	.	18.6129	0.91293	0.0:1.0:0.0:0.0	.	662	Q8WWQ8	STAB2_HUMAN	S	662	ENSP00000373539:P662S	ENSP00000373539:P662S	P	+	1	0	STAB2	102580868	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	6.475000	0.73582	2.478000	0.83669	0.655000	0.94253	CCC		PASS	0.453	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			37	121	37	121	---	---	---	---
DAO	1610	broad.mit.edu	37	12	109292474	109292474	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr12:109292474G>T	ENST00000228476.3	+	9	919	c.715G>T	c.(715-717)Gga>Tga	p.G239*	DAO_ENST00000551281.1_Nonsense_Mutation_p.G173*	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	239					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)	p.G239*(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	AGTTACTCTTGGAGGCATCTT	0.468																																						uc001tnr.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(715-717)GGA>TGA		D-amino-acid oxidase							120.0	109.0	113.0					12																	109292474		2203	4300	6503	SO:0001587	stop_gained	1610				glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity	g.chr12:109292474G>T	D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.715G>T	12.37:g.109292474G>T	ENSP00000228476:p.Gly239*					DAO_uc001tnq.3_Nonsense_Mutation_p.G173*|DAO_uc009zvb.2_RNA|DAO_uc001tns.3_RNA	p.G239*	NM_001917	NP_001908	P14920	OXDA_HUMAN			9	868	+			239					B2R7I5|Q16758|Q8N6R2	Nonsense_Mutation	SNP	ENST00000228476.3	37	c.715G>T	CCDS9122.1	.	.	.	.	.	.	.	.	.	.	g	37	6.156713	0.97334	.	.	ENSG00000110887	ENST00000551281;ENST00000228476;ENST00000547768	.	.	.	4.72	3.83	0.44106	.	0.050900	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-10.5708	10.4317	0.44411	0.0969:0.0:0.9031:0.0	.	.	.	.	X	173;239;116	.	ENSP00000228476:G239X	G	+	1	0	DAO	107816603	1.000000	0.71417	0.361000	0.25849	0.457000	0.32468	8.307000	0.89964	0.986000	0.38683	0.472000	0.43445	GGA		PASS	0.468	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1			29	87	29	87	---	---	---	---
ACACB	32	broad.mit.edu	37	12	109650737	109650737	+	Nonsense_Mutation	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr12:109650737C>T	ENST00000338432.7	+	22	3465	c.3346C>T	c.(3346-3348)Cag>Tag	p.Q1116*	ACACB_ENST00000377854.5_Nonsense_Mutation_p.Q1116*|ACACB_ENST00000377848.3_Nonsense_Mutation_p.Q1116*			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1116					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.Q1116*(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GCAGTTGGTCCAGAGGTGAAT	0.587																																						uc001tob.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(3346-3348)CAG>TAG		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)						168.0	142.0	151.0					12																	109650737		2203	4300	6503	SO:0001587	stop_gained	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109650737C>T	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.3346C>T	12.37:g.109650737C>T	ENSP00000341044:p.Gln1116*					ACACB_uc001toc.2_Nonsense_Mutation_p.Q1116*	p.Q1116*	NM_001093	NP_001084	O00763	ACACB_HUMAN			22	3465	+			1116					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Nonsense_Mutation	SNP	ENST00000338432.7	37	c.3346C>T	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	43	9.838256	0.99276	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	19.7462	0.96252	0.0:1.0:0.0:0.0	.	.	.	.	X	1116;1116;1116;347	.	ENSP00000341044:Q1116X	Q	+	1	0	ACACB	108135120	1.000000	0.71417	0.963000	0.40424	0.806000	0.45545	7.723000	0.84788	2.736000	0.93811	0.655000	0.94253	CAG		PASS	0.587	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		30	101	30	101	---	---	---	---
KSR2	283455	broad.mit.edu	37	12	117977639	117977639	+	Silent	SNP	C	C	G	rs185747543	byFrequency	TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr12:117977639C>G	ENST00000339824.5	-	10	2299	c.1572G>C	c.(1570-1572)acG>acC	p.T524T	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000425217.1_Silent_p.T495T|KSR2_ENST00000302438.5_Silent_p.T221T			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	524	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.T556T(1)|p.T221T(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGAGGACGTCGTGGAGGAGG	0.642																																						uc001two.2																			2	Substitution - coding silent(2)		lung(2)	lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15						c.(1483-1485)ACG>ACC		kinase suppressor of ras 2							95.0	116.0	109.0					12																	117977639		2150	4248	6398	SO:0001819	synonymous_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117977639C>G	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1572G>C	12.37:g.117977639C>G							p.T495T	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			10	1540	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		524			Pro-rich.		A0PJT2|Q3B828|Q8N775	Silent	SNP	ENST00000339824.5	37	c.1485G>C																																																																																					PASS	0.642	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		12	34	12	34	---	---	---	---
BRI3BP	140707	broad.mit.edu	37	12	125509875	125509875	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr12:125509875A>T	ENST00000341446.8	+	3	746	c.655A>T	c.(655-657)Agc>Tgc	p.S219C		NM_080626.5	NP_542193.3			BRI3 binding protein									p.S219C(1)		large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		cagcaaccccagcGTGGAGGA	0.637																																						uc001uha.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(655-657)AGC>TGC		BRI3-binding protein							23.0	26.0	25.0					12																	125509875		2203	4300	6503	SO:0001583	missense	140707					integral to membrane|mitochondrial outer membrane		g.chr12:125509875A>T	AF284094	CCDS9262.1	12q24.1	2008-08-04			ENSG00000184992	ENSG00000184992			14251	protein-coding gene	gene with protein product		615627				11860200, 17765869	Standard	NM_080626		Approved	BNAS1, KG19, HCCR-2	uc001uha.1	Q8WY22	OTTHUMG00000168548	ENST00000341446.8:c.655A>T	12.37:g.125509875A>T	ENSP00000340761:p.Ser219Cys						p.S219C	NM_080626	NP_542193	Q8WY22	BRI3B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)	3	798	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		219			Potential.			Missense_Mutation	SNP	ENST00000341446.8	37	c.655A>T	CCDS9262.1	.	.	.	.	.	.	.	.	.	.	a	14.27	2.485368	0.44147	.	.	ENSG00000184992	ENST00000341446	.	.	.	5.23	2.78	0.32641	.	0.371290	0.36034	N	0.002830	T	0.53045	0.1772	L	0.50333	1.59	0.42940	D	0.994343	D	0.54964	0.969	P	0.50378	0.639	T	0.53746	-0.8395	9	0.87932	D	0	-11.9183	9.759	0.40522	0.856:0.0:0.144:0.0	.	219	Q8WY22	BRI3B_HUMAN	C	219	.	ENSP00000340761:S219C	S	+	1	0	BRI3BP	124075828	0.995000	0.38212	0.969000	0.41365	0.088000	0.18126	2.510000	0.45468	0.278000	0.22164	-0.450000	0.05554	AGC		PASS	0.637	BRI3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400200.2	NM_080626		12	28	12	28	---	---	---	---
TMEM132D	121256	broad.mit.edu	37	12	130184571	130184571	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr12:130184571C>A	ENST00000422113.2	-	2	1078	c.752G>T	c.(751-753)cGg>cTg	p.R251L	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	251					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.R251L(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GTGGCCTGTCCGGATCCCATT	0.617																																						uc009zyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(751-753)CGG>CTG		transmembrane protein 132D precursor							100.0	87.0	92.0					12																	130184571		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:130184571C>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.752G>T	12.37:g.130184571C>A	ENSP00000408581:p.Arg251Leu						p.R251L	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	1080	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	251			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.752G>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.435441	0.43224	.	.	ENSG00000151952	ENST00000422113	T	0.14766	2.48	5.35	2.37	0.29283	.	0.779071	0.11556	N	0.552315	T	0.20373	0.0490	M	0.77103	2.36	0.09310	N	1	P	0.43701	0.815	B	0.41571	0.36	T	0.08806	-1.0704	9	.	.	.	-18.8043	10.4046	0.44249	0.0:0.6693:0.2605:0.0702	.	251	Q14C87	T132D_HUMAN	L	251	ENSP00000408581:R251L	.	R	-	2	0	TMEM132D	128750524	0.001000	0.12720	0.001000	0.08648	0.035000	0.12851	0.231000	0.17872	0.598000	0.29829	0.650000	0.86243	CGG		PASS	0.617	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		33	97	33	97	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132562020	132562020	+	Silent	SNP	C	C	T	rs149254036		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr12:132562020C>T	ENST00000333577.4	+	54	9391	c.9282C>T	c.(9280-9282)acC>acT	p.T3094T	EP400_ENST00000389562.2_Silent_p.T3057T|EP400_ENST00000332482.4_Silent_p.T3021T|RP13-820C6.2_ENST00000542422.1_RNA|EP400_ENST00000330386.6_Silent_p.T2977T|EP400_ENST00000389561.2_Silent_p.T3058T			Q96L91	EP400_HUMAN	E1A binding protein p400	3094					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.T3057T(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CTGCAGTGACCGCGACTGCCC	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		16807	0.0		0.001	False		,,,				2504	0.0					uc001ujn.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(9172-9174)ACC>ACT		E1A binding protein p400		C		0,4406		0,0,2203	44.0	45.0	45.0		9174	-11.2	0.0	12	dbSNP_134	45	2,8592		0,2,4295	no	coding-synonymous	EP400	NM_015409.4		0,2,6498	TT,TC,CC		0.0233,0.0,0.0154		3058/3124	132562020	2,12998	2203	4297	6500	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132562020C>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.9282C>T	12.37:g.132562020C>T						EP400_uc001ujl.2_Silent_p.T3057T|EP400_uc001ujm.2_Silent_p.T2977T|EP400_uc001ujp.2_Silent_p.T268T|EP400_uc010tbo.1_Missense_Mutation_p.R125C	p.T3058T	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	52	9209	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	3094					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.9174C>T																																																																																					PASS	0.652	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		33	69	33	69	---	---	---	---
POLE	5426	broad.mit.edu	37	12	133201511	133201511	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr12:133201511C>A	ENST00000320574.5	-	48	6770	c.6727G>T	c.(6727-6729)Gcc>Tcc	p.A2243S	POLE_ENST00000535270.1_Missense_Mutation_p.A2216S	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2243					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.A2243S(2)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	ATGGTGAGGGCGAAGTCTCCC	0.657								DNA polymerases (catalytic subunits)																														uc001uks.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(6727-6729)GCC>TCC	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase epsilon							96.0	95.0	96.0					12																	133201511		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133201511C>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.6727G>T	12.37:g.133201511C>A	ENSP00000322570:p.Ala2243Ser					POLE_uc001ukq.1_Missense_Mutation_p.A453S|POLE_uc001ukr.1_Missense_Mutation_p.A1047S|POLE_uc010tbq.1_RNA	p.A2243S	NM_006231	NP_006222	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	48	6771	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	2243					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.6727G>T	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	0.824	-0.747752	0.03065	.	.	ENSG00000177084	ENST00000434528;ENST00000320574;ENST00000455752;ENST00000320557;ENST00000535270	T;T;T	0.02631	4.22;4.22;4.22	5.52	-8.86	0.00795	.	1.382530	0.04397	N	0.363543	T	0.02047	0.0064	L	0.31926	0.97	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.12156	0.002;0.007	T	0.45877	-0.9231	10	0.13470	T	0.59	.	6.3917	0.21591	0.3421:0.2121:0.0:0.4458	.	2243;453	Q07864;B3KS74	DPOE1_HUMAN;.	S	453;2243;2254;213;2216	ENSP00000322570:A2243S;ENSP00000406383:A2254S;ENSP00000445753:A2216S	ENSP00000322473:A213S	A	-	1	0	POLE	131711584	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-1.816000	0.01720	-1.280000	0.02402	-0.258000	0.10820	GCC		PASS	0.657	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		11	38	11	38	---	---	---	---
FRY	10129	broad.mit.edu	37	13	32835816	32835816	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr13:32835816T>A	ENST00000380250.3	+	52	7976	c.7480T>A	c.(7480-7482)Tgt>Agt	p.C2494S	FRY_ENST00000542859.1_5'Flank	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2494						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.C2494S(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCTGGATAAGTGTGATATGCA	0.493																																						uc001utx.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(1)|skin(1)	7						c.(7480-7482)TGT>AGT		furry homolog							80.0	84.0	83.0					13																	32835816		2014	4177	6191	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32835816T>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.7480T>A	13.37:g.32835816T>A	ENSP00000369600:p.Cys2494Ser					FRY_uc010tdw.1_RNA|FRY_uc001uty.2_Missense_Mutation_p.C49S|FRY_uc001utz.2_Missense_Mutation_p.C19S|FRY_uc010tdx.1_5'Flank	p.C2494S	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	52	7976	+		Lung SC(185;0.0271)	2494					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.7480T>A	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	T	9.427	1.084589	0.20309	.	.	ENSG00000073910	ENST00000380250;ENST00000380235	T	0.20598	2.06	5.68	5.68	0.88126	.	0.085025	0.85682	D	0.000000	T	0.11537	0.0281	N	0.08118	0	0.80722	D	1	B;B	0.11235	0.004;0.001	B;B	0.10450	0.005;0.002	T	0.14868	-1.0457	10	0.09843	T	0.71	.	15.9354	0.79698	0.0:0.0:0.0:1.0	.	275;2494	Q8NB82;Q5TBA9	.;FRY_HUMAN	S	2494;138	ENSP00000369600:C2494S	ENSP00000369567:C138S	C	+	1	0	FRY	31733816	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.506000	0.53364	2.182000	0.69389	0.533000	0.62120	TGT		PASS	0.493	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		36	25	36	25	---	---	---	---
N4BP2L2	10443	broad.mit.edu	37	13	33096393	33096393	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr13:33096393C>A	ENST00000267068.3	-	4	1563	c.1399G>T	c.(1399-1401)Gat>Tat	p.D467Y	N4BP2L2_ENST00000446957.2_Missense_Mutation_p.D467Y|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.D38Y|N4BP2L2_ENST00000504114.1_Missense_Mutation_p.D23Y|N4BP2L2_ENST00000357505.6_Missense_Mutation_p.D23Y	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	467					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.D38Y(1)|p.D467Y(1)		kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		CTTCCCTGATCGATAGCTTGT	0.259																																						uc001uuk.3																			2	Substitution - Missense(2)		lung(2)		0						c.(1399-1401)GAT>TAT		phosphonoformate immuno-associated protein 5							103.0	105.0	105.0					13																	33096393		2202	4296	6498	SO:0001583	missense	10443							g.chr13:33096393C>A	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000267068.3:c.1399G>T	13.37:g.33096393C>A	ENSP00000267068:p.Asp467Tyr					N4BP2L2_uc001uuj.2_5'UTR|N4BP2L2_uc010abe.1_Missense_Mutation_p.D38Y|N4BP2L2_uc010tdz.1_Missense_Mutation_p.D23Y	p.D467Y	NM_014887	NP_055702	Q92802	N42L2_HUMAN		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	4	1577	-		Lung SC(185;0.0262)	467					A3KME8	Missense_Mutation	SNP	ENST00000267068.3	37	c.1399G>T	CCDS9346.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.995341	0.35226	.	.	ENSG00000244754	ENST00000504114;ENST00000357505;ENST00000399396;ENST00000446957;ENST00000505213;ENST00000267068	T;T;T	0.42900	0.96;0.96;0.96	5.72	0.387	0.16259	.	.	.	.	.	T	0.41465	0.1160	L	0.35542	1.07	0.23346	N	0.997861	P;B;D	0.64830	0.84;0.225;0.994	P;B;P	0.57911	0.471;0.147;0.829	T	0.24297	-1.0164	9	0.62326	D	0.03	-0.955	4.3295	0.11057	0.2626:0.5195:0.0:0.2179	.	23;38;467	B4DPY1;Q92802-3;Q92802	.;.;N42L2_HUMAN	Y	23;23;38;467;467;467	ENSP00000394239:D467Y;ENSP00000423362:D467Y;ENSP00000267068:D467Y	ENSP00000267068:D467Y	D	-	1	0	N4BP2L2	31994393	0.999000	0.42202	0.389000	0.26208	0.981000	0.71138	0.841000	0.27613	-0.239000	0.09710	0.591000	0.81541	GAT		PASS	0.259	N4BP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044421.1	NM_014887		59	92	59	92	---	---	---	---
TNFSF11	8600	broad.mit.edu	37	13	43180990	43180990	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr13:43180990C>T	ENST00000239849.6	+	5	1041	c.890C>T	c.(889-891)tCc>tTc	p.S297F	TNFSF11_ENST00000405262.2_Missense_Mutation_p.S224F|TNFSF11_ENST00000544862.1_Missense_Mutation_p.S224F|TNFSF11_ENST00000358545.2_Missense_Mutation_p.S224F|TNFSF11_ENST00000398795.2_Missense_Mutation_p.S224F			O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	297					activation of JUN kinase activity (GO:0007257)|bone resorption (GO:0045453)|calcium ion homeostasis (GO:0055074)|cytokine-mediated signaling pathway (GO:0019221)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|monocyte chemotaxis (GO:0002548)|organ morphogenesis (GO:0009887)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of bone resorption (GO:0045780)|positive regulation of corticotropin-releasing hormone secretion (GO:0051466)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast development (GO:2001206)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	cytokine activity (GO:0005125)|tumor necrosis factor receptor binding (GO:0005164)|tumor necrosis factor receptor superfamily binding (GO:0032813)	p.S297F(1)		kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	Denosumab(DB06643)|Lenalidomide(DB00480)	TCCAACCCCTCCTTACTGGAT	0.423																																						uc001uyu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(889-891)TCC>TTC		tumor necrosis factor ligand superfamily, member							96.0	99.0	98.0					13																	43180990		2203	4300	6503	SO:0001583	missense	8600				immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding	g.chr13:43180990C>T	AF013171	CCDS9384.1, CCDS9385.1	13q14	2008-02-05			ENSG00000120659	ENSG00000120659		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11926	protein-coding gene	gene with protein product		602642				9312132, 9367155	Standard	NM_003701		Approved	TRANCE, RANKL, OPGL, ODF, CD254	uc001uyu.2	O14788	OTTHUMG00000016807	ENST00000239849.6:c.890C>T	13.37:g.43180990C>T	ENSP00000239849:p.Ser297Phe					TNFSF11_uc001uyt.2_Missense_Mutation_p.S224F	p.S297F	NM_003701	NP_003692	O14788	TNF11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	5	1039	+		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	297			Extracellular (Potential).		O14723|Q96Q17|Q9P2Q3	Missense_Mutation	SNP	ENST00000239849.6	37	c.890C>T	CCDS9384.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845643	0.32606	.	.	ENSG00000120659	ENST00000358545;ENST00000405262;ENST00000239849;ENST00000398795;ENST00000544862	D;D;D;D;D	0.95137	-3.62;-3.62;-3.62;-3.62;-3.62	5.74	4.9	0.64082	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.462460	0.23815	N	0.044293	D	0.92004	0.7467	L	0.55990	1.75	0.35225	D	0.776382	P	0.44139	0.827	B	0.42522	0.39	D	0.93826	0.7123	10	0.87932	D	0	-4.9713	7.8095	0.29221	0.1317:0.7305:0.0:0.1378	.	297	O14788	TNF11_HUMAN	F	224;224;297;224;224	ENSP00000351347:S224F;ENSP00000384042:S224F;ENSP00000239849:S297F;ENSP00000381775:S224F;ENSP00000444913:S224F	ENSP00000239849:S297F	S	+	2	0	TNFSF11	42078990	0.964000	0.33143	0.993000	0.49108	0.499000	0.33736	2.002000	0.40835	1.568000	0.49683	0.563000	0.77884	TCC		PASS	0.423	TNFSF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044702.2			69	83	69	83	---	---	---	---
KLHL1	57626	broad.mit.edu	37	13	70681734	70681734	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr13:70681734G>T	ENST00000377844.4	-	1	857	c.98C>A	c.(97-99)gCg>gAg	p.A33E	ATXN8OS_ENST00000424524.1_RNA|KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	33					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.A33E(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GCCTCCCCCCGCCGGGCCGCC	0.622																																						uc001vip.2																			1	Substitution - Missense(1)		lung(1)		0						c.(97-99)GCG>GAG		kelch-like 1 protein							24.0	30.0	28.0					13																	70681734		2188	4275	6463	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70681734G>T	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.98C>A	13.37:g.70681734G>T	ENSP00000367075:p.Ala33Glu					KLHL1_uc010thm.1_Missense_Mutation_p.A33E|ATXN8OS_uc010aej.1_RNA	p.A33E	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	1	892	-		Breast(118;0.000162)	33					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.98C>A	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849248	0.51270	.	.	ENSG00000150361	ENST00000377844	T	0.72167	-0.63	5.35	3.62	0.41486	.	0.452720	0.18884	N	0.128485	T	0.55242	0.1908	L	0.44542	1.39	0.80722	D	1	P;P	0.40332	0.543;0.713	B;B	0.32928	0.062;0.155	T	0.45906	-0.9229	10	0.18710	T	0.47	.	9.7774	0.40628	0.1603:0.0:0.8397:0.0	.	33;33	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	E	33	ENSP00000367075:A33E	ENSP00000367075:A33E	A	-	2	0	KLHL1	69579735	0.995000	0.38212	0.971000	0.41717	0.908000	0.53690	1.819000	0.39022	0.648000	0.30732	0.650000	0.86243	GCG		PASS	0.622	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		10	15	10	15	---	---	---	---
ITGBL1	9358	broad.mit.edu	37	13	102367951	102367951	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr13:102367951G>T	ENST00000376180.3	+	11	1651	c.1432G>T	c.(1432-1434)Gat>Tat	p.D478Y	ITGBL1_ENST00000376162.3_Missense_Mutation_p.D385Y|RP11-397O8.7_ENST00000606869.1_lincRNA|ITGBL1_ENST00000545560.2_Missense_Mutation_p.D337Y	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	478	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)		p.D478Y(1)		breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGAATGCTGGGATGGATGGAA	0.368																																						uc001vpb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1432-1434)GAT>TAT		integrin, beta-like 1 (with EGF-like repeat							272.0	264.0	267.0					13																	102367951		2203	4300	6503	SO:0001583	missense	9358				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	g.chr13:102367951G>T	AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"""ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1"""	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.1432G>T	13.37:g.102367951G>T	ENSP00000365351:p.Asp478Tyr					ITGBL1_uc010agb.2_Missense_Mutation_p.D429Y|ITGBL1_uc001vpc.3_Missense_Mutation_p.D337Y	p.D478Y	NM_004791	NP_004782	O95965	ITGBL_HUMAN			11	1651	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		478			X.|Cysteine-rich tandem repeats.		A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Missense_Mutation	SNP	ENST00000376180.3	37	c.1432G>T	CCDS9499.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053338	0.75960	.	.	ENSG00000198542	ENST00000376180;ENST00000537118;ENST00000539955;ENST00000545560;ENST00000376162	D;D;D	0.82711	-1.64;-1.64;-1.64	5.83	4.98	0.66077	EGF, extracellular (1);	0.355792	0.34750	N	0.003706	D	0.87962	0.6310	L	0.46741	1.465	0.54753	D	0.99998	D;D	0.71674	0.989;0.998	P;D	0.65443	0.781;0.935	D	0.89040	0.3448	10	0.66056	D	0.02	.	17.0583	0.86541	0.0:0.127:0.873:0.0	.	337;478	B3KTP1;O95965	.;ITGBL_HUMAN	Y	478;386;337;337;385	ENSP00000365351:D478Y;ENSP00000439903:D337Y;ENSP00000365332:D385Y	ENSP00000365332:D385Y	D	+	1	0	ITGBL1	101165952	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.400000	0.79949	1.454000	0.47793	0.650000	0.86243	GAT		PASS	0.368	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2	NM_004791		68	102	68	102	---	---	---	---
OR4K5	79317	broad.mit.edu	37	14	20389542	20389542	+	Silent	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr14:20389542G>A	ENST00000315915.4	+	1	802	c.777G>A	c.(775-777)gtG>gtA	p.V259V		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V259V(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCATCTATGTGTGGCCCTTTA	0.413																																						uc010tkw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(775-777)GTG>GTA		olfactory receptor, family 4, subfamily K,							218.0	230.0	226.0					14																	20389542		2203	4300	6503	SO:0001819	synonymous_variant	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389542G>A	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.777G>A	14.37:g.20389542G>A							p.V259V	NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	777	+	all_cancers(95;0.00108)		259			Extracellular (Potential).		Q6IFA7	Silent	SNP	ENST00000315915.4	37	c.777G>A	CCDS32024.1																																																																																				PASS	0.413	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		8	467	8	467	---	---	---	---
OR4K14	122740	broad.mit.edu	37	14	20483236	20483236	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr14:20483236C>A	ENST00000305045.2	-	1	116	c.117G>T	c.(115-117)atG>atT	p.M39I		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M39I(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GGTTACCCAGCATAATGGCCA	0.433																																						uc010tky.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)	3						c.(115-117)ATG>ATT		olfactory receptor, family 4, subfamily K,							70.0	66.0	67.0					14																	20483236		2203	4300	6503	SO:0001583	missense	122740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20483236C>A		CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"""GPCR / Class A : Olfactory receptors"""	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.117G>T	14.37:g.20483236C>A	ENSP00000305011:p.Met39Ile						p.M39I	NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	117	-	all_cancers(95;0.00108)		39			Helical; Name=1; (Potential).		Q6IEU1|Q96R71	Missense_Mutation	SNP	ENST00000305045.2	37	c.117G>T	CCDS32027.1	.	.	.	.	.	.	.	.	.	.	.	8.651	0.898296	0.17686	.	.	ENSG00000169484	ENST00000305045	T	0.00360	7.86	4.33	-4.28	0.03732	.	0.165044	0.28093	N	0.016630	T	0.00109	0.0003	N	0.20881	0.62	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47983	-0.9074	10	0.37606	T	0.19	.	0.4761	0.00540	0.2235:0.18:0.2203:0.3763	.	39	Q8NGD5	OR4KE_HUMAN	I	39	ENSP00000305011:M39I	ENSP00000305011:M39I	M	-	3	0	OR4K14	19553076	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-5.454000	0.00121	-1.341000	0.02225	-0.199000	0.12753	ATG		PASS	0.433	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1			19	48	19	48	---	---	---	---
OR11G2	390439	broad.mit.edu	37	14	20665548	20665548	+	Silent	SNP	T	T	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr14:20665548T>C	ENST00000357366.3	+	1	54	c.54T>C	c.(52-54)tgT>tgC	p.C18C		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C18C(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CCCATCTATGTTTGCACCGTC	0.353																																						uc010tlb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(52-54)TGT>TGC		olfactory receptor, family 11, subfamily G,							37.0	36.0	36.0					14																	20665548		2203	4300	6503	SO:0001819	synonymous_variant	390439				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20665548T>C		CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"""GPCR / Class A : Olfactory receptors"""	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.54T>C	14.37:g.20665548T>C							p.C18C	NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	54	+	all_cancers(95;0.00108)		18			Extracellular (Potential).		Q6IF09|Q96R33	Silent	SNP	ENST00000357366.3	37	c.54T>C	CCDS32032.1																																																																																				PASS	0.353	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1			23	38	23	38	---	---	---	---
OR11H6	122748	broad.mit.edu	37	14	20692683	20692683	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr14:20692683C>A	ENST00000315519.2	+	1	893	c.815C>A	c.(814-816)aCc>aAc	p.T272N		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T272N(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TTCTATGGAACCCTTATGGTG	0.473																																						uc010tlc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(814-816)ACC>AAC		olfactory receptor, family 11, subfamily H,							113.0	99.0	104.0					14																	20692683		2203	4300	6503	SO:0001583	missense	122748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20692683C>A		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"""GPCR / Class A : Olfactory receptors"""	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.815C>A	14.37:g.20692683C>A	ENSP00000319071:p.Thr272Asn						p.T272N	NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)	1	815	+	all_cancers(95;0.00108)		272			Helical; Name=6; (Potential).		Q6IF08	Missense_Mutation	SNP	ENST00000315519.2	37	c.815C>A	CCDS32033.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630728	0.67015	.	.	ENSG00000176219	ENST00000315519	T	0.00289	8.28	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.122427	0.36854	N	0.002367	T	0.00608	0.0020	M	0.86420	2.815	0.31793	N	0.629404	P	0.49447	0.924	P	0.52823	0.71	T	0.36578	-0.9742	10	0.66056	D	0.02	.	15.8321	0.78760	0.0:1.0:0.0:0.0	.	272	Q8NGC7	O11H6_HUMAN	N	272	ENSP00000319071:T272N	ENSP00000319071:T272N	T	+	2	0	OR11H6	19762523	0.006000	0.16342	0.980000	0.43619	0.938000	0.57974	2.233000	0.43027	2.592000	0.87571	0.471000	0.43371	ACC		PASS	0.473	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			63	105	63	105	---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23853813	23853813	+	Silent	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr14:23853813C>T	ENST00000356287.3	-	35	5432	c.5403G>A	c.(5401-5403)gaG>gaA	p.E1801E	MYH6_ENST00000405093.3_Silent_p.E1801E			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1801					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.E1801E(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCTGCTCGGCCTCGTCCAGCC	0.632																																						uc001wjv.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(5401-5403)GAG>GAA		myosin heavy chain 6							71.0	71.0	71.0					14																	23853813		2203	4300	6503	SO:0001819	synonymous_variant	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23853813C>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.5403G>A	14.37:g.23853813C>T							p.E1801E	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	36	5470	-	all_cancers(95;2.54e-05)		1801			Potential.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	c.5403G>A	CCDS9600.1																																																																																				PASS	0.632	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			4	95	4	95	---	---	---	---
MYH7	4625	broad.mit.edu	37	14	23884402	23884402	+	Silent	SNP	T	T	C	rs201171029		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr14:23884402T>C	ENST00000355349.3	-	37	5523	c.5361A>G	c.(5359-5361)gaA>gaG	p.E1787E	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1787					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.E1787E(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TAATGGTCTGTTCCATGTTCT	0.622													T|||	1	0.000199681	0.0	0.0014	5008	,	,		20499	0.0		0.0	False		,,,				2504	0.0					uc001wjx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(5359-5361)GAA>GAG		myosin, heavy chain 7, cardiac muscle, beta							101.0	98.0	99.0					14																	23884402		2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23884402T>C	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.5361A>G	14.37:g.23884402T>C							p.E1787E	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	37	5467	-	all_cancers(95;2.54e-05)		1787			Potential.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.5361A>G	CCDS9601.1																																																																																				PASS	0.622	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		46	131	46	131	---	---	---	---
LRRC16B	90668	broad.mit.edu	37	14	24524987	24524987	+	Silent	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr14:24524987C>T	ENST00000342740.5	+	10	913	c.759C>T	c.(757-759)gcC>gcT	p.A253A	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	253						cytoplasm (GO:0005737)		p.A253A(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TGGACAACGCCGGGCTTAAGA	0.572																																						uc001wlj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(757-759)GCC>GCT		leucine rich repeat containing 16B							85.0	83.0	84.0					14																	24524987		2203	4300	6503	SO:0001819	synonymous_variant	90668							g.chr14:24524987C>T	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.759C>T	14.37:g.24524987C>T							p.A253A	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	10	916	+			253			LRR 1.		Q8TEF7|Q96HS9	Silent	SNP	ENST00000342740.5	37	c.759C>T	CCDS32054.1																																																																																				PASS	0.572	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		40	61	40	61	---	---	---	---
STRN3	29966	broad.mit.edu	37	14	31381003	31381003	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr14:31381003G>C	ENST00000357479.5	-	12	1774	c.1578C>G	c.(1576-1578)atC>atG	p.I526M	STRN3_ENST00000355683.5_Missense_Mutation_p.I442M|STRN3_ENST00000366206.2_5'Flank	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	526					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I442M(1)|p.I526M(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TAAATGTGTAGATAGGCTCTA	0.333																																						uc001wqu.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1576-1578)ATC>ATG		nuclear autoantigen isoform 1							50.0	51.0	50.0					14																	31381003		2203	4300	6503	SO:0001583	missense	29966				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	g.chr14:31381003G>C		CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"""WD repeat domain containing"""	15720	protein-coding gene	gene with protein product	"""cell cycle S/G2 nuclear autoantigen"""	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.1578C>G	14.37:g.31381003G>C	ENSP00000350071:p.Ile526Met					STRN3_uc001wqv.2_Missense_Mutation_p.I442M|STRN3_uc010tpj.1_RNA	p.I526M	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)	12	1794	-	Hepatocellular(127;0.0877)|Breast(36;0.148)		526					A2RTX7|A6NHZ7|Q9NRA5	Missense_Mutation	SNP	ENST00000357479.5	37	c.1578C>G	CCDS41938.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153737	0.78114	.	.	ENSG00000196792	ENST00000355683;ENST00000357479	T;T	0.61158	0.13;0.13	5.36	5.36	0.76844	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.092770	0.64402	D	0.000001	T	0.70850	0.3271	L	0.52905	1.665	0.80722	D	1	P;D	0.53462	0.942;0.96	P;P	0.59424	0.62;0.857	T	0.72659	-0.4226	10	0.72032	D	0.01	-14.8911	19.4536	0.94878	0.0:0.0:1.0:0.0	.	442;526	Q13033-2;Q13033	.;STRN3_HUMAN	M	442;526	ENSP00000347909:I442M;ENSP00000350071:I526M	ENSP00000347909:I442M	I	-	3	3	STRN3	30450754	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.425000	0.66470	2.648000	0.89879	0.655000	0.94253	ATC		PASS	0.333	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		13	56	13	56	---	---	---	---
HECTD1	25831	broad.mit.edu	37	14	31609180	31609180	+	Missense_Mutation	SNP	C	C	T	rs376639276		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr14:31609180C>T	ENST00000399332.1	-	19	3385	c.2897G>A	c.(2896-2898)cGa>cAa	p.R966Q	HECTD1_ENST00000553700.1_Missense_Mutation_p.R966Q|RNU6-541P_ENST00000384709.1_RNA	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	966					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.A963_V971delALIRKLIAV(1)|p.R966Q(1)		breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TATTAACTTTCGAATTAACGC	0.338																																						uc001wrc.1																			2	Substitution - Missense(1)|Deletion - In frame(1)		lung(1)|breast(1)	ovary(3)|large_intestine(1)|lung(1)	5						c.(2896-2898)CGA>CAA		HECT domain containing 1		C	GLN/ARG	1,3645		0,1,1822	136.0	126.0	129.0		2897	5.0	1.0	14		129	0,8180		0,0,4090	no	missense	HECTD1	NM_015382.2	43	0,1,5912	TT,TC,CC		0.0,0.0274,0.0085	possibly-damaging	966/2611	31609180	1,11825	1823	4090	5913	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31609180C>T	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.2897G>A	14.37:g.31609180C>T	ENSP00000382269:p.Arg966Gln					HECTD1_uc001wrd.1_Missense_Mutation_p.R481Q	p.R966Q	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	19	3386	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		966					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.2897G>A	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984266	0.53827	2.74E-4	0.0	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	T;T;T	0.38401	1.14;1.14;1.57	5.89	5.01	0.66863	Armadillo-type fold (1);	0.000000	0.64402	U	0.000005	T	0.12518	0.0304	N	0.01482	-0.84	0.80722	D	1	B;B	0.32731	0.307;0.382	B;B	0.22601	0.015;0.04	T	0.17198	-1.0377	10	0.09084	T	0.74	-5.526	14.9607	0.71156	0.0:0.9319:0.0:0.0681	.	966;966	D3DS86;Q9ULT8	.;HECD1_HUMAN	Q	966;968;966;440	ENSP00000450697:R966Q;ENSP00000382269:R966Q;ENSP00000451860:R440Q	ENSP00000261312:R968Q	R	-	2	0	HECTD1	30678931	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.599000	0.82757	1.506000	0.48736	0.655000	0.94253	CGA		PASS	0.338	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			3	79	3	79	---	---	---	---
VRTN	55237	broad.mit.edu	37	14	74824956	74824956	+	Silent	SNP	C	C	T	rs45500395	byFrequency	TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr14:74824956C>T	ENST00000256362.4	+	2	1711	c.1470C>T	c.(1468-1470)gaC>gaT	p.D490D		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	490					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)	p.D490D(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CAGGTGAGGACCCTCCCGCCC	0.662																																						uc001xpw.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1468-1470)GAC>GAT		hypothetical protein LOC55237							32.0	38.0	36.0					14																	74824956		2202	4299	6501	SO:0001819	synonymous_variant	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74824956C>T	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1470C>T	14.37:g.74824956C>T							p.D490D	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00147)	2	1661	+			490					Q9NVC7	Silent	SNP	ENST00000256362.4	37	c.1470C>T	CCDS9830.1																																																																																				PASS	0.662	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		31	29	31	29	---	---	---	---
DIO2	1734	broad.mit.edu	37	14	80677661	80677661	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr14:80677661C>A	ENST00000557010.1	-	3	540	c.155G>T	c.(154-156)cGg>cTg	p.R52L	DIO2_ENST00000555750.1_Missense_Mutation_p.R52L|DIO2-AS1_ENST00000553979.1_RNA|DIO2_ENST00000557125.1_Intron|DIO2_ENST00000422005.3_Missense_Mutation_p.R52L|DIO2_ENST00000438257.4_Missense_Mutation_p.R52L	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	52					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)	p.R52L(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		CAGCATGCGCCGCCACTCTCC	0.587																																						uc010tvq.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(154-156)CGG>CTG		deiodinase, iodothyronine, type II isoform a							34.0	37.0	36.0					14																	80677661		2049	4189	6238	SO:0001583	missense	1734				hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	g.chr14:80677661C>A	AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"""thyroxine deiodinase, type II"", ""deiodonase-2"", ""deiodinase-2"""	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557010.1:c.155G>T	14.37:g.80677661C>A	ENSP00000451419:p.Arg52Leu					uc001xuw.1_5'Flank|DIO2_uc010tvp.1_Missense_Mutation_p.R52L|DIO2_uc001xut.2_RNA|DIO2_uc010asx.2_Missense_Mutation_p.R52L|DIO2_uc010tvr.1_Missense_Mutation_p.R52L|DIO2_uc010asy.2_Missense_Mutation_p.R52L	p.R52L	NM_000793	NP_000784	Q92813	IOD2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0281)	2	557	-			52					B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Missense_Mutation	SNP	ENST00000557010.1	37	c.155G>T	CCDS45146.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154289	0.78114	.	.	ENSG00000211448	ENST00000438257;ENST00000557010;ENST00000422005;ENST00000555750;ENST00000388838;ENST00000554188	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000004	T	0.58452	0.2123	M	0.72118	2.19	0.40504	D	0.980675	P;D;D;D	0.76494	0.946;0.999;0.98;0.999	P;D;P;D	0.85130	0.619;0.997;0.796;0.982	T	0.60984	-0.7154	10	0.87932	D	0	.	19.8407	0.96681	0.0:1.0:0.0:0.0	.	52;52;52;52	Q92813-2;Q92813;G3V315;A8K845	.;IOD2_HUMAN;.;.	L	52	ENSP00000405854:R52L;ENSP00000451419:R52L;ENSP00000411438:R52L;ENSP00000450980:R52L;ENSP00000451136:R52L	ENSP00000373490:R52L	R	-	2	0	DIO2	79747414	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.586000	0.53950	2.677000	0.91161	0.650000	0.86243	CGG		PASS	0.587	DIO2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000413428.2			15	7	15	7	---	---	---	---
EML5	161436	broad.mit.edu	37	14	89163203	89163203	+	Missense_Mutation	SNP	C	C	A	rs371341490		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr14:89163203C>A	ENST00000380664.5	-	15	2331	c.2332G>T	c.(2332-2334)Gtt>Ttt	p.V778F	EML5_ENST00000554922.1_Missense_Mutation_p.V778F|EML5_ENST00000352093.5_Missense_Mutation_p.V778F			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	778						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)	p.V778F(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GAGAAATCAACGGCACTAACA	0.393																																						uc001xxg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2332-2334)GTT>TTT		echinoderm microtubule associated protein like							70.0	72.0	71.0					14																	89163203		1895	4116	6011	SO:0001583	missense	161436					cytoplasm|microtubule		g.chr14:89163203C>A	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.2332G>T	14.37:g.89163203C>A	ENSP00000370039:p.Val778Phe					EML5_uc001xxh.1_5'UTR	p.V778F	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN			16	2518	-			778			WD 12.		B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	c.2332G>T	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863629	0.51482	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.66280	-0.2;-0.2;-0.2	5.28	3.49	0.39957	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.176326	0.38326	N	0.001740	T	0.65333	0.2681	M	0.75615	2.305	0.46185	D	0.998914	B	0.23058	0.079	B	0.33846	0.171	T	0.66333	-0.5950	10	0.87932	D	0	-24.6198	11.8999	0.52678	0.0:0.8574:0.0:0.1426	.	778	Q05BV3	EMAL5_HUMAN	F	778	ENSP00000451998:V778F;ENSP00000298315:V778F;ENSP00000370039:V778F	ENSP00000298315:V778F	V	-	1	0	EML5	88232956	1.000000	0.71417	1.000000	0.80357	0.612000	0.37316	1.440000	0.35024	0.827000	0.34685	-0.751000	0.03497	GTT		PASS	0.393	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			12	20	12	20	---	---	---	---
CATSPERB	79820	broad.mit.edu	37	14	92139233	92139233	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr14:92139233C>A	ENST00000256343.3	-	13	1262	c.1106G>T	c.(1105-1107)gGa>gTa	p.G369V		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	369					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)		p.G369V(1)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				GAGGTAAACTCCAGTACCACG	0.353																																						uc001xzs.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|skin(2)|ovary(1)	5						c.(1105-1107)GGA>GTA		cation channel, sperm-associated, beta							116.0	124.0	121.0					14																	92139233		2203	4300	6503	SO:0001583	missense	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92139233C>A	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.1106G>T	14.37:g.92139233C>A	ENSP00000256343:p.Gly369Val					CATSPERB_uc010aub.1_5'Flank	p.G369V	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN			13	1246	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	369					A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	c.1106G>T	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040354	0.35989	.	.	ENSG00000133962	ENST00000256343	T	0.53423	0.62	5.55	3.59	0.41128	.	0.276025	0.25506	N	0.030217	T	0.52917	0.1764	L	0.38838	1.175	0.22366	N	0.999169	D	0.62365	0.991	P	0.60886	0.88	T	0.44757	-0.9307	10	0.35671	T	0.21	-14.3351	13.3768	0.60743	0.0:0.679:0.321:0.0	.	369	Q9H7T0	CTSRB_HUMAN	V	369	ENSP00000256343:G369V	ENSP00000256343:G369V	G	-	2	0	CATSPERB	91208986	0.045000	0.20229	0.039000	0.18376	0.007000	0.05969	0.617000	0.24359	1.316000	0.45131	0.563000	0.77884	GGA		PASS	0.353	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		96	128	96	128	---	---	---	---
CATSPERB	79820	broad.mit.edu	37	14	92185772	92185772	+	Silent	SNP	T	T	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr14:92185772T>A	ENST00000256343.3	-	5	516	c.360A>T	c.(358-360)acA>acT	p.T120T		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	120					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)		p.T120T(1)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CTGTGCTTTGTGTGATGTTTT	0.303																																						uc001xzs.1																			1	Substitution - coding silent(1)		lung(1)	breast(2)|skin(2)|ovary(1)	5						c.(358-360)ACA>ACT		cation channel, sperm-associated, beta							83.0	72.0	76.0					14																	92185772		2202	4298	6500	SO:0001819	synonymous_variant	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92185772T>A	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.360A>T	14.37:g.92185772T>A							p.T120T	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN			5	500	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	120					A0AV51	Silent	SNP	ENST00000256343.3	37	c.360A>T	CCDS32142.1																																																																																				PASS	0.303	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		32	50	32	50	---	---	---	---
RIN3	79890	broad.mit.edu	37	14	93107667	93107667	+	Silent	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr14:93107667G>T	ENST00000216487.7	+	5	684	c.525G>T	c.(523-525)ctG>ctT	p.L175L	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	175					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.L175L(1)		endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				TCGCCAACCTGGGTCTGGGTG	0.637																																						uc001yap.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(1)	3						c.(523-525)CTG>CTT		Ras and Rab interactor 3							91.0	77.0	82.0					14																	93107667		2203	4300	6503	SO:0001819	synonymous_variant	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93107667G>T	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.525G>T	14.37:g.93107667G>T						RIN3_uc010auk.2_5'UTR|RIN3_uc001yaq.2_Silent_p.L100L	p.L175L	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN			5	677	+		all_cancers(154;0.0701)	175					Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Silent	SNP	ENST00000216487.7	37	c.525G>T	CCDS32144.1																																																																																				PASS	0.637	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			30	28	30	28	---	---	---	---
MARK3	4140	broad.mit.edu	37	14	103931944	103931944	+	Silent	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr14:103931944C>T	ENST00000429436.2	+	8	1101	c.591C>T	c.(589-591)ttC>ttT	p.F197F	MARK3_ENST00000216288.7_Silent_p.F197F|MARK3_ENST00000561071.1_Intron|MARK3_ENST00000335102.5_Silent_p.F220F|MARK3_ENST00000303622.9_Silent_p.F197F|MARK3_ENST00000440884.3_Intron|MARK3_ENST00000416682.2_Silent_p.F220F|MARK3_ENST00000553942.1_Silent_p.F197F	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	197	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.F197F(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			TAGCAGATTTCGGTTTTAGCA	0.388																																						uc001ymz.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)|stomach(1)	4						c.(589-591)TTC>TTT		MAP/microtubule affinity-regulating kinase 3							81.0	80.0	80.0					14																	103931944		1887	4125	6012	SO:0001819	synonymous_variant	4140						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr14:103931944C>T	M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.591C>T	14.37:g.103931944C>T						MARK3_uc001ymx.3_Silent_p.F197F|MARK3_uc001ymw.3_Silent_p.F197F|MARK3_uc001yna.3_Silent_p.F197F|MARK3_uc001ymy.3_Intron|MARK3_uc010awp.2_Silent_p.F220F|MARK3_uc010tyb.1_Silent_p.F8F	p.F197F	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	Epithelial(46;0.241)		8	1257	+		Melanoma(154;0.155)	197			Protein kinase.		O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Silent	SNP	ENST00000429436.2	37	c.591C>T	CCDS45165.1																																																																																				PASS	0.388	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	NM_001128918		19	116	19	116	---	---	---	---
TUBGCP5	114791	broad.mit.edu	37	15	22841050	22841050	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr15:22841050G>T	ENST00000283645.4	+	5	548	c.418G>T	c.(418-420)Gat>Tat	p.D140Y	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.D140Y	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	140					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)	p.D140Y(1)		breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		AAAGAAAGATGATTTCGACTG	0.328																																						uc001yur.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(418-420)GAT>TAT		tubulin, gamma complex associated protein 5							71.0	69.0	70.0					15																	22841050		2203	4300	6503	SO:0001583	missense	114791				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr15:22841050G>T	AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.418G>T	15.37:g.22841050G>T	ENSP00000283645:p.Asp140Tyr					TUBGCP5_uc001yuq.2_Missense_Mutation_p.D140Y	p.D140Y	NM_052903	NP_443135	Q96RT8	GCP5_HUMAN		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)	5	548	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	140					E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP	ENST00000283645.4	37	c.418G>T	CCDS10008.1	.	.	.	.	.	.	.	.	.	.	.	13.84	2.357477	0.41801	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.25414	1.81;1.8	5.63	5.63	0.86233	.	0.414851	0.28946	N	0.013634	T	0.23370	0.0565	L	0.50333	1.59	0.30958	N	0.723994	B;B	0.31859	0.343;0.343	B;B	0.27608	0.081;0.05	T	0.23762	-1.0179	10	0.62326	D	0.03	-20.4036	10.758	0.46247	0.0705:0.1314:0.798:0.0	.	140;140	Q96RT8;E9PB12	GCP5_HUMAN;.	Y	140	ENSP00000283645:D140Y;ENSP00000409217:D140Y	ENSP00000283645:D140Y	D	+	1	0	TUBGCP5	20392491	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.284000	0.43478	2.815000	0.96918	0.561000	0.74099	GAT		PASS	0.328	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903		17	31	17	31	---	---	---	---
NPAP1	23742	broad.mit.edu	37	15	24922681	24922681	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr15:24922681C>A	ENST00000329468.2	+	1	2141	c.1667C>A	c.(1666-1668)aCt>aAt	p.T556N		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	556					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.T556N(1)									GTCATTTCCACTGTCACAACA	0.493																																						uc001ywo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(1666-1668)ACT>AAT		hypothetical protein LOC23742							166.0	154.0	158.0					15																	24922681		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24922681C>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1667C>A	15.37:g.24922681C>A	ENSP00000333735:p.Thr556Asn						p.T556N	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	2141	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	556						Missense_Mutation	SNP	ENST00000329468.2	37	c.1667C>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	12.74	2.028306	0.35797	.	.	ENSG00000185823	ENST00000329468	T	0.10763	2.84	1.82	1.82	0.25136	.	0.427110	0.17421	N	0.174837	T	0.17066	0.0410	L	0.42245	1.32	0.09310	N	1	D	0.71674	0.998	P	0.61328	0.887	T	0.05084	-1.0907	10	0.35671	T	0.21	.	7.1356	0.25527	0.0:1.0:0.0:0.0	.	556	Q9NZP6	CO002_HUMAN	N	556	ENSP00000333735:T556N	ENSP00000333735:T556N	T	+	2	0	C15orf2	22473774	0.010000	0.17322	0.002000	0.10522	0.093000	0.18481	1.266000	0.33039	1.331000	0.45412	0.205000	0.17691	ACT		PASS	0.493	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		53	77	53	77	---	---	---	---
ATP10A	57194	broad.mit.edu	37	15	25924963	25924963	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr15:25924963C>A	ENST00000356865.6	-	21	4136	c.4025G>T	c.(4024-4026)aGg>aTg	p.R1342M		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1342					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R1342M(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CTTGACTGTCCTCCCTGATGA	0.627																																						uc010ayu.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(4024-4026)AGG>ATG		ATPase, class V, type 10A							73.0	70.0	71.0					15																	25924963		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25924963C>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.4025G>T	15.37:g.25924963C>A	ENSP00000349325:p.Arg1342Met						p.R1342M	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	21	4131	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	1342			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.4025G>T	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.394330	0.42410	.	.	ENSG00000206190	ENST00000356865	T	0.40476	1.03	5.78	-5.95	0.02241	.	1.666710	0.03086	N	0.159076	T	0.24586	0.0596	N	0.24115	0.695	0.09310	N	1	P	0.44578	0.838	B	0.40659	0.336	T	0.31081	-0.9956	10	0.59425	D	0.04	-0.2071	1.8896	0.03245	0.2343:0.1629:0.1153:0.4874	.	1342	O60312	AT10A_HUMAN	M	1342	ENSP00000349325:R1342M	ENSP00000349325:R1342M	R	-	2	0	ATP10A	23476056	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.131000	0.10482	-0.718000	0.04949	-0.145000	0.13849	AGG		PASS	0.627	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		40	70	40	70	---	---	---	---
APBA2	321	broad.mit.edu	37	15	29346393	29346393	+	Silent	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr15:29346393C>T	ENST00000558402.1	+	5	905	c.306C>T	c.(304-306)cgC>cgT	p.R102R	APBA2_ENST00000411764.1_Silent_p.R102R|APBA2_ENST00000558330.1_Silent_p.R102R|APBA2_ENST00000558259.1_Silent_p.R102R|APBA2_ENST00000561069.1_Silent_p.R102R			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	102					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)	p.R102R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		ACTACATCCGCTACTGCCCTG	0.597																																						uc001zck.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(304-306)CGC>CGT		amyloid beta A4 precursor protein-binding,							149.0	128.0	135.0					15																	29346393		2203	4300	6503	SO:0001819	synonymous_variant	321				nervous system development|protein transport		protein binding	g.chr15:29346393C>T	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.306C>T	15.37:g.29346393C>T						APBA2_uc010azj.2_Silent_p.R102R|APBA2_uc010uat.1_Silent_p.R102R|APBA2_uc001zcl.2_Silent_p.R102R|APBA2_uc010uas.1_Silent_p.R102R	p.R102R	NM_005503	NP_005494	Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	3	513	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	102					E9PGI4|O60571|Q5XKC0	Silent	SNP	ENST00000558402.1	37	c.306C>T	CCDS10022.1																																																																																				PASS	0.597	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		54	57	54	57	---	---	---	---
SCG5	6447	broad.mit.edu	37	15	32935913	32935913	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr15:32935913C>G	ENST00000300175.4	+	2	230	c.120C>G	c.(118-120)atC>atG	p.I40M	SCG5_ENST00000497208.1_Missense_Mutation_p.I40M|SCG5_ENST00000494364.1_Missense_Mutation_p.I40M|SCG5_ENST00000413748.2_Missense_Mutation_p.I40M	NM_001144757.1	NP_001138229.1	P05408	7B2_HUMAN	secretogranin V (7B2 protein)	40					intracellular protein transport (GO:0006886)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|regulation of hormone secretion (GO:0046883)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	enzyme inhibitor activity (GO:0004857)|GTP binding (GO:0005525)|unfolded protein binding (GO:0051082)	p.I40M(1)		lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	6		all_lung(180;7.32e-08)		all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212)		AAGCAGATATCCAGAGGCTGC	0.562																																						uc001zha.2																			1	Substitution - Missense(1)		lung(1)		0						c.(118-120)ATC>ATG		secretogranin V isoform 1							82.0	78.0	79.0					15																	32935913		1874	4113	5987	SO:0001583	missense	6447				intracellular protein transport|neuropeptide signaling pathway|peptide hormone processing|regulation of hormone secretion	extracellular region|stored secretory granule	enzyme inhibitor activity|GTP binding|unfolded protein binding	g.chr15:32935913C>G	Y00757	CCDS45207.1, CCDS45208.1	15q13-q14	2006-03-20	2006-03-20	2006-03-20	ENSG00000166922	ENSG00000166922			10816	protein-coding gene	gene with protein product	"""prohormone convertase chaperone"""	173120	"""secretory granule, neuroendocrine protein 1 (7B2 protein)"""	SGNE1		8162254, 12646671	Standard	NM_003020		Approved	7B2, SgV	uc001zha.2	P05408	OTTHUMG00000159447	ENST00000300175.4:c.120C>G	15.37:g.32935913C>G	ENSP00000300175:p.Ile40Met					SCG5_uc001zgz.2_Missense_Mutation_p.I40M	p.I40M	NM_001144757	NP_001138229	P05408	7B2_HUMAN		all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212)	2	237	+		all_lung(180;7.32e-08)	40					P01164|Q6FHD0|Q9BS38	Missense_Mutation	SNP	ENST00000300175.4	37	c.120C>G	CCDS45207.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.122123	0.56613	.	.	ENSG00000166922	ENST00000300175;ENST00000413748;ENST00000494364;ENST00000497208;ENST00000471027	.	.	.	5.78	3.53	0.40419	.	0.089281	0.85682	D	0.000000	T	0.68924	0.3054	M	0.72118	2.19	0.51482	D	0.999927	D;D	0.62365	0.991;0.991	D;D	0.64877	0.93;0.93	T	0.70795	-0.4775	9	0.72032	D	0.01	-4.9859	7.847	0.29431	0.0:0.6956:0.175:0.1294	.	40;40	P05408;Q6FHD0	7B2_HUMAN;.	M	40;40;40;40;30	.	ENSP00000300175:I40M	I	+	3	3	SCG5	30723205	0.835000	0.29415	1.000000	0.80357	0.858000	0.48976	-0.054000	0.11826	1.407000	0.46875	0.655000	0.94253	ATC		PASS	0.562	SCG5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355438.1	NM_003020		48	65	48	65	---	---	---	---
GJD2	57369	broad.mit.edu	37	15	35044940	35044940	+	Silent	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr15:35044940G>T	ENST00000290374.4	-	2	1181	c.705C>A	c.(703-705)ccC>ccA	p.P235P	RP11-814P5.1_ENST00000503496.1_RNA|RP11-814P5.1_ENST00000558707.1_RNA	NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	235					action potential (GO:0001508)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)	p.P235P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		CCTTGATGCAGGGGTAGCGGT	0.478																																						uc001zis.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(703-705)CCC>CCA		gap junction protein, delta 2, 36kDa							113.0	89.0	97.0					15																	35044940		2201	4298	6499	SO:0001819	synonymous_variant	57369				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr15:35044940G>T	AB037509	CCDS10040.1	15q13.1	2008-02-04	2007-11-06	2007-11-06	ENSG00000159248	ENSG00000159248		"""Ion channels / Gap junction proteins (connexins)"""	19154	protein-coding gene	gene with protein product	"""connexin 36"""	607058	"""gap junction protein, alpha 9, 36kDa"""	GJA9		10462698	Standard	NM_020660		Approved	CX36	uc001zis.2	Q9UKL4	OTTHUMG00000129674	ENST00000290374.4:c.705C>A	15.37:g.35044940G>T						uc001zit.1_5'Flank	p.P235P	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)	2	705	-		all_lung(180;9.67e-07)	235			Extracellular (Potential).		Q2M241|Q9P2R0	Silent	SNP	ENST00000290374.4	37	c.705C>A	CCDS10040.1																																																																																				PASS	0.478	GJD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251875.2			22	35	22	35	---	---	---	---
ITGA11	22801	broad.mit.edu	37	15	68618991	68618991	+	Splice_Site	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr15:68618991C>A	ENST00000315757.7	-	17	2298		c.e17+1		ITGA11_ENST00000423218.2_Splice_Site	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11						cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)	p.?(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						TGCCAGCTTACCAGGACATGG	0.632																																						uc002ari.2																			1	Unknown(1)		lung(1)	kidney(2)|pancreas(1)	3						c.e17+1		integrin, alpha 11 precursor	Tirofiban(DB00775)						36.0	44.0	41.0					15																	68618991		2091	4202	6293	SO:0001630	splice_region_variant	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68618991C>A	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.2211+1G>T	15.37:g.68618991C>A						ITGA11_uc010bib.2_Splice_Site_p.L737_splice	p.L737_splice	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN			17	2298	-								J3KQM2|Q8WYI8|Q9UKQ1	Splice_Site	SNP	ENST00000315757.7	37	c.2211_splice	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979234	0.74360	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4393	0.87561	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITGA11	66406045	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	7.146000	0.77373	2.426000	0.82243	0.561000	0.74099	.		PASS	0.632	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211	Intron	4	9	4	9	---	---	---	---
CORO2B	10391	broad.mit.edu	37	15	69011811	69011811	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr15:69011811G>T	ENST00000566799.1	+	11	1260	c.1231G>T	c.(1231-1233)Gct>Tct	p.A411S	CORO2B_ENST00000543950.1_Missense_Mutation_p.A406S|CORO2B_ENST00000540068.1_Missense_Mutation_p.A406S|CORO2B_ENST00000261861.5_Missense_Mutation_p.A406S			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	411					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)	p.A411S(1)		kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GGTATTTAAGGCTCCCATCAA	0.408																																						uc002arj.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|large_intestine(1)	6						c.(1231-1233)GCT>TCT		coronin, actin binding protein, 2B							131.0	128.0	129.0					15																	69011811		2200	4298	6498	SO:0001583	missense	10391				actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding	g.chr15:69011811G>T	AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"""Coronins"", ""WD repeat domain containing"""	2256	protein-coding gene	gene with protein product	"""clipin C"", ""coronin, actin-binding, 2B"""	605002	"""coronin, actin-binding protein, 2B"""			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.1231G>T	15.37:g.69011811G>T	ENSP00000454783:p.Ala411Ser					CORO2B_uc010bic.2_Missense_Mutation_p.A406S|CORO2B_uc002ark.2_Missense_Mutation_p.A178S	p.A411S	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN			11	1260	+			411					A8K0W3|O94767|Q8TAN1	Missense_Mutation	SNP	ENST00000566799.1	37	c.1231G>T	CCDS10229.2	.	.	.	.	.	.	.	.	.	.	G	13.40	2.227033	0.39399	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.59083	0.29;0.29	5.33	5.33	0.75918	.	0.366291	0.29940	N	0.010816	T	0.51907	0.1702	L	0.44542	1.39	0.58432	D	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.43877	-0.9364	10	0.33141	T	0.24	-10.2917	17.5821	0.87971	0.0:0.0:1.0:0.0	.	411	Q9UQ03	COR2B_HUMAN	S	411;406;406	ENSP00000446250:A406S;ENSP00000443819:A406S	ENSP00000261861:A411S	A	+	1	0	CORO2B	66798865	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.316000	0.96319	2.506000	0.84524	0.462000	0.41574	GCT		PASS	0.408	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006091		52	105	52	105	---	---	---	---
CYP1A2	1544	broad.mit.edu	37	15	75047333	75047333	+	Silent	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr15:75047333G>A	ENST00000343932.4	+	7	1518	c.1455G>A	c.(1453-1455)ccG>ccA	p.P485P		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	485					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.P485P(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	GCGTGCCGCCGGGCGTGAAAG	0.612																																						uc002ayr.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)	4						c.(1453-1455)CCG>CCA		cytochrome P450, family 1, subfamily A,	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)						81.0	67.0	72.0					15																	75047333		2197	4296	6493	SO:0001819	synonymous_variant	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75047333G>A	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.1455G>A	15.37:g.75047333G>A							p.P485P	NM_000761	NP_000752	P05177	CP1A2_HUMAN			7	1519	+			485					Q16754|Q6NWU5|Q9BXX7|Q9UK49	Silent	SNP	ENST00000343932.4	37	c.1455G>A	CCDS32293.1																																																																																				PASS	0.612	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		40	49	40	49	---	---	---	---
CIB2	10518	broad.mit.edu	37	15	78398097	78398097	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr15:78398097C>A	ENST00000258930.3	-	5	854	c.526G>T	c.(526-528)Gcc>Tcc	p.A176S	CIB2_ENST00000539011.1_Missense_Mutation_p.A133S|CIB2_ENST00000560618.1_Missense_Mutation_p.A133S|CIB2_ENST00000557846.1_Missense_Mutation_p.A127S	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	176	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion homeostasis (GO:0055074)|photoreceptor cell maintenance (GO:0045494)	blood microparticle (GO:0072562)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|photoreceptor inner segment (GO:0001917)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)	p.A176S(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						AAGTCAGGGGCCTTGGCAATC	0.627																																						uc002bdb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(526-528)GCC>TCC		DNA-dependent protein kinase catalytic							107.0	93.0	98.0					15																	78398097		2196	4293	6489	SO:0001583	missense	10518						calcium ion binding	g.chr15:78398097C>A	BC047381	CCDS10296.1, CCDS61722.1, CCDS61723.1	15q24	2013-01-10			ENSG00000136425	ENSG00000136425		"""EF-hand domain containing"""	24579	protein-coding gene	gene with protein product		605564	"""deafness, autosomal recessive 48"", ""Usher syndrome 1J (autosomal recessive)"""	DFNB48, USH1J		9931475, 23023331	Standard	NM_006383		Approved	KIP2	uc002bdb.2	O75838	OTTHUMG00000143731	ENST00000258930.3:c.526G>T	15.37:g.78398097C>A	ENSP00000258930:p.Ala176Ser					CIB2_uc002bdc.1_Missense_Mutation_p.A133S|CIB2_uc010ums.1_Missense_Mutation_p.A176S	p.A176S	NM_006383	NP_006374	O75838	CIB2_HUMAN			5	847	-			176			EF-hand 3.		B4DDF0|H0YM71|Q05BT6	Missense_Mutation	SNP	ENST00000258930.3	37	c.526G>T	CCDS10296.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.667661	0.29604	.	.	ENSG00000136425	ENST00000258930;ENST00000539011	T;T	0.66638	-0.22;3.01	5.59	4.59	0.56863	EF-hand-like domain (1);	0.122256	0.56097	D	0.000040	T	0.49167	0.1541	N	0.17723	0.515	0.80722	D	1	P;B	0.35174	0.488;0.18	B;B	0.34385	0.181;0.153	T	0.46952	-0.9154	10	0.08837	T	0.75	-18.8369	16.3237	0.82964	0.1409:0.8591:0.0:0.0	.	176;176	B4DDF0;O75838	.;CIB2_HUMAN	S	176;133	ENSP00000258930:A176S;ENSP00000442459:A133S	ENSP00000258930:A176S	A	-	1	0	CIB2	76185152	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.981000	0.70524	2.641000	0.89580	0.591000	0.81541	GCC		PASS	0.627	CIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289798.1	NM_006383		6	49	6	49	---	---	---	---
TMED3	23423	broad.mit.edu	37	15	79603747	79603747	+	Silent	SNP	C	C	G	rs368410166		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr15:79603747C>G	ENST00000299705.5	+	1	344	c.156C>G	c.(154-156)tcC>tcG	p.S52S	TMED3_ENST00000424155.2_Silent_p.S52S|TMED3_ENST00000536821.1_Silent_p.S52S	NM_007364.2	NP_031390.1	Q9Y3Q3	TMED3_HUMAN	transmembrane emp24 protein transport domain containing 3	52	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				protein transport (GO:0015031)	COPI vesicle coat (GO:0030126)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.S52S(1)		large_intestine(3)|lung(4)|ovary(1)|skin(1)	9						TGAAGTTCTCCCTGGATTACC	0.692																																						uc002beu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(154-156)TCC>TCG		transmembrane emp24 domain containing 3							23.0	23.0	23.0					15																	79603747		2196	4289	6485	SO:0001819	synonymous_variant	23423				protein transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane		g.chr15:79603747C>G	BC022232	CCDS10310.1, CCDS73768.1	15q24-q25	2011-02-09	2005-08-26	2005-01-07	ENSG00000166557	ENSG00000166557			28889	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 22"", ""transmembrane emp24 domain containing 3"""	C15orf22		12975309	Standard	XM_005254263		Approved	p24B	uc002beu.3	Q9Y3Q3	OTTHUMG00000144170	ENST00000299705.5:c.156C>G	15.37:g.79603747C>G						TMED3_uc010unj.1_Silent_p.S52S|TMED3_uc002bev.2_RNA	p.S52S	NM_007364	NP_031390	Q9Y3Q3	TMED3_HUMAN			1	257	+			52			Lumenal (Potential).|GOLD.		A8K069|B4DN05|Q2T9F8	Silent	SNP	ENST00000299705.5	37	c.156C>G	CCDS10310.1																																																																																				PASS	0.692	TMED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291369.1	NM_007364		9	14	9	14	---	---	---	---
TMC3	342125	broad.mit.edu	37	15	81625008	81625008	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr15:81625008A>T	ENST00000359440.5	-	22	3190	c.3055T>A	c.(3055-3057)Ttc>Atc	p.F1019I	TMC3_ENST00000558726.1_Missense_Mutation_p.F1020I|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3									p.F1023I(1)		autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GGGTATTGGAAATTCCGGGAT	0.582																																						uc002bgo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|liver(1)	2						c.(3055-3057)TTC>ATC		transmembrane channel-like 3							40.0	46.0	44.0					15																	81625008		2001	4199	6200	SO:0001583	missense	342125					integral to membrane		g.chr15:81625008A>T	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.3055T>A	15.37:g.81625008A>T	ENSP00000352413:p.Phe1019Ile					TMC3_uc010blr.1_RNA	p.F1019I	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN			22	3055	-			1019			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000359440.5	37	c.3055T>A	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	A	8.452	0.853326	0.17106	.	.	ENSG00000188869	ENST00000359440	T	0.62232	0.04	5.31	-2.48	0.06423	.	0.686533	0.11710	U	0.537033	T	0.44052	0.1275	L	0.48362	1.52	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.41574	-0.9501	10	0.05525	T	0.97	-0.2579	7.5272	0.27662	0.1695:0.5965:0.0676:0.1665	.	1019	Q7Z5M5	TMC3_HUMAN	I	1019	ENSP00000352413:F1019I	ENSP00000352413:F1019I	F	-	1	0	TMC3	79412063	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.401000	0.07232	-0.772000	0.04602	-0.313000	0.08912	TTC		PASS	0.582	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		7	55	7	55	---	---	---	---
IGFALS	3483	broad.mit.edu	37	16	1842028	1842028	+	Silent	SNP	G	G	T	rs141901437		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr16:1842028G>T	ENST00000215539.3	-	2	501	c.391C>A	c.(391-393)Cgg>Agg	p.R131R	IGFALS_ENST00000568221.1_3'UTR|IGFALS_ENST00000415638.3_Silent_p.R169R			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	131					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)	p.R131R(1)		endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						AGCTGGTTCCGCTCCAGGTGC	0.692																																						uc002cmy.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(391-393)CGG>AGG		insulin-like growth factor binding protein, acid							22.0	20.0	21.0					16																	1842028		2185	4293	6478	SO:0001819	synonymous_variant	3483				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding	g.chr16:1842028G>T	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638	ENST00000215539.3:c.391C>A	16.37:g.1842028G>T						IGFALS_uc010uvn.1_Silent_p.R169R|IGFALS_uc010uvo.1_5'UTR	p.R131R	NM_004970	NP_004961	P35858	ALS_HUMAN			2	472	-			131			LRR 3.		B4DZY8|E9PGU3	Silent	SNP	ENST00000215539.3	37	c.391C>A	CCDS10446.1																																																																																				PASS	0.692	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250509.2			8	13	8	13	---	---	---	---
CLDN9	9080	broad.mit.edu	37	16	3063914	3063914	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr16:3063914C>T	ENST00000445369.2	+	1	1458	c.551C>T	c.(550-552)aCg>aTg	p.T184M		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	184					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.T184M(1)		endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						CTCTGCTGCACGTGCCCCCCG	0.721																																						uc010uwo.1																			1	Substitution - Missense(1)		lung(1)		0						c.(550-552)ACG>ATG		claudin 9							18.0	24.0	22.0					16																	3063914		2161	4218	6379	SO:0001583	missense	9080				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr16:3063914C>T	AJ130941	CCDS10487.1	16p13.3	2008-08-01			ENSG00000213937	ENSG00000213937		"""Claudins"""	2051	protein-coding gene	gene with protein product		615799				9441748, 18234789	Standard	NM_020982		Approved		uc010uwo.1	O95484	OTTHUMG00000129000	ENST00000445369.2:c.551C>T	16.37:g.3063914C>T	ENSP00000398017:p.Thr184Met						p.T184M	NM_020982	NP_066192	O95484	CLD9_HUMAN			1	1458	+			184			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000445369.2	37	c.551C>T	CCDS10487.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.321308	0.41096	.	.	ENSG00000213937	ENST00000445369	D	0.83419	-1.72	4.42	4.42	0.53409	.	0.065508	0.64402	D	0.000012	T	0.72285	0.3441	N	0.08118	0	0.80722	D	1	D	0.56968	0.978	P	0.49361	0.608	T	0.76686	-0.2868	10	0.72032	D	0.01	.	9.742	0.40424	0.2062:0.7938:0.0:0.0	.	184	O95484	CLD9_HUMAN	M	184	ENSP00000398017:T184M	ENSP00000398017:T184M	T	+	2	0	CLDN9	3003915	0.004000	0.15560	0.974000	0.42286	0.928000	0.56348	1.221000	0.32503	2.279000	0.76181	0.462000	0.41574	ACG		PASS	0.721	CLDN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250989.1	NM_020982		8	20	8	20	---	---	---	---
IL32	9235	broad.mit.edu	37	16	3119200	3119200	+	Silent	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr16:3119200G>T	ENST00000534507.1	+	6	760	c.549G>T	c.(547-549)ctG>ctT	p.L183L	IL32_ENST00000551513.1_Silent_p.L174L|IL32_ENST00000548246.1_Silent_p.L97L|IL32_ENST00000531965.1_Silent_p.L127L|IL32_ENST00000552664.1_Silent_p.L137L|IL32_ENST00000551122.1_Intron|IL32_ENST00000548476.1_Silent_p.L183L|IL32_ENST00000526464.2_Silent_p.L137L|IL32_ENST00000552936.1_Silent_p.L161L|IL32_ENST00000533097.2_Silent_p.L137L|IL32_ENST00000529550.1_Silent_p.L137L|IL32_ENST00000440815.3_Silent_p.L137L|IL32_ENST00000525643.2_Silent_p.L137L|IL32_ENST00000396890.2_Silent_p.L183L|IL32_ENST00000382213.3_Silent_p.L128L|IL32_ENST00000548652.1_Silent_p.L128L|IL32_ENST00000444393.3_Silent_p.L137L|IL32_ENST00000530538.2_Silent_p.L137L|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000530890.1_Silent_p.L117L|IL32_ENST00000549213.1_Intron|IL32_ENST00000396887.3_Intron|IL32_ENST00000008180.9_Silent_p.L117L|IL32_ENST00000528163.2_Silent_p.L137L|IL32_ENST00000325568.5_Silent_p.L137L|IL32_ENST00000552356.1_Silent_p.L117L|IL32_ENST00000529699.1_Silent_p.L117L			P24001	IL32_HUMAN	interleukin 32	183					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)		p.L137L(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						TGGTGGCCCTGGTCCATGCAG	0.592																																						uc002cto.2																			2	Substitution - coding silent(2)		lung(2)	pancreas(1)	1						c.(547-549)CTG>CTT		interleukin 32 isoform B																																				SO:0001819	synonymous_variant	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119200G>T	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	ENST00000534507.1:c.549G>T	16.37:g.3119200G>T						IL32_uc002ctk.2_Intron|IL32_uc010uwp.1_Silent_p.L117L|IL32_uc010btb.2_Silent_p.L127L|IL32_uc002ctl.2_Silent_p.L137L|IL32_uc002ctm.2_Silent_p.L137L|IL32_uc002ctn.2_Silent_p.L137L|IL32_uc002cts.3_Silent_p.L137L|IL32_uc002ctp.2_Silent_p.L117L|IL32_uc002ctq.2_Silent_p.L183L|IL32_uc002ctr.2_Silent_p.L117L|IL32_uc002ctt.2_Silent_p.L137L|IL32_uc010uwr.1_Silent_p.L97L|IL32_uc002ctu.2_Silent_p.L128L	p.L183L	NM_004221	NP_004212	P24001	IL32_HUMAN			6	760	+			183					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Silent	SNP	ENST00000534507.1	37	c.549G>T																																																																																					PASS	0.592	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		15	69	15	69	---	---	---	---
ZNF75A	7627	broad.mit.edu	37	16	3367431	3367431	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr16:3367431C>G	ENST00000574298.1	+	6	926	c.453C>G	c.(451-453)caC>caG	p.H151Q	ZNF75A_ENST00000498240.2_3'UTR	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H151Q(1)		breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						TGGATCGTCACAAGAAAGATT	0.398																																						uc002cut.3																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(451-453)CAC>CAG		zinc finger protein 75a							68.0	66.0	67.0					16																	3367431		2197	4300	6497	SO:0001583	missense	7627				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:3367431C>G	X91826	CCDS10501.1	16p13.11	2013-01-08			ENSG00000162086	ENSG00000162086		"""Zinc fingers, C2H2-type"", ""-"""	13146	protein-coding gene	gene with protein product		601473				8661144	Standard	NM_153028		Approved	FLJ31529	uc002cut.4	Q96N20	OTTHUMG00000129356	ENST00000574298.1:c.453C>G	16.37:g.3367431C>G	ENSP00000459566:p.His151Gln					ZNF75A_uc002cuv.3_RNA	p.H151Q	NM_153028	NP_694573	Q96N20	ZN75A_HUMAN			6	979	+			151					Q0VDI8|Q92669	Missense_Mutation	SNP	ENST00000574298.1	37	c.453C>G	CCDS10501.1	.	.	.	.	.	.	.	.	.	.	C	8.019	0.759242	0.15846	.	.	ENSG00000162086	ENST00000293995	.	.	.	4.42	0.159	0.14968	.	0.000000	0.47093	D	0.000245	T	0.43144	0.1234	M	0.85197	2.74	0.29670	N	0.842546	B	0.29432	0.244	B	0.19666	0.026	T	0.45116	-0.9283	9	0.72032	D	0.01	.	4.1672	0.10312	0.0:0.4528:0.1675:0.3797	.	151	Q96N20	ZN75A_HUMAN	Q	151	.	ENSP00000293995:H151Q	H	+	3	2	ZNF75A	3307432	0.993000	0.37304	0.997000	0.53966	0.731000	0.41821	0.602000	0.24134	-0.014000	0.14175	-0.259000	0.10710	CAC		PASS	0.398	ZNF75A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251506.2	NM_153028		3	74	3	74	---	---	---	---
ACSM2A	123876	broad.mit.edu	37	16	20471499	20471499	+	Silent	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr16:20471499C>A	ENST00000573854.1	+	2	177	c.63C>A	c.(61-63)cgC>cgA	p.R21R	ACSM2A_ENST00000575558.1_Intron|ACSM2A_ENST00000396104.2_Silent_p.R21R|ACSM2A_ENST00000219054.6_Silent_p.R21R|ACSM2A_ENST00000417235.2_Intron|ACSM2A_ENST00000575690.1_Silent_p.R21R|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000424070.1_Silent_p.R21R	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	21					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.R21R(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TGTCCAGCCGCACTCTCTACA	0.507																																						uc010bwe.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|breast(1)	3						c.(61-63)CGC>CGA		acyl-CoA synthetase medium-chain family member							42.0	44.0	43.0					16																	20471499		2203	4297	6500	SO:0001819	synonymous_variant	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20471499C>A	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.63C>A	16.37:g.20471499C>A						ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Intron|ACSM2A_uc002dhf.3_Silent_p.R21R|ACSM2A_uc002dhg.3_Silent_p.R21R|ACSM2A_uc010vay.1_Intron	p.R21R	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			3	302	+			21					B3KTT9|O75202	Silent	SNP	ENST00000573854.1	37	c.63C>A	CCDS32401.1																																																																																				PASS	0.507	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		26	52	26	52	---	---	---	---
ACSM2B	348158	broad.mit.edu	37	16	20559758	20559758	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr16:20559758G>T	ENST00000329697.6	-	7	1100	c.932C>A	c.(931-933)gCc>gAc	p.A311D	ACSM2B_ENST00000565322.1_Missense_Mutation_p.A232D|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565232.1_Missense_Mutation_p.A311D|ACSM2B_ENST00000567001.1_Missense_Mutation_p.A311D	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	311					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.A311D(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						AACAATAGGGGCACCCATCAT	0.507																																						uc002dhj.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(931-933)GCC>GAC		acyl-CoA synthetase medium-chain family member							169.0	155.0	160.0					16																	20559758		2200	4299	6499	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20559758G>T	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.932C>A	16.37:g.20559758G>T	ENSP00000327453:p.Ala311Asp					ACSM2B_uc002dhk.3_Missense_Mutation_p.A311D|ACSM2B_uc010bwf.1_Missense_Mutation_p.A311D	p.A311D	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			8	1142	-			311					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.932C>A	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.015234	0.54468	.	.	ENSG00000066813	ENST00000329697	T	0.45668	0.89	3.61	3.61	0.41365	AMP-dependent synthetase/ligase (1);	0.150898	0.31092	N	0.008273	T	0.64080	0.2566	M	0.80422	2.495	0.80722	D	1	D;D	0.63046	0.992;0.992	D;D	0.68039	0.955;0.955	T	0.71686	-0.4518	10	0.87932	D	0	-17.689	14.5295	0.67915	0.0:0.0:1.0:0.0	.	311;311	A8K051;Q68CK6	.;ACS2B_HUMAN	D	311	ENSP00000327453:A311D	ENSP00000327453:A311D	A	-	2	0	ACSM2B	20467259	0.999000	0.42202	0.013000	0.15412	0.021000	0.10359	5.953000	0.70290	2.006000	0.58801	0.609000	0.83330	GCC		PASS	0.507	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		33	106	33	106	---	---	---	---
ZKSCAN2	342357	broad.mit.edu	37	16	25255346	25255346	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr16:25255346C>A	ENST00000328086.7	-	6	2544	c.1741G>T	c.(1741-1743)Gcc>Tcc	p.A581S		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	581					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.A581S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TTAATCAGGGCATCCATCTCC	0.527																																						uc002dod.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(1741-1743)GCC>TCC		zinc finger with KRAB and SCAN domains 2							111.0	103.0	106.0					16																	25255346		2197	4300	6497	SO:0001583	missense	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25255346C>A	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.1741G>T	16.37:g.25255346C>A	ENSP00000331626:p.Ala581Ser					ZKSCAN2_uc010vcl.1_Missense_Mutation_p.A377S	p.A581S	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	6	2148	-			581					A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	c.1741G>T	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514877	0.64634	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.44482	0.92	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000008	T	0.63450	0.2512	M	0.76838	2.35	0.34424	D	0.697801	D;D	0.71674	0.998;0.998	D;D	0.83275	0.983;0.996	T	0.67473	-0.5662	10	0.20046	T	0.44	-15.4106	15.214	0.73250	0.0:1.0:0.0:0.0	.	377;581	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	S	581	ENSP00000331626:A581S	ENSP00000331626:A581S	A	-	1	0	ZKSCAN2	25162847	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.599000	0.46231	2.730000	0.93505	0.655000	0.94253	GCC		PASS	0.527	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		40	107	40	107	---	---	---	---
GDPD3	79153	broad.mit.edu	37	16	30119569	30119569	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr16:30119569T>C	ENST00000406256.3	-	9	1161	c.784A>G	c.(784-786)Agt>Ggt	p.S262G	RP11-455F5.4_ENST00000566190.1_RNA	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	262	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)	p.S262G(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						CGGATCAGACTCTTCCTCATG	0.637																																						uc002dwp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(784-786)AGT>GGT		glycerophosphodiester phosphodiesterase domain							71.0	63.0	65.0					16																	30119569		2197	4300	6497	SO:0001583	missense	79153				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr16:30119569T>C	AK026256	CCDS10671.2	16p11.2	2008-02-05			ENSG00000102886	ENSG00000102886			28638	protein-coding gene	gene with protein product							Standard	NM_024307		Approved	MGC4171	uc002dwp.3	Q7L5L3	OTTHUMG00000132106	ENST00000406256.3:c.784A>G	16.37:g.30119569T>C	ENSP00000384363:p.Ser262Gly					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.2_Missense_Mutation_p.S200G	p.S262G	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN			9	863	-			262			GDPD.|Cytoplasmic (Potential).		Q9H652	Missense_Mutation	SNP	ENST00000406256.3	37	c.784A>G	CCDS10671.2	.	.	.	.	.	.	.	.	.	.	T	19.15	3.772412	0.69992	.	.	ENSG00000102886	ENST00000406256;ENST00000360688	T	0.29397	1.57	5.4	5.4	0.78164	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.146321	0.64402	D	0.000009	T	0.31638	0.0803	M	0.61703	1.905	0.39479	D	0.967852	B	0.32939	0.391	B	0.34722	0.188	T	0.12811	-1.0533	10	0.23891	T	0.37	.	11.8261	0.52267	0.0:0.0:0.0:1.0	.	262	Q7L5L3	GDPD3_HUMAN	G	262;200	ENSP00000384363:S262G	ENSP00000353909:S200G	S	-	1	0	GDPD3	30027070	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.169000	0.50809	2.048000	0.60808	0.459000	0.35465	AGT		PASS	0.637	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255144.1	NM_024307		26	60	26	60	---	---	---	---
TBC1D10B	26000	broad.mit.edu	37	16	30369819	30369819	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr16:30369819G>A	ENST00000409939.3	-	9	1953	c.1873C>T	c.(1873-1875)Cgg>Tgg	p.R625W	RP11-347C12.10_ENST00000563252.1_lincRNA	NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	625					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)	p.R350W(1)|p.R625W(1)		endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			AGCTCCCCCCGCGTTTCCCGC	0.652																																						uc002dxu.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1873-1875)CGG>TGG		TBC1 domain family, member 10B							23.0	23.0	23.0					16																	30369819		2197	4298	6495	SO:0001583	missense	26000					cytoplasm	Rab GTPase activator activity	g.chr16:30369819G>A	BC063112	CCDS10676.2	16p11.2	2013-07-09			ENSG00000169221	ENSG00000169221			24510	protein-coding gene	gene with protein product		613620				20404108	Standard	NM_015527		Approved	DKFZP434P1750, Rab27A-GAPbeta, FLJ13130, EPI64B	uc002dxt.3	Q4KMP7	OTTHUMG00000132396	ENST00000409939.3:c.1873C>T	16.37:g.30369819G>A	ENSP00000386538:p.Arg625Trp					TBC1D10B_uc002dxt.2_Missense_Mutation_p.R50W	p.R625W	NM_015527	NP_056342	Q4KMP7	TB10B_HUMAN	Colorectal(24;0.193)		9	1891	-			625					B9A6L0|Q6IN54|Q6P530|Q71RG7|Q86VC5|Q9H8Z2|Q9NUN6|Q9UFP2	Missense_Mutation	SNP	ENST00000409939.3	37	c.1873C>T	CCDS10676.2	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740601	0.69304	.	.	ENSG00000169221	ENST00000409939	D	0.97303	-4.33	4.62	3.64	0.41730	.	0.000000	0.64402	D	0.000001	D	0.97359	0.9136	L	0.54323	1.7	0.50313	D	0.999862	D	0.76494	0.999	D	0.66351	0.943	D	0.97603	1.0124	10	0.87932	D	0	.	12.899	0.58115	0.0:0.0:0.8301:0.1699	.	625	Q4KMP7	TB10B_HUMAN	W	625	ENSP00000386538:R625W	ENSP00000386538:R625W	R	-	1	2	TBC1D10B	30277320	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.122000	0.57910	1.236000	0.43740	0.491000	0.48974	CGG		PASS	0.652	TBC1D10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255527.3	NM_015527		5	4	5	4	---	---	---	---
FANCA	2175	broad.mit.edu	37	16	89882355	89882355	+	Missense_Mutation	SNP	G	G	T	rs563060518		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr16:89882355G>T	ENST00000389301.3	-	2	149	c.119C>A	c.(118-120)gCa>gAa	p.A40E	FANCA_ENST00000563673.1_Missense_Mutation_p.A40E|FANCA_ENST00000534992.1_Missense_Mutation_p.A40E|FANCA_ENST00000568369.1_Missense_Mutation_p.A40E|FANCA_ENST00000389302.3_Missense_Mutation_p.A40E|FANCA_ENST00000543736.1_Missense_Mutation_p.A40E	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	40					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.A40E(1)		breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TAATTTCTGTGCCCTTTCAGG	0.542			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc002fou.1			yes	Rec		Fanconi anaemia A	16	16q24.3	2175	D|Mis|N|F|S	"""Fanconi anemia, complementation group A"""			L		AML|leukemia			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						c.(118-120)GCA>GAA	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group A isoform							133.0	120.0	124.0					16																	89882355		2198	4300	6498	SO:0001583	missense	2175	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89882355G>T	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.119C>A	16.37:g.89882355G>T	ENSP00000373952:p.Ala40Glu					FANCA_uc010vpn.1_Missense_Mutation_p.A40E|FANCA_uc002fov.1_Missense_Mutation_p.A23E|FANCA_uc002fow.1_Missense_Mutation_p.A40E|FANCA_uc002fox.1_Missense_Mutation_p.A40E|FANCA_uc010ciu.1_Missense_Mutation_p.A40E|FANCA_uc002foy.2_Missense_Mutation_p.A40E	p.A40E	NM_000135	NP_000126	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	2	161	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	40					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	c.119C>A	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	G	5.386	0.256493	0.10185	.	.	ENSG00000187741	ENST00000389301;ENST00000389302;ENST00000534992;ENST00000543736	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.47	-8.18	0.01053	.	1.681620	0.03559	N	0.226755	T	0.13030	0.0316	N	0.01705	-0.755	0.09310	N	1	B;B;B;B;B;B	0.06786	0.0;0.001;0.001;0.0;0.0;0.0	B;B;B;B;B;B	0.06405	0.001;0.002;0.002;0.001;0.001;0.0	T	0.32824	-0.9892	10	0.02654	T	1	-0.0145	8.6281	0.33901	0.0:0.4232:0.3446:0.2322	.	40;40;40;40;40;40	B4DRI7;Q0VAP4;A0PJU8;F5H8D5;O15360-2;O15360	.;.;.;.;.;FANCA_HUMAN	E	40	ENSP00000373952:A40E;ENSP00000373953:A40E;ENSP00000443675:A40E;ENSP00000443409:A40E	ENSP00000373952:A40E	A	-	2	0	FANCA	88409856	0.000000	0.05858	0.000000	0.03702	0.202000	0.24057	-1.349000	0.02627	-1.838000	0.01187	-0.278000	0.10074	GCA		PASS	0.542	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			7	113	7	113	---	---	---	---
TRPV3	162514	broad.mit.edu	37	17	3417929	3417929	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr17:3417929C>T	ENST00000576742.1	-	17	2557	c.2236G>A	c.(2236-2238)Gtc>Atc	p.V746I	TRPV3_ENST00000572519.1_Missense_Mutation_p.V746I|TRPV3_ENST00000301365.4_Missense_Mutation_p.V746I|SPATA22_ENST00000541913.1_5'Flank	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	746					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)	p.V746I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	AGGAAGGAGACGTGCGTCTTC	0.488																																						uc002fvt.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(2236-2238)GTC>ATC		transient receptor potential cation channel,	Menthol(DB00825)						214.0	155.0	175.0					17																	3417929		2203	4300	6503	SO:0001583	missense	162514					integral to membrane	calcium channel activity	g.chr17:3417929C>T	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.2236G>A	17.37:g.3417929C>T	ENSP00000461518:p.Val746Ile					SPATA22_uc010vrg.1_5'Flank|TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Missense_Mutation_p.V730I|TRPV3_uc010vri.1_Missense_Mutation_p.V701I|TRPV3_uc010vrj.1_Missense_Mutation_p.V730I|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Missense_Mutation_p.V730I|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Missense_Mutation_p.V746I|TRPV3_uc002fvu.2_Missense_Mutation_p.V746I	p.V746I	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN			17	2558	-			746			Cytoplasmic (Potential).		Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	ENST00000576742.1	37	c.2236G>A	CCDS11029.1	.	.	.	.	.	.	.	.	.	.	c	16.58	3.162522	0.57368	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	D	0.87650	-2.28	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000002	D	0.89305	0.6677	N	0.21373	0.66	0.37710	D	0.924533	D;P;D;P;D;D;D	0.76494	0.989;0.644;0.999;0.644;0.989;0.999;0.999	P;B;D;B;P;D;D	0.78314	0.642;0.18;0.979;0.18;0.558;0.979;0.991	D	0.90326	0.4348	10	0.45353	T	0.12	-22.778	18.7989	0.92008	0.0:1.0:0.0:0.0	.	730;730;746;730;746;746;746	E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;TRPV3_HUMAN;.	I	746;746;730	ENSP00000301365:V746I	ENSP00000301365:V746I	V	-	1	0	TRPV3	3364679	1.000000	0.71417	0.978000	0.43139	0.747000	0.42532	4.245000	0.58734	2.769000	0.95229	0.563000	0.77884	GTC		PASS	0.488	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		16	22	16	22	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)CGG>CAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q	p.R248Q	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	937	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		PASS	0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		25	31	25	31	---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10304656	10304656	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr17:10304656G>T	ENST00000403437.2	-	24	3138	c.3044C>A	c.(3043-3045)gCa>gAa	p.A1015E	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1015					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.A1015E(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GTCCTCCTCTGCCTGCAGGTC	0.458									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(3)|breast(2)	11						c.(3043-3045)GCA>GAA		myosin, heavy chain 8, skeletal muscle,							160.0	159.0	159.0					17																	10304656		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10304656G>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3044C>A	17.37:g.10304656G>T	ENSP00000384330:p.Ala1015Glu					uc002gml.1_Intron	p.A1015E	NM_002472	NP_002463	P13535	MYH8_HUMAN			24	3139	-			1015			Potential.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.3044C>A	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.673194	0.47781	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.78364	-1.17	5.65	4.66	0.58398	.	0.169473	0.27420	U	0.019450	T	0.74726	0.3754	L	0.52823	1.66	0.42742	D	0.993749	B	0.16802	0.019	B	0.21708	0.036	T	0.73633	-0.3921	10	0.87932	D	0	.	15.0589	0.71936	0.0686:0.0:0.9314:0.0	.	1015	P13535	MYH8_HUMAN	E	1015	ENSP00000384330:A1015E	ENSP00000252173:A1015E	A	-	2	0	MYH8	10245381	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	1.817000	0.39002	2.941000	0.99782	0.655000	0.94253	GCA		PASS	0.458	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		86	112	86	112	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11687649	11687649	+	Silent	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr17:11687649G>T	ENST00000262442.4	+	41	7922	c.7854G>T	c.(7852-7854)ccG>ccT	p.P2618P	DNAH9_ENST00000454412.2_Silent_p.P2618P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2618	AAA 3. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.P2618P(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCTCCTTCCCGGGGGCAGATG	0.532																																						uc002gne.2																			1	Substitution - coding silent(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(7852-7854)CCG>CCT		dynein, axonemal, heavy chain 9 isoform 2							213.0	207.0	209.0					17																	11687649		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11687649G>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7854G>T	17.37:g.11687649G>T						DNAH9_uc010coo.2_Silent_p.P1912P	p.P2618P	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	41	7922	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2618			AAA 3 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.7854G>T	CCDS11160.1																																																																																				PASS	0.532	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		138	163	138	163	---	---	---	---
TRIM16L	147166	broad.mit.edu	37	17	18638308	18638308	+	Silent	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr17:18638308C>T	ENST00000449552.2	+	7	2066	c.582C>T	c.(580-582)agC>agT	p.S194S	TRIM16L_ENST00000572555.1_Silent_p.S194S|TRIM16L_ENST00000395672.2_Silent_p.S194S|TRIM16L_ENST00000395902.3_Silent_p.S248S|TRIM16L_ENST00000395671.4_Silent_p.S194S|TRIM16L_ENST00000414850.2_Missense_Mutation_p.A107V|TRIM16L_ENST00000571708.1_Silent_p.S194S			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	194	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)		p.S194S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						ACCTCCCCAGCAGGTTCCTGC	0.612																																						uc002gug.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(580-582)AGC>AGT		tripartite motif-containing 16-like							26.0	24.0	25.0					17																	18638308		2202	4279	6481	SO:0001819	synonymous_variant	147166					cytoplasm		g.chr17:18638308C>T	DQ232882	CCDS32588.1	17p11.2	2011-02-10	2011-01-25		ENSG00000108448	ENSG00000108448			32670	protein-coding gene	gene with protein product			"""tripartite motif-containing 16-like"""				Standard	XM_005256479		Approved	TRIM70	uc002gui.1	Q309B1	OTTHUMG00000059050	ENST00000449552.2:c.582C>T	17.37:g.18638308C>T						TRIM16L_uc010vyf.1_Silent_p.S248S|TRIM16L_uc002guh.1_Silent_p.S194S|TRIM16L_uc010cqg.1_Silent_p.S296S|TRIM16L_uc002gui.1_Silent_p.S194S|TRIM16L_uc010vyg.1_Silent_p.S194S|TRIM16L_uc010vyh.1_Missense_Mutation_p.A107V	p.S194S	NM_001037330	NP_001032407	Q309B1	TR16L_HUMAN			10	1269	+			194			B30.2/SPRY.		A0PK10|B2RUW6|B4DQK2|B4DWQ8	Silent	SNP	ENST00000449552.2	37	c.582C>T	CCDS32588.1	.	.	.	.	.	.	.	.	.	.	c	15.63	2.891189	0.52014	.	.	ENSG00000108448	ENST00000414850	.	.	.	3.54	1.45	0.22620	.	.	.	.	.	T	0.41488	0.1161	.	.	.	0.80722	D	1	B	0.11235	0.004	B	0.09377	0.004	T	0.27400	-1.0075	7	0.52906	T	0.07	-15.3625	2.6957	0.05134	0.2243:0.5089:0.0:0.2668	.	107	B4DWQ8	.	V	107	.	ENSP00000403648:A107V	A	+	2	0	TRIM16L	18579033	0.955000	0.32602	0.996000	0.52242	0.649000	0.38597	0.016000	0.13377	0.177000	0.19895	0.194000	0.17425	GCA		PASS	0.612	TRIM16L-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130670.3	NM_001037330		15	18	15	18	---	---	---	---
SLC35G3	146861	broad.mit.edu	37	17	33520841	33520841	+	Silent	SNP	C	C	A	rs554072328		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr17:33520841C>A	ENST00000297307.5	-	1	571	c.486G>T	c.(484-486)ctG>ctT	p.L162L	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	162	EamA 1.					integral component of membrane (GO:0016021)		p.L162L(1)									TGCAGCCCAACAGTCCACACC	0.592																																						uc002hjd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(484-486)CTG>CTT		acyl-malonyl condensing enzyme 1							170.0	165.0	167.0					17																	33520841		2203	4300	6503	SO:0001819	synonymous_variant	146861					integral to membrane		g.chr17:33520841C>A	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.486G>T	17.37:g.33520841C>A							p.L162L	NM_152462	NP_689675	Q8N808	AMAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0917)	1	572	-			162			DUF6 1.|Helical; (Potential).		B9EGE9	Silent	SNP	ENST00000297307.5	37	c.486G>T	CCDS11293.1																																																																																				PASS	0.592	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		58	164	58	164	---	---	---	---
TBC1D3B	414059	broad.mit.edu	37	17	34493456	34493456	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr17:34493456G>T	ENST00000454519.3	-	14	1718	c.1569C>A	c.(1567-1569)gaC>gaA	p.D523E	CTB-91J4.1_ENST00000592460.1_RNA|TBC1D3B_ENST00000398801.3_Missense_Mutation_p.D523E	NM_001001417.5	NP_001001417.5	A6NDS4	TBC3B_HUMAN	TBC1 domain family, member 3B	523						plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)	p.D523E(1)		endometrium(2)|lung(3)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		actgctgttcgTCCCTAGCTC	0.627																																						uc002hky.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1567-1569)GAC>GAA		TBC1 domain family, member 3B							11.0	17.0	16.0					17																	34493456		734	1955	2689	SO:0001583	missense	414059					intracellular	Rab GTPase activator activity	g.chr17:34493456G>T	AF540953	CCDS42300.1	17q12	2014-09-16				ENSG00000274226			27011	protein-coding gene	gene with protein product		610144	"""TBC1 domain family, member 3I"""	TBC1D3I		12359748, 16863688	Standard	XM_005257980		Approved	PRC17	uc002hky.2	A6NDS4	OTTHUMG00000188417	ENST00000454519.3:c.1569C>A	17.37:g.34493456G>T	ENSP00000390852:p.Asp523Glu						p.D523E	NM_001001417	NP_001001417	Q8IZP1	TBC3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	14	1719	-		Breast(25;0.102)|Ovarian(249;0.17)	523					A8K892	Missense_Mutation	SNP	ENST00000454519.3	37	c.1569C>A	CCDS42300.1	.	.	.	.	.	.	.	.	.	.	.	4.576	0.106932	0.08780	.	.	ENSG00000224226	ENST00000398801;ENST00000454519;ENST00000340106	T;T	0.13538	2.58;2.58	0.292	0.292	0.15737	.	4.260740	0.03075	U	0.157755	T	0.08044	0.0201	N	0.08118	0	0.09310	N	1	B	0.18863	0.031	B	0.15484	0.013	T	0.33266	-0.9875	9	0.56958	D	0.05	.	.	.	.	.	523	A6NDS4	TBC3B_HUMAN	E	523;523;501	ENSP00000381781:D523E;ENSP00000390852:D523E	ENSP00000340678:D501E	D	-	3	2	TBC1D3B	31517569	0.383000	0.25156	0.007000	0.13788	0.007000	0.05969	1.012000	0.29924	0.387000	0.25024	0.392000	0.25879	GAC		PASS	0.627	TBC1D3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256087.3	NM_001001417		60	53	60	53	---	---	---	---
HNF1B	6928	broad.mit.edu	37	17	36093605	36093605	+	Silent	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr17:36093605G>T	ENST00000225893.4	-	3	1115	c.754C>A	c.(754-756)Cgg>Agg	p.R252R	HNF1B_ENST00000427275.2_Silent_p.R226R|HNF1B_ENST00000561193.1_Silent_p.R226R|HNF1B_ENST00000560016.1_Silent_p.R252R	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	252					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R252R(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TTCTTTTGCCGATCGTAGGCC	0.572																																					Colon(71;102 1179 9001 27917 43397)	uc002hok.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(754-756)CGG>AGG		hepatocyte nuclear factor 1-beta isoform 1							162.0	150.0	154.0					17																	36093605		2203	4300	6503	SO:0001819	synonymous_variant	6928	Hereditary_Prostate_Cancer			endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:36093605G>T	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"""Homeoboxes / HNF class"""	11630	protein-coding gene	gene with protein product		189907	"""transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"""	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.754C>A	17.37:g.36093605G>T						HNF1B_uc010wdi.1_Silent_p.R226R|HNF1B_uc010cve.1_Silent_p.R60R	p.R252R	NM_000458	NP_000449	P35680	HNF1B_HUMAN	STAD - Stomach adenocarcinoma(1;0.0142)		3	975	-		Breast(25;0.00765)|Ovarian(249;0.15)	252			Homeobox; HNF1-type.		B4DKM3|E0YMJ9	Silent	SNP	ENST00000225893.4	37	c.754C>A	CCDS11324.1																																																																																				PASS	0.572	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		82	177	82	177	---	---	---	---
KRT23	25984	broad.mit.edu	37	17	39087664	39087664	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr17:39087664A>T	ENST00000209718.3	-	3	864	c.440T>A	c.(439-441)aTt>aAt	p.I147N	AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Missense_Mutation_p.I10N	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	147	Coil 1B.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.I147N(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GGCATTGTCAATGAGAAGAAT	0.408																																						uc002hvm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(439-441)ATT>AAT		keratin 23							171.0	148.0	156.0					17																	39087664		2203	4300	6503	SO:0001583	missense	25984					intermediate filament	structural molecule activity	g.chr17:39087664A>T	AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.440T>A	17.37:g.39087664A>T	ENSP00000209718:p.Ile147Asn					KRT23_uc010wfl.1_Missense_Mutation_p.I10N|KRT23_uc010cxf.1_Translation_Start_Site|KRT23_uc010cxg.2_Missense_Mutation_p.I147N|KRT23_uc002hvn.1_Missense_Mutation_p.I147N	p.I147N	NM_015515	NP_056330	Q9C075	K1C23_HUMAN			3	1029	-		Breast(137;0.000301)|Ovarian(249;0.15)	147			Rod.|Coil 1B.		A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Missense_Mutation	SNP	ENST00000209718.3	37	c.440T>A	CCDS11380.1	.	.	.	.	.	.	.	.	.	.	A	15.48	2.846428	0.51164	.	.	ENSG00000108244	ENST00000209718;ENST00000436344	D;D	0.89810	-2.57;-2.57	6.0	6.0	0.97389	Filament (1);	0.222618	0.31381	N	0.007760	D	0.94460	0.8217	M	0.83852	2.665	0.80722	D	1	D	0.69078	0.997	D	0.66847	0.947	D	0.94540	0.7744	10	0.52906	T	0.07	.	16.5075	0.84276	1.0:0.0:0.0:0.0	.	147	Q9C075	K1C23_HUMAN	N	147;10	ENSP00000209718:I147N;ENSP00000414056:I10N	ENSP00000209718:I147N	I	-	2	0	KRT23	36341190	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.125000	0.77193	2.302000	0.77476	0.528000	0.53228	ATT		PASS	0.408	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257223.1			39	86	39	86	---	---	---	---
TBX21	30009	broad.mit.edu	37	17	45822456	45822456	+	Silent	SNP	G	G	A	rs200867606	byFrequency	TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr17:45822456G>A	ENST00000177694.1	+	6	1543	c.1332G>A	c.(1330-1332)ccG>ccA	p.P444P		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	444					cellular response to organic substance (GO:0071310)|lymphocyte migration (GO:0072676)|multicellular organismal development (GO:0007275)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.P444P(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						AGATGGGCCCGGCCAGCTGGT	0.692													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16340	0.0		0.0	False		,,,				2504	0.0					uc002ilv.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1330-1332)CCG>CCA		T-box 21																																				SO:0001819	synonymous_variant	30009				lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr17:45822456G>A	AF093098	CCDS11514.1	17q21.2	2008-06-23				ENSG00000073861		"""T-boxes"""	11599	protein-coding gene	gene with protein product		604895					Standard	NM_013351		Approved	TBLYM, T-bet	uc002ilv.1	Q9UL17		ENST00000177694.1:c.1332G>A	17.37:g.45822456G>A							p.P444P	NM_013351	NP_037483	Q9UL17	TBX21_HUMAN			6	1543	+			444						Silent	SNP	ENST00000177694.1	37	c.1332G>A	CCDS11514.1																																																																																				PASS	0.692	TBX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441365.1	NM_013351		22	46	22	46	---	---	---	---
KIF2B	84643	broad.mit.edu	37	17	51901693	51901693	+	Silent	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr17:51901693G>T	ENST00000268919.4	+	1	1455	c.1299G>T	c.(1297-1299)ctG>ctT	p.L433L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	433	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L433L(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGATCATCCTGAAGTCAGGAC	0.512																																						uc002iua.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(3)	8						c.(1297-1299)CTG>CTT		kinesin family member 2B							76.0	62.0	67.0					17																	51901693		2203	4300	6503	SO:0001819	synonymous_variant	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901693G>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1299G>T	17.37:g.51901693G>T						uc010wna.1_RNA	p.L433L	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	1455	+			433			Kinesin-motor.		Q96MA2|Q9BXG6	Silent	SNP	ENST00000268919.4	37	c.1299G>T	CCDS32685.1																																																																																				PASS	0.512	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		13	65	13	65	---	---	---	---
AKAP1	8165	broad.mit.edu	37	17	55183423	55183423	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr17:55183423G>T	ENST00000337714.3	+	2	831	c.598G>T	c.(598-600)Ggt>Tgt	p.G200C	AKAP1_ENST00000571629.1_Missense_Mutation_p.G200C|AKAP1_ENST00000539273.1_Missense_Mutation_p.G200C|AKAP1_ENST00000314126.3_Missense_Mutation_p.G200C|AKAP1_ENST00000572557.1_Missense_Mutation_p.G200C	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	200					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G200C(1)		endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					AAGAGAGACAGGTGGGGCCGA	0.592																																						uc002iux.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(598-600)GGT>TGT		A-kinase anchor protein 1 precursor							79.0	76.0	77.0					17																	55183423		2203	4300	6503	SO:0001583	missense	8165				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	g.chr17:55183423G>T	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Tudor domain containing"""	367	protein-coding gene	gene with protein product	"""protein kinase anchoring protein 1"", ""dual specificity A-kinase-anchoring protein 1"", ""protein phosphatase 1, regulatory subunit 43"", ""tudor domain containing 17"""	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.598G>T	17.37:g.55183423G>T	ENSP00000337736:p.Gly200Cys					AKAP1_uc010wnl.1_Missense_Mutation_p.G200C|AKAP1_uc002iuy.2_RNA|AKAP1_uc010dcm.2_Missense_Mutation_p.G200C	p.G200C	NM_003488	NP_003479	Q92667	AKAP1_HUMAN			2	829	+	Breast(9;5.46e-08)		200					A8K8Q1|D3DTZ0|Q13320|Q9BW14	Missense_Mutation	SNP	ENST00000337714.3	37	c.598G>T	CCDS11594.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.113731	0.56398	.	.	ENSG00000121057	ENST00000337714;ENST00000314126;ENST00000427138;ENST00000539273	T;T;T	0.17528	2.27;2.27;2.27	5.76	-0.563	0.11778	.	1.161830	0.05986	N	0.645154	T	0.24699	0.0599	L	0.59436	1.845	0.09310	N	1	D	0.63880	0.993	P	0.49999	0.628	T	0.31916	-0.9926	10	0.72032	D	0.01	-0.0746	7.0127	0.24871	0.181:0.3937:0.4253:0.0	.	200	Q92667	AKAP1_HUMAN	C	200;200;242;200	ENSP00000337736:G200C;ENSP00000314075:G200C;ENSP00000443139:G200C	ENSP00000314075:G200C	G	+	1	0	AKAP1	52538422	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.116000	0.10724	0.049000	0.15920	-0.176000	0.13171	GGT		PASS	0.592	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			37	83	37	83	---	---	---	---
USP32	84669	broad.mit.edu	37	17	58256732	58256732	+	Nonsense_Mutation	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr17:58256732G>A	ENST00000300896.4	-	34	4893	c.4699C>T	c.(4699-4701)Cag>Tag	p.Q1567*	USP32_ENST00000592339.1_Nonsense_Mutation_p.Q1237*	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1567	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.Q1567*(1)		NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TCTATCCCCTGCTGCTCATAG	0.413																																						uc002iyo.1																			1	Substitution - Nonsense(1)		lung(1)	lung(2)|breast(2)|large_intestine(1)	5						c.(4699-4701)CAG>TAG		ubiquitin specific protease 32							124.0	112.0	116.0					17																	58256732		2203	4300	6503	SO:0001587	stop_gained	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58256732G>A	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.4699C>T	17.37:g.58256732G>A	ENSP00000300896:p.Gln1567*					USP32_uc002iyn.1_Nonsense_Mutation_p.Q1237*	p.Q1567*	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		34	4985	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1567					Q7Z5T3|Q9BX85|Q9Y591	Nonsense_Mutation	SNP	ENST00000300896.4	37	c.4699C>T	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	G	45	11.857863	0.99610	.	.	ENSG00000170832	ENST00000300896	.	.	.	5.44	4.45	0.53987	.	0.052804	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	14.6182	0.68565	0.0:0.0:0.8532:0.1468	.	.	.	.	X	1567	.	ENSP00000300896:Q1567X	Q	-	1	0	USP32	55611514	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.615000	0.74201	1.270000	0.44297	0.563000	0.77884	CAG		PASS	0.413	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		57	113	57	113	---	---	---	---
BPTF	2186	broad.mit.edu	37	17	65850849	65850849	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr17:65850849A>T	ENST00000321892.4	+	2	1468	c.1407A>T	c.(1405-1407)aaA>aaT	p.K469N	BPTF_ENST00000306378.6_Missense_Mutation_p.K469N|BPTF_ENST00000424123.3_Missense_Mutation_p.K330N|BPTF_ENST00000335221.5_Missense_Mutation_p.K469N			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	469					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.K469N(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GTCGGAGGAAATACTGGTTCT	0.358																																						uc002jgf.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(1405-1407)AAA>AAT		bromodomain PHD finger transcription factor							65.0	59.0	61.0					17																	65850849		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65850849A>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.1407A>T	17.37:g.65850849A>T	ENSP00000315454:p.Lys469Asn					BPTF_uc002jge.2_Missense_Mutation_p.K469N|BPTF_uc010wqm.1_Missense_Mutation_p.K469N	p.K469N	NM_182641	NP_872579	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		2	1468	+	all_cancers(12;6e-11)		469					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.1407A>T		.	.	.	.	.	.	.	.	.	.	A	12.99	2.102276	0.37145	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.68025	-0.27;-0.3;-0.28	5.5	4.43	0.53597	.	.	.	.	.	T	0.81029	0.4738	M	0.80982	2.52	0.54753	D	0.999986	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.994;0.996;0.998	T	0.82321	-0.0515	9	0.87932	D	0	.	11.2594	0.49074	0.9284:0.0:0.0716:0.0	.	469;469;469	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	N	374;469;469;469;330	ENSP00000307208:K469N;ENSP00000334351:K469N;ENSP00000315454:K469N	ENSP00000307208:K469N	K	+	3	2	BPTF	63281311	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.138000	0.50570	0.931000	0.37242	-0.250000	0.11733	AAA		PASS	0.358	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		16	40	16	40	---	---	---	---
GPRC5C	55890	broad.mit.edu	37	17	72436491	72436491	+	Silent	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr17:72436491C>T	ENST00000392627.1	+	2	1837	c.711C>T	c.(709-711)agC>agT	p.S237S	GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000392629.2_Silent_p.S204S	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	192					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)	p.S237S(1)|p.S204S(1)		central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						AGGGCAACAGCAGCGCAGGCT	0.622																																						uc002jks.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|prostate(1)|central_nervous_system(1)|pancreas(1)	5						c.(574-576)AGC>AGT		G protein-coupled receptor family C, group 5,							47.0	46.0	46.0					17																	72436491		2203	4300	6503	SO:0001819	synonymous_variant	55890					cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr17:72436491C>T	AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"""GPCR / Class C : Orphans"""	13309	protein-coding gene	gene with protein product		605949	"""G protein-coupled receptor, family C, group 5, member C"""			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000392627.1:c.711C>T	17.37:g.72436491C>T						GPRC5C_uc002jkp.2_Silent_p.S237S|GPRC5C_uc002jkq.2_Intron|GPRC5C_uc002jkr.2_Silent_p.S204S|GPRC5C_uc002jkt.2_Silent_p.S192S|GPRC5C_uc002jku.2_5'Flank	p.S192S	NM_018653	NP_061123	Q9NQ84	GPC5C_HUMAN			1	615	+			192			Extracellular (Potential).		B5BUN4|Q2NL85|Q9NZG5	Silent	SNP	ENST00000392627.1	37	c.576C>T	CCDS11699.1																																																																																				PASS	0.622	GPRC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145094.2			20	28	20	28	---	---	---	---
GRIN2C	2905	broad.mit.edu	37	17	72843596	72843596	+	Missense_Mutation	SNP	C	C	T	rs377590628		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr17:72843596C>T	ENST00000293190.5	-	9	1998	c.1852G>A	c.(1852-1854)Gag>Aag	p.E618K	GRIN2C_ENST00000347612.4_Missense_Mutation_p.E618K	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	618					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)	p.E618K(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CGCGGGTTCTCGATGGGCACT	0.627																																						uc002jlt.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(2)	4						c.(1852-1854)GAG>AAG		N-methyl-D-aspartate receptor subunit 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	C	LYS/GLU	0,4406		0,0,2203	75.0	68.0	70.0		1852	4.3	1.0	17		70	1,8599	1.2+/-3.3	0,1,4299	no	missense	GRIN2C	NM_000835.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	618/1234	72843596	1,13005	2203	4300	6503	SO:0001583	missense	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72843596C>T		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.1852G>A	17.37:g.72843596C>T	ENSP00000293190:p.Glu618Lys					GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.E618K	p.E618K	NM_000835	NP_000826	Q14957	NMDE3_HUMAN			9	2008	-	all_lung(278;0.172)|Lung NSC(278;0.207)		618			Cytoplasmic (Potential).		B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	c.1852G>A	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548198	0.45383	0.0	1.16E-4	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.55930	0.49	4.29	4.29	0.51040	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.058680	0.64402	D	0.000003	T	0.53206	0.1782	N	0.19112	0.55	0.51482	D	0.999923	D;D	0.69078	0.997;0.98	P;P	0.60789	0.879;0.782	T	0.59032	-0.7530	10	0.87932	D	0	.	12.7575	0.57343	0.0:0.8346:0.1654:0.0	.	652;618	Q8IW23;Q14957	.;NMDE3_HUMAN	K	618;652	ENSP00000293190:E618K	ENSP00000293190:E618K	E	-	1	0	GRIN2C	70355191	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	5.799000	0.69101	2.357000	0.79964	0.561000	0.74099	GAG		PASS	0.627	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			4	65	4	65	---	---	---	---
DNAH17	8632	broad.mit.edu	37	17	76497289	76497289	+	Silent	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr17:76497289C>A	ENST00000585328.1	-	35	5569	c.5445G>T	c.(5443-5445)ctG>ctT	p.L1815L	DNAH17-AS1_ENST00000598378.1_3'UTR|RP11-559N14.5_ENST00000591373.1_RNA|DNAH17_ENST00000389840.5_Silent_p.L1806L	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1806	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L1815L(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGGTGATGACCAGCCGCGGCG	0.562																																						uc002jvt.1																			1	Substitution - coding silent(1)		lung(1)										Homo sapiens cDNA FLJ45552 fis, clone BRTHA2038279.							96.0	108.0	104.0					17																	76497289		2166	4283	6449	SO:0001819	synonymous_variant	0							g.chr17:76497289C>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.5445G>T	17.37:g.76497289C>A														2		+								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	RNA	SNP	ENST00000585328.1	37	c.2748C>A																																																																																					PASS	0.562	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		26	80	26	80	---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78320176	78320176	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr17:78320176G>T	ENST00000582970.1	+	29	8184	c.8041G>T	c.(8041-8043)Gtc>Ttc	p.V2681F	RNF213_ENST00000508628.2_Missense_Mutation_p.V2730F|RNF213_ENST00000336301.6_Missense_Mutation_p.V754F	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2681					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V754F(1)|p.V2730F(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GAGAGATCCCGTCCTCTGGTC	0.522																																						uc002jyh.1																			2	Substitution - Missense(2)		lung(2)	ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(2260-2262)GTC>TTC		ring finger protein 213							64.0	63.0	63.0					17																	78320176		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78320176G>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.8041G>T	17.37:g.78320176G>T	ENSP00000464087:p.Val2681Phe						p.V754F	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		4	2483	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.2260G>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	1.759	-0.487239	0.04352	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.25579	1.79	5.37	1.15	0.20763	.	0.257755	0.31061	N	0.008340	T	0.21921	0.0528	L	0.52573	1.65	0.09310	N	1	B	0.26041	0.14	B	0.30316	0.114	T	0.18398	-1.0338	10	0.33141	T	0.24	.	8.9001	0.35490	0.2888:0.0:0.7112:0.0	.	754	Q63HN8	RN213_HUMAN	F	2681;2730;754	ENSP00000338218:V754F	ENSP00000338218:V754F	V	+	1	0	RNF213	75934771	1.000000	0.71417	0.001000	0.08648	0.126000	0.20510	3.477000	0.53151	0.008000	0.14787	-0.253000	0.11424	GTC		PASS	0.522	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		5	66	5	66	---	---	---	---
APCDD1	147495	broad.mit.edu	37	18	10487919	10487919	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr18:10487919G>T	ENST00000355285.5	+	5	1783	c.1429G>T	c.(1429-1431)Gca>Tca	p.A477S		NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1									p.A477S(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		AGAGGACCTCGCAGAAGACAG	0.647																																						uc002kom.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1429-1431)GCA>TCA		adenomatosis polyposis coli down-regulated 1							60.0	62.0	61.0					18																	10487919		2203	4300	6503	SO:0001583	missense	147495				hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding	g.chr18:10487919G>T	AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.1429G>T	18.37:g.10487919G>T	ENSP00000347433:p.Ala477Ser						p.A477S	NM_153000	NP_694545	Q8J025	APCD1_HUMAN		READ - Rectum adenocarcinoma(15;0.08)	5	1783	+			477			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000355285.5	37	c.1429G>T	CCDS11849.1	.	.	.	.	.	.	.	.	.	.	G	6.676	0.493359	0.12702	.	.	ENSG00000154856	ENST00000355285;ENST00000423585	T	0.35048	1.33	5.62	-11.2	0.00127	.	1.644270	0.03538	N	0.223446	T	0.09598	0.0236	N	0.04203	-0.255	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17715	-1.0360	10	0.06625	T	0.88	-3.2455	0.6443	0.00816	0.329:0.1813:0.1025:0.3872	.	477	Q8J025	APCD1_HUMAN	S	477;528	ENSP00000347433:A477S	ENSP00000347433:A477S	A	+	1	0	APCDD1	10477919	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.721000	0.04963	-1.579000	0.01646	-0.309000	0.09137	GCA		PASS	0.647	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2	NM_153000		41	87	41	87	---	---	---	---
DTNA	1837	broad.mit.edu	37	18	32374114	32374114	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr18:32374114A>G	ENST00000399113.3	+	3	262	c.262A>G	c.(262-264)Att>Gtt	p.I88V	DTNA_ENST00000554864.3_Missense_Mutation_p.I88V|DTNA_ENST00000283365.9_Missense_Mutation_p.I88V|DTNA_ENST00000595022.1_Missense_Mutation_p.I88V|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000597599.1_Missense_Mutation_p.I88V|DTNA_ENST00000348997.5_Missense_Mutation_p.I88V|DTNA_ENST00000598142.1_Missense_Mutation_p.I88V|DTNA_ENST00000596745.1_Missense_Mutation_p.I88V|DTNA_ENST00000269190.7_Missense_Mutation_p.I88V|DTNA_ENST00000399121.5_Missense_Mutation_p.I88V|DTNA_ENST00000315456.6_Missense_Mutation_p.I88V|DTNA_ENST00000444659.1_Missense_Mutation_p.I88V|DTNA_ENST00000598334.1_Missense_Mutation_p.I88V|DTNA_ENST00000598774.1_Missense_Mutation_p.I88V|DTNA_ENST00000269191.6_Missense_Mutation_p.I88V			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	88	Interaction with MAGEE1. {ECO:0000250}.				neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.I88V(5)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GCTCTCCACTATTTTTTACCA	0.488																																						uc010dmn.1																			5	Substitution - Missense(5)		lung(5)		0						c.(262-264)ATT>GTT		dystrobrevin alpha isoform 1							235.0	182.0	200.0					18																	32374114		2203	4300	6503	SO:0001583	missense	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32374114A>G	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.262A>G	18.37:g.32374114A>G	ENSP00000382064:p.Ile88Val					DTNA_uc002kxu.2_Missense_Mutation_p.I88V|DTNA_uc010xbx.1_Missense_Mutation_p.I88V|DTNA_uc002kxv.3_Missense_Mutation_p.I88V|DTNA_uc002kxw.2_Missense_Mutation_p.I88V|DTNA_uc002kxx.2_Missense_Mutation_p.I88V|DTNA_uc010dmj.2_Missense_Mutation_p.I88V|DTNA_uc002kxz.2_Missense_Mutation_p.I88V|DTNA_uc002kxy.2_Missense_Mutation_p.I88V|DTNA_uc010dmk.1_RNA|DTNA_uc010dml.2_Missense_Mutation_p.I88V|DTNA_uc002kyb.3_Missense_Mutation_p.I88V|DTNA_uc010dmm.2_Missense_Mutation_p.I88V	p.I88V	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN			3	263	+			88			Interaction with MAGEE1 (By similarity).		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	c.262A>G	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	A	12.54	1.968917	0.34754	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000315456;ENST00000556176;ENST00000399114;ENST00000269190;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113	T;T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.43	5.43	0.79202	EF-hand domain, type 1 (1);EF-hand-like domain (1);	0.113127	0.64402	D	0.000016	T	0.52419	0.1733	L	0.39467	1.215	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;B;B	0.12630	0.0;0.002;0.001;0.003;0.002;0.002;0.006;0.005;0.004;0.002;0.0;0.003	B;B;B;B;B;B;B;B;B;B;B;B	0.23574	0.001;0.012;0.004;0.012;0.019;0.014;0.026;0.032;0.047;0.019;0.0;0.028	T	0.50466	-0.8825	10	0.40728	T	0.16	-5.4683	9.6187	0.39708	0.921:0.0:0.079:0.0	.	88;88;88;88;88;88;88;99;88;88;88;88	B4DGS6;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-4;E9PEH8;Q59GK7;Q9BS59;Q9Y4J8-2;Q9Y4J8-5;Q9Y4J8-7	.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.;.	V	88	ENSP00000283365:I88V;ENSP00000322519:I88V;ENSP00000269190:I88V;ENSP00000336682:I88V;ENSP00000382072:I88V;ENSP00000405819:I88V;ENSP00000269191:I88V;ENSP00000382064:I88V	ENSP00000269190:I88V	I	+	1	0	DTNA	30628112	0.995000	0.38212	1.000000	0.80357	0.790000	0.44656	3.211000	0.51137	2.187000	0.69744	0.460000	0.39030	ATT		PASS	0.488	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		34	100	34	100	---	---	---	---
CELF4	56853	broad.mit.edu	37	18	34839211	34839211	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr18:34839211G>T	ENST00000591282.1	-	11	1265	c.1266C>A	c.(1264-1266)aaC>aaA	p.N422K	CELF4_ENST00000591287.1_Missense_Mutation_p.N420K|CELF4_ENST00000603232.1_Missense_Mutation_p.N421K|CELF4_ENST00000601019.1_Missense_Mutation_p.N420K|CELF4_ENST00000412753.1_Missense_Mutation_p.N421K|CELF4_ENST00000334919.5_Intron|CELF4_ENST00000420428.2_Missense_Mutation_p.N422K|CELF4_ENST00000588597.1_Missense_Mutation_p.N410K|CELF4_ENST00000361795.5_Missense_Mutation_p.N420K			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	422	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)	p.N422K(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						AGATGAACAGGTTACAGCCCT	0.597																																						uc002lae.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1264-1266)AAC>AAA		bruno-like 4, RNA binding protein isoform 1							60.0	52.0	54.0					18																	34839211		2203	4300	6503	SO:0001583	missense	56853				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr18:34839211G>T	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.1266C>A	18.37:g.34839211G>T	ENSP00000464794:p.Asn422Lys					CELF4_uc010dnd.1_Missense_Mutation_p.N420K|CELF4_uc002lag.2_Intron|CELF4_uc002laf.2_Missense_Mutation_p.N416K|CELF4_uc002lai.2_Missense_Mutation_p.N406K	p.N422K	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN			11	1662	-			422			RRM 3.		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	ENST00000591282.1	37	c.1266C>A	CCDS32818.1	.	.	.	.	.	.	.	.	.	.	g	29.1	4.979207	0.92982	.	.	ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428	T	0.60171	0.21	4.79	4.79	0.61399	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.103020	0.64402	D	0.000005	T	0.59891	0.2227	L	0.42686	1.345	0.80722	D	1	B;B;B;B	0.33777	0.26;0.425;0.052;0.073	B;B;B;B	0.42214	0.38;0.23;0.028;0.119	T	0.64850	-0.6310	10	0.87932	D	0	-7.3774	18.024	0.89263	0.0:0.0:1.0:0.0	.	420;410;420;422	Q9BZC1-3;B4DHA8;Q9BZC1-2;Q9BZC1	.;.;.;CELF4_HUMAN	K	422;421;420	ENSP00000406823:N421K	ENSP00000355089:N422K	N	-	3	2	CELF4	33093209	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.738000	0.84966	2.480000	0.83734	0.650000	0.86243	AAC		PASS	0.597	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180		18	49	18	49	---	---	---	---
SLC14A1	6563	broad.mit.edu	37	18	43316432	43316432	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr18:43316432C>A	ENST00000321925.4	+	6	714	c.482C>A	c.(481-483)tCa>tAa	p.S161*	RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000402943.2_Nonsense_Mutation_p.S56*|SLC14A1_ENST00000589700.1_Nonsense_Mutation_p.S161*|SLC14A1_ENST00000436407.3_Nonsense_Mutation_p.S217*|SLC14A1_ENST00000502059.2_Nonsense_Mutation_p.S53*|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000591943.1_Intron|SLC14A1_ENST00000586142.1_Nonsense_Mutation_p.S161*|SLC14A1_ENST00000535474.1_Nonsense_Mutation_p.S29*|SLC14A1_ENST00000415427.3_Nonsense_Mutation_p.S217*	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1 (Kidd blood group)	161					transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372)	p.S217*(1)|p.S161*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						CCAATTTTCTCAAGTGCATTG	0.468																																						uc010xcn.1																			2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(1)|pancreas(1)	2						c.(481-483)TCA>TAA		solute carrier family 14 (urea transporter),							118.0	111.0	113.0					18																	43316432		2203	4300	6503	SO:0001587	stop_gained	6563					integral to plasma membrane	urea transmembrane transporter activity	g.chr18:43316432C>A	BC040128	CCDS11925.1, CCDS45860.1	18q11-q12	2014-07-19	2014-01-02		ENSG00000141469	ENSG00000141469		"""Blood group antigens"", ""Solute carriers"""	10918	protein-coding gene	gene with protein product		613868	"""Kidd blood group"", ""solute carrier family 14 (urea transporter), member 1"""	JK		7797558	Standard	NM_001146037		Approved	HsT1341, RACH1, RACH2	uc010dnk.3	Q13336	OTTHUMG00000132617	ENST00000321925.4:c.482C>A	18.37:g.43316432C>A	ENSP00000318546:p.Ser161*					SLC14A1_uc010dnk.2_Nonsense_Mutation_p.S217*|SLC14A1_uc002lbf.3_Nonsense_Mutation_p.S161*|SLC14A1_uc002lbg.3_Intron|SLC14A1_uc010xco.1_Nonsense_Mutation_p.S56*|SLC14A1_uc002lbh.3_Nonsense_Mutation_p.S53*|SLC14A1_uc002lbi.3_Nonsense_Mutation_p.S29*|SLC14A1_uc002lbj.3_Nonsense_Mutation_p.S217*|SLC14A1_uc002lbk.3_Nonsense_Mutation_p.S161*	p.S161*	NM_001146036	NP_001139508	Q13336	UT1_HUMAN			7	801	+			161			Helical; (Potential).		A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5	Nonsense_Mutation	SNP	ENST00000321925.4	37	c.482C>A	CCDS11925.1	.	.	.	.	.	.	.	.	.	.	C	38	7.017727	0.98006	.	.	ENSG00000141469	ENST00000321925;ENST00000415427;ENST00000502059;ENST00000402943;ENST00000535474;ENST00000436407	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.218	19.4985	0.95083	0.0:1.0:0.0:0.0	.	.	.	.	X	161;217;53;56;29;217	.	ENSP00000318546:S161X	S	+	2	0	SLC14A1	41570430	1.000000	0.71417	0.998000	0.56505	0.378000	0.30076	6.717000	0.74707	2.598000	0.87819	0.650000	0.86243	TCA		PASS	0.468	SLC14A1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255860.2	NM_015865		51	137	51	137	---	---	---	---
DSEL	92126	broad.mit.edu	37	18	65181475	65181475	+	Missense_Mutation	SNP	T	T	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr18:65181475T>G	ENST00000310045.7	-	2	1874	c.401A>C	c.(400-402)aAt>aCt	p.N134T	RP11-638L3.1_ENST00000583687.1_lincRNA|CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	124					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)	p.N134T(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AGGAGGCAGATTGTTACCATA	0.418																																						uc002lke.1																			1	Substitution - Missense(1)	p.N134N(1)	lung(1)	ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6						c.(400-402)AAT>ACT		dermatan sulfate epimerase-like							113.0	101.0	105.0					18																	65181475		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65181475T>G	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.401A>C	18.37:g.65181475T>G	ENSP00000310565:p.Asn134Thr						p.N134T	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN			2	1625	-		Esophageal squamous(42;0.129)	124					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.401A>C	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.668697	0.88348	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.39997	1.05	4.79	4.79	0.61399	.	0.000000	0.85682	U	0.000000	T	0.64125	0.2570	M	0.75777	2.31	0.53688	D	0.999975	D	0.89917	1.0	D	0.80764	0.994	T	0.69113	-0.5231	10	0.72032	D	0.01	-21.5835	14.6496	0.68786	0.0:0.0:0.0:1.0	.	124	Q8IZU8	DSEL_HUMAN	T	134;124	ENSP00000310565:N134T	ENSP00000310565:N134T	N	-	2	0	DSEL	63332455	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.802000	0.85969	1.937000	0.56155	0.459000	0.35465	AAT		PASS	0.418	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		43	98	43	98	---	---	---	---
CTDP1	9150	broad.mit.edu	37	18	77470345	77470345	+	Splice_Site	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr18:77470345G>T	ENST00000299543.7	+	6	919		c.e6-1		CTDP1_ENST00000075430.7_Splice_Site	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1						exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)	p.?(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		TCTTTTCCAAGGCTTTTTAGA	0.403																																						uc002lnh.1																			1	Unknown(1)		lung(1)		0						c.e6-1		CTD (carboxy-terminal domain, RNA polymerase II,							170.0	186.0	181.0					18																	77470345		2203	4300	6503	SO:0001630	splice_region_variant	9150				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity	g.chr18:77470345G>T	AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.773-1G>T	18.37:g.77470345G>T						CTDP1_uc002lni.1_Splice_Site_p.G258_splice|CTDP1_uc010drd.1_Splice_Site_p.G258_splice	p.G258_splice	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)	6	920	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)						A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Splice_Site	SNP	ENST00000299543.7	37	c.773_splice	CCDS12017.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.789186	0.49997	.	.	ENSG00000060069	ENST00000299543;ENST00000075430	.	.	.	4.42	3.55	0.40652	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5327	0.56124	0.0818:0.0:0.9182:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CTDP1	75571333	1.000000	0.71417	0.978000	0.43139	0.587000	0.36485	8.916000	0.92745	0.987000	0.38709	0.462000	0.41574	.		PASS	0.403	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715	Intron	93	242	93	242	---	---	---	---
MARCH2	51257	broad.mit.edu	37	19	8491529	8491529	+	Silent	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr19:8491529G>T	ENST00000602117.1	+	3	668	c.213G>T	c.(211-213)gcG>gcT	p.A71A	MARCH2_ENST00000215555.2_Silent_p.A71A|MARCH2_ENST00000393944.1_Silent_p.A71A|MARCH2_ENST00000601283.1_Intron|RP11-886P16.6_ENST00000595706.1_RNA|MARCH2_ENST00000381035.4_Silent_p.A71A			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	71					endocytosis (GO:0006897)|protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A71A(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						ATGAGGGAGCGAACGGGGAGT	0.562																																						uc002mjv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(211-213)GCG>GCT		membrane-associated ring finger (C3HC4) 2							113.0	88.0	96.0					19																	8491529		2203	4300	6503	SO:0001819	synonymous_variant	51257				endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr19:8491529G>T	AF151074	CCDS12202.1, CCDS32894.1	19p13.2	2013-01-09	2012-02-23			ENSG00000099785		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	28038	protein-coding gene	gene with protein product		613332	"""membrane-associated ring finger (C3HC4) 2"""			11042152, 14722266	Standard	NM_016496		Approved	HSPC240, MARCH-II, RNF172	uc002mjw.3	Q9P0N8		ENST00000602117.1:c.213G>T	19.37:g.8491529G>T						MARCH2_uc002mjw.2_Silent_p.A71A|MARCH2_uc002mjx.2_Silent_p.A71A	p.A71A	NM_016496	NP_057580	Q9P0N8	MARH2_HUMAN			4	654	+			71			RING-CH-type.		A6NP10|Q5H785|Q8N5A3|Q96B78	Silent	SNP	ENST00000602117.1	37	c.213G>T	CCDS12202.1																																																																																				PASS	0.562	MARCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460361.2	NM_016496		32	163	32	163	---	---	---	---
MYO1F	4542	broad.mit.edu	37	19	8586456	8586456	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr19:8586456C>T	ENST00000338257.8	-	28	3520	c.3253G>A	c.(3253-3255)Ggc>Agc	p.G1085S		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	1085	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)	p.G1085S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CCCTCCTGGCCGTGAAGCCGG	0.622																																						uc002mkg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(3253-3255)GGC>AGC		myosin IF							38.0	45.0	43.0					19																	8586456		1901	4120	6021	SO:0001583	missense	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8586456C>T	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.3253G>A	19.37:g.8586456C>T	ENSP00000344871:p.Gly1085Ser						p.G1085S	NM_012335	NP_036467	O00160	MYO1F_HUMAN			28	3367	-			1085			SH3.		Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	c.3253G>A	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.979063	0.92982	.	.	ENSG00000142347	ENST00000338257	T	0.63255	-0.03	5.04	5.04	0.67666	Src homology-3 domain (4);	.	.	.	.	T	0.77412	0.4126	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.75625	-0.3253	9	0.31617	T	0.26	.	17.3954	0.87443	0.0:1.0:0.0:0.0	.	1085	O00160	MYO1F_HUMAN	S	1085	ENSP00000344871:G1085S	ENSP00000344871:G1085S	G	-	1	0	MYO1F	8492456	1.000000	0.71417	0.995000	0.50966	0.785000	0.44390	7.718000	0.84743	2.339000	0.79563	0.561000	0.74099	GGC		PASS	0.622	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			6	128	6	128	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	8993514	8993514	+	Missense_Mutation	SNP	C	C	A	rs371725938		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr19:8993514C>A	ENST00000397910.4	-	66	41778	c.41575G>T	c.(41575-41577)Gat>Tat	p.D13859Y	MUC16_ENST00000380951.5_Missense_Mutation_p.D500Y	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13862	SEA 12. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.D13859Y(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGATGGCATCCACTCCGGTG	0.582																																						uc002mkp.2																			1	Substitution - Missense(1)		lung(1)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(41575-41577)GAT>TAT		mucin 16							65.0	63.0	64.0					19																	8993514		1952	4147	6099	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8993514C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41575G>T	19.37:g.8993514C>A	ENSP00000381008:p.Asp13859Tyr					MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.D676Y|MUC16_uc010xki.1_RNA	p.D13859Y	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			66	41779	-			13862	Missing (in Ref. 3; AAK74120).		Extracellular (Potential).|SEA 12.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.41575G>T	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.00|12.00	1.806294|1.806294	0.31961|0.31961	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.25085|.	1.82;1.82|.	3.47|3.47	-0.0579|-0.0579	0.13799|0.13799	SEA (1);|.	0.233422|.	0.21781|.	U|.	0.069211|.	T|T	0.65260|0.65260	0.2674|0.2674	M|M	0.89904|0.89904	3.07|3.07	.|.	.|.	.|.	D;D|.	0.71674|.	0.995;0.998|.	P;D|.	0.80764|.	0.864;0.994|.	T|T	0.67952|0.67952	-0.5537|-0.5537	9|4	0.87932|.	D|.	0|.	.|.	5.3819|5.3819	0.16196|0.16196	0.0:0.5561:0.0:0.4439|0.0:0.5561:0.0:0.4439	.|.	21504;13859|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	Y|C	13859;500|698	ENSP00000381008:D13859Y;ENSP00000370338:D500Y|.	ENSP00000370338:D500Y|.	D|W	-|-	1|3	0|0	MUC16|MUC16	8854514|8854514	0.036000|0.036000	0.19791|0.19791	0.002000|0.002000	0.10522|0.10522	0.002000|0.002000	0.02628|0.02628	0.978000|0.978000	0.29488|0.29488	-0.035000|-0.035000	0.13691|0.13691	-0.259000|-0.259000	0.10710|0.10710	GAT|TGG		PASS	0.582	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		23	57	23	57	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9020773	9020773	+	Silent	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr19:9020773G>A	ENST00000397910.4	-	20	37532	c.37329C>T	c.(37327-37329)acC>acT	p.T12443T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12445	SEA 3. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T12443T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACCTGAGAGAGGTCAGTCTGC	0.537																																						uc002mkp.2																			1	Substitution - coding silent(1)		lung(1)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(37327-37329)ACC>ACT		mucin 16							154.0	133.0	140.0					19																	9020773		2006	4172	6178	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9020773G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.37329C>T	19.37:g.9020773G>A							p.T12443T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			20	37533	-			12445			Extracellular (Potential).|SEA 3.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.37329C>T	CCDS54212.1																																																																																				PASS	0.537	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		67	95	67	95	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9058508	9058508	+	Silent	SNP	G	G	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr19:9058508G>C	ENST00000397910.4	-	3	29141	c.28938C>G	c.(28936-28938)acC>acG	p.T9646T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9648	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T5279T(1)|p.T9646T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGACAGCCTGGTGACAACTT	0.502																																						uc002mkp.2																			2	Substitution - coding silent(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(28936-28938)ACC>ACG		mucin 16							157.0	140.0	146.0					19																	9058508		2002	4166	6168	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9058508G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28938C>G	19.37:g.9058508G>C							p.T9646T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	29142	-			9648			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.28938C>G	CCDS54212.1																																																																																				PASS	0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		17	88	17	88	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9085067	9085067	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr19:9085067C>G	ENST00000397910.4	-	1	6951	c.6748G>C	c.(6748-6750)Gtc>Ctc	p.V2250L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2250	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.V2250L(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAAAGGAGACAGTGGGAATA	0.458																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(6748-6750)GTC>CTC		mucin 16							92.0	89.0	90.0					19																	9085067		1955	4155	6110	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9085067C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6748G>C	19.37:g.9085067C>G	ENSP00000381008:p.Val2250Leu						p.V2250L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	6952	-			2250			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.6748G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	1.721	-0.496549	0.04291	.	.	ENSG00000181143	ENST00000397910	T	0.02498	4.27	0.225	0.225	0.15325	.	.	.	.	.	T	0.01592	0.0051	N	0.08118	0	.	.	.	B	0.27498	0.18	B	0.15052	0.012	T	0.38607	-0.9653	7	0.87932	D	0	.	.	.	.	.	2250	B5ME49	.	L	2250	ENSP00000381008:V2250L	ENSP00000381008:V2250L	V	-	1	0	MUC16	8946067	0.003000	0.15002	0.022000	0.16811	0.022000	0.10575	-0.812000	0.04496	0.300000	0.22699	0.305000	0.20034	GTC		PASS	0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		14	70	14	70	---	---	---	---
DCAF15	90379	broad.mit.edu	37	19	14065389	14065389	+	Silent	SNP	C	C	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr19:14065389C>G	ENST00000254337.6	+	3	303	c.282C>G	c.(280-282)acC>acG	p.T94T	PODNL1_ENST00000538517.2_5'Flank|PODNL1_ENST00000588317.1_5'Flank|PODNL1_ENST00000538371.2_5'Flank	NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	94					protein ubiquitination (GO:0016567)			p.T94T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						TCTCCTACACCAGCAGCAGTG	0.582																																						uc002mxt.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(280-282)ACC>ACG		DDB1 and CUL4 associated factor 15							112.0	96.0	102.0					19																	14065389		2203	4300	6503	SO:0001819	synonymous_variant	90379							g.chr19:14065389C>G	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"""DDB1 and CUL4 associated factors"""	25095	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 72"""	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.282C>G	19.37:g.14065389C>G						PODNL1_uc010xnj.1_5'Flank|PODNL1_uc002mxs.2_5'Flank	p.T94T	NM_138353	NP_612362	Q66K64	DCA15_HUMAN			3	288	+			94					B3KS86|Q96DW0|Q9BU31	Silent	SNP	ENST00000254337.6	37	c.282C>G	CCDS32926.1																																																																																				PASS	0.582	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	NM_138353		55	74	55	74	---	---	---	---
RFX1	5989	broad.mit.edu	37	19	14080949	14080949	+	Silent	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr19:14080949G>A	ENST00000254325.4	-	10	1587	c.1353C>T	c.(1351-1353)ggC>ggT	p.G451G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	451					immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)	p.G451G(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GCAGACTCACGCCCTCAGCCG	0.622																																						uc002mxv.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)|pancreas(1)	2						c.(1351-1353)GGC>GGT		regulatory factor X1							62.0	59.0	60.0					19																	14080949		2203	4300	6503	SO:0001819	synonymous_variant	5989				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:14080949G>A		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.1353C>T	19.37:g.14080949G>A						RFX1_uc010dzi.2_Silent_p.G451G	p.G451G	NM_002918	NP_002909	P22670	RFX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		10	1625	-			451			RFX-type winged-helix.			Silent	SNP	ENST00000254325.4	37	c.1353C>T	CCDS12301.1																																																																																				PASS	0.622	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918		11	49	11	49	---	---	---	---
NOTCH3	4854	broad.mit.edu	37	19	15281167	15281167	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr19:15281167C>A	ENST00000263388.2	-	27	5164	c.5089G>T	c.(5089-5091)Gtg>Ttg	p.V1697L		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1697					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.V1697L(2)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TCCTGGCCCACGGGTTCCCGC	0.667																																						uc002nan.2																			2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21						c.(5089-5091)GTG>TTG		Notch homolog 3 precursor							36.0	39.0	38.0					19																	15281167		2203	4300	6503	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15281167C>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5089G>T	19.37:g.15281167C>A	ENSP00000263388:p.Val1697Leu						p.V1697L	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		27	5165	-			1697			Cytoplasmic (Potential).		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.5089G>T	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.887754	0.72410	.	.	ENSG00000074181	ENST00000263388	T	0.81330	-1.48	3.96	3.96	0.45880	.	.	.	.	.	D	0.82719	0.5098	L	0.33710	1.025	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.78802	-0.2061	9	0.17832	T	0.49	.	14.9692	0.71220	0.0:1.0:0.0:0.0	.	1697	Q9UM47	NOTC3_HUMAN	L	1697	ENSP00000263388:V1697L	ENSP00000263388:V1697L	V	-	1	0	NOTCH3	15142167	0.952000	0.32445	0.894000	0.35097	0.759000	0.43091	2.131000	0.42074	2.052000	0.61016	0.585000	0.79938	GTG		PASS	0.667	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		11	61	11	61	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	30934517	30934517	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr19:30934517A>T	ENST00000355537.3	+	2	195	c.48A>T	c.(46-48)gaA>gaT	p.E16D		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	16					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.E16D(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGGAGCCGGAAGCTGAGCCCC	0.627																																						uc002nsu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(46-48)GAA>GAT		zinc finger protein 536							97.0	97.0	97.0					19																	30934517		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30934517A>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.48A>T	19.37:g.30934517A>T	ENSP00000347730:p.Glu16Asp					ZNF536_uc010edd.1_Missense_Mutation_p.E16D	p.E16D	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	186	+	Esophageal squamous(110;0.0834)		16					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.48A>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	A	3.810	-0.039833	0.07497	.	.	ENSG00000198597	ENST00000355537	T	0.07800	3.16	5.16	1.83	0.25207	.	0.270023	0.41001	N	0.000963	T	0.04363	0.0120	N	0.17082	0.46	0.32928	D	0.516695	B;B	0.15930	0.015;0.015	B;B	0.09377	0.004;0.004	T	0.33497	-0.9866	10	0.20046	T	0.44	-17.0043	7.0431	0.25031	0.7353:0.1257:0.1389:0.0	.	16;16	A7E228;O15090	.;ZN536_HUMAN	D	16	ENSP00000347730:E16D	ENSP00000347730:E16D	E	+	3	2	ZNF536	35626357	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	2.339000	0.43965	0.357000	0.24183	0.379000	0.24179	GAA		PASS	0.627	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		54	154	54	154	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31770074	31770074	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr19:31770074T>A	ENST00000240587.4	-	2	952	c.625A>T	c.(625-627)Acg>Tcg	p.T209S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	209					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T209S(1)|p.T26S(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CTGGCCCCCGTGAAGATGGAG	0.627																																						uc002nsy.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(625-627)ACG>TCG		zinc finger protein 537							81.0	75.0	77.0					19																	31770074		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31770074T>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.625A>T	19.37:g.31770074T>A	ENSP00000240587:p.Thr209Ser						p.T209S	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	690	-	Esophageal squamous(110;0.226)		209					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.625A>T	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	T	20.5	4.005659	0.74932	.	.	ENSG00000121297	ENST00000240587	T	0.20200	2.09	5.42	5.42	0.78866	.	0.055638	0.64402	D	0.000001	T	0.43897	0.1268	L	0.60455	1.87	0.80722	D	1	P	0.43857	0.819	D	0.66351	0.943	T	0.24512	-1.0158	10	0.56958	D	0.05	-26.7367	15.4586	0.75336	0.0:0.0:0.0:1.0	.	209	Q63HK5	TSH3_HUMAN	S	209	ENSP00000240587:T209S	ENSP00000240587:T209S	T	-	1	0	TSHZ3	36461914	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	7.694000	0.84235	2.030000	0.59900	0.533000	0.62120	ACG		PASS	0.627	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		28	118	28	118	---	---	---	---
SLC7A10	56301	broad.mit.edu	37	19	33703209	33703209	+	Silent	SNP	A	A	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr19:33703209A>T	ENST00000253188.4	-	5	923	c.777T>A	c.(775-777)gtT>gtA	p.V259V		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	259					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|D-alanine transport (GO:0042941)|D-serine transport (GO:0042942)|ion transport (GO:0006811)|L-serine transport (GO:0015825)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)	p.V259V(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					TTCGGGCGTCAACCATCTCCT	0.662																																						uc002num.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(775-777)GTT>GTA		solute carrier family 7, member 10							25.0	21.0	22.0					19																	33703209		2200	4300	6500	SO:0001819	synonymous_variant	56301				blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity	g.chr19:33703209A>T	AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876		"""Solute carriers"""	11058	protein-coding gene	gene with protein product		607959				10734121, 10863037	Standard	NM_019849		Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.777T>A	19.37:g.33703209A>T						SLC7A10_uc002nul.2_5'Flank|SLC7A10_uc010xrq.1_Silent_p.V232V	p.V259V	NM_019849	NP_062823	Q9NS82	AAA1_HUMAN			5	924	-	Esophageal squamous(110;0.137)		259					B2RE84	Silent	SNP	ENST00000253188.4	37	c.777T>A	CCDS12431.1																																																																																				PASS	0.662	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450846.2	NM_019849		15	15	15	15	---	---	---	---
GPI	2821	broad.mit.edu	37	19	34869911	34869911	+	Splice_Site	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr19:34869911G>A	ENST00000356487.5	+	7	946		c.e7+1		GPI_ENST00000586425.1_Splice_Site|GPI_ENST00000415930.3_Splice_Site	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase						aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					GGCCAAGGATGTGAGTGGGCT	0.582																																						uc002nvg.1																			1	Unknown(1)		lung(1)	ovary(1)|kidney(1)	2						c.e7+1		glucose phosphate isomerase							149.0	132.0	138.0					19																	34869911		2203	4300	6503	SO:0001630	splice_region_variant	2821				angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity	g.chr19:34869911G>A	M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"""glucose phosphate isomerase"""			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.705+1G>A	19.37:g.34869911G>A						GPI_uc002nvf.2_Splice_Site_p.D274_splice|GPI_uc010xrv.1_Splice_Site_p.D246_splice|GPI_uc010xrw.1_Splice_Site_p.D207_splice|GPI_uc010edl.1_Splice_Site_p.D235_splice	p.D235_splice	NM_000175	NP_000166	P06744	G6PI_HUMAN			7	808	+	Esophageal squamous(110;0.162)							B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Splice_Site	SNP	ENST00000356487.5	37	c.705_splice	CCDS12437.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218478	0.79464	.	.	ENSG00000105220	ENST00000415930;ENST00000356487	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6575	0.95849	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPI	39561751	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	9.456000	0.97628	2.728000	0.93425	0.650000	0.86243	.		PASS	0.582	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3		Intron	79	93	79	93	---	---	---	---
KIRREL2	84063	broad.mit.edu	37	19	36353460	36353460	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr19:36353460A>T	ENST00000360202.5	+	12	1774	c.1576A>T	c.(1576-1578)Atc>Ttc	p.I526F	KIRREL2_ENST00000347900.6_Missense_Mutation_p.I476F|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Missense_Mutation_p.I526F|KIRREL2_ENST00000592409.1_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	526					cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)		p.I526F(2)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTTATGGTCATCACTGGGGT	0.682																																						uc002ocb.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1576-1578)ATC>TTC		kin of IRRE-like 2 isoform c							115.0	114.0	114.0					19																	36353460		2203	4300	6503	SO:0001583	missense	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36353460A>T	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.1576A>T	19.37:g.36353460A>T	ENSP00000353331:p.Ile526Phe					KIRREL2_uc002obz.3_Missense_Mutation_p.I526F|KIRREL2_uc002oca.3_Missense_Mutation_p.I476F|KIRREL2_uc002occ.3_Missense_Mutation_p.I473F|KIRREL2_uc002ocd.3_Intron	p.I526F	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		12	1788	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		526			Helical; (Potential).		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	c.1576A>T	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.878926	0.51801	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658	T;T;T	0.66280	-0.2;0.03;-0.19	4.75	1.41	0.22369	.	0.178263	0.27231	N	0.020308	T	0.55353	0.1915	N	0.26042	0.785	0.36747	D	0.882562	D;D;D;D	0.63880	0.982;0.988;0.982;0.993	P;P;P;P	0.59424	0.745;0.723;0.802;0.857	T	0.55049	-0.8201	10	0.15499	T	0.54	-9.0331	6.7825	0.23654	0.706:0.0:0.294:0.0	.	506;526;476;526	Q6UWL6-4;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;KIRR2_HUMAN;.;.	F	526;476;526;506	ENSP00000262625:I526F;ENSP00000345067:I476F;ENSP00000353331:I526F	ENSP00000262625:I526F	I	+	1	0	KIRREL2	41045300	0.966000	0.33281	0.977000	0.42913	0.992000	0.81027	0.293000	0.19029	0.320000	0.23234	0.459000	0.35465	ATC		PASS	0.682	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		93	102	93	102	---	---	---	---
BCKDHA	593	broad.mit.edu	37	19	41903744	41903744	+	Silent	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr19:41903744G>T	ENST00000269980.2	+	1	380	c.12G>T	c.(10-12)gcG>gcT	p.A4A	CTC-435M10.3_ENST00000540732.1_Intron|CTC-435M10.10_ENST00000598988.1_RNA|CTC-435M10.3_ENST00000604424.1_Intron|EXOSC5_ENST00000221233.4_5'Flank|BCKDHA_ENST00000595085.1_Intron|EXOSC5_ENST00000596905.1_5'Flank|BCKDHA_ENST00000457836.2_Silent_p.A4A	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	4					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)	p.A4A(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						TGGCGGTAGCGATCGCTGCAG	0.622																																						uc002oqq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(10-12)GCG>GCT		branched chain keto acid dehydrogenase E1, alpha							41.0	38.0	39.0					19																	41903744		2203	4300	6503	SO:0001819	synonymous_variant	593				branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding	g.chr19:41903744G>T	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128	ENST00000269980.2:c.12G>T	19.37:g.41903744G>T						CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Intron|EXOSC5_uc002oqo.2_5'Flank|BCKDHA_uc002oqp.1_5'UTR|BCKDHA_uc002oqr.2_Silent_p.A4A|BCKDHA_uc010xvz.1_Silent_p.A4A	p.A4A	NM_000709	NP_000700	P12694	ODBA_HUMAN			1	41	+			4					B4DP47|E7EW46|Q16034|Q16472	Silent	SNP	ENST00000269980.2	37	c.12G>T	CCDS12581.1																																																																																				PASS	0.622	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709		13	28	13	28	---	---	---	---
CEACAM21	90273	broad.mit.edu	37	19	42092216	42092216	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr19:42092216A>G	ENST00000401445.2	+	6	900	c.874A>G	c.(874-876)Atc>Gtc	p.I292V	CEACAM21_ENST00000407170.2_Missense_Mutation_p.I164V|CEACAM21_ENST00000482870.2_Intron|CEACAM21_ENST00000187608.9_Missense_Mutation_p.I291V			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	292						integral component of membrane (GO:0016021)		p.I292V(2)		endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						TGACAGCTCCATCTCCTAGGT	0.597																																						uc002ore.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(874-876)ATC>GTC		carcinoembryonic antigen-related cell adhesion							67.0	71.0	70.0					19																	42092216		2114	4259	6373	SO:0001583	missense	90273					integral to membrane		g.chr19:42092216A>G	AK023602	CCDS46086.1, CCDS46087.1, CCDS74373.1	19q13.2	2013-01-29			ENSG00000007129	ENSG00000007129		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28834	protein-coding gene	gene with protein product						12477932	Standard	XM_005278397		Approved	R29124_1, FLJ13540	uc002ore.4	Q3KPI0	OTTHUMG00000151062	ENST00000401445.2:c.874A>G	19.37:g.42092216A>G	ENSP00000385739:p.Ile292Val					CEACAM21_uc002orc.1_RNA|CEACAM21_uc002ord.1_Intron|CEACAM21_uc002orf.2_RNA|CEACAM21_uc002org.3_Missense_Mutation_p.I291V	p.I292V	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN			6	970	+			292			Cytoplasmic (Potential).		B7WNQ6|O75296|Q6UY47|Q96ER7	Missense_Mutation	SNP	ENST00000401445.2	37	c.874A>G	CCDS46086.1	.	.	.	.	.	.	.	.	.	.	A	5.844	0.339955	0.11069	.	.	ENSG00000007129	ENST00000407170;ENST00000187608;ENST00000401445	T;T;T	0.31510	2.76;1.49;1.49	1.18	-2.36	0.06663	.	.	.	.	.	T	0.14141	0.0342	N	0.14661	0.345	0.09310	N	1	B;B	0.17852	0.024;0.014	B;B	0.08055	0.003;0.001	T	0.20538	-1.0272	9	0.87932	D	0	.	2.3115	0.04187	0.3913:0.3021:0.3066:0.0	.	291;292	Q3KPI0-2;Q3KPI0	.;CEA21_HUMAN	V	164;291;292	ENSP00000384380:I164V;ENSP00000187608:I291V;ENSP00000385739:I292V	ENSP00000187608:I291V	I	+	1	0	CEACAM21	46784056	0.000000	0.05858	0.000000	0.03702	0.200000	0.23975	-1.769000	0.01792	-0.815000	0.04346	0.104000	0.15600	ATC		PASS	0.597	CEACAM21-005	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321140.1	NM_033543		9	6	9	6	---	---	---	---
FBXO46	23403	broad.mit.edu	37	19	46216747	46216747	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr19:46216747G>A	ENST00000317683.3	-	2	140	c.7C>T	c.(7-9)Cgt>Tgt	p.R3C		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	3								p.R3C(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		AGGCTCCCACGGTCCATGCTG	0.647																																						uc002pcy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(7-9)CGT>TGT		F-box protein 46							18.0	22.0	21.0					19																	46216747		2088	4220	6308	SO:0001583	missense	23403						protein binding	g.chr19:46216747G>A	BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"""F-boxes /  ""other"""""	25069	protein-coding gene	gene with protein product		609117	"""F-box only protein 34-like"""	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.7C>T	19.37:g.46216747G>A	ENSP00000410007:p.Arg3Cys					FBXO46_uc002pcz.2_Missense_Mutation_p.R3C	p.R3C	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)	2	132	-		Ovarian(192;0.179)|all_neural(266;0.224)	3						Missense_Mutation	SNP	ENST00000317683.3	37	c.7C>T	CCDS46116.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.391029	0.25118	.	.	ENSG00000177051	ENST00000317683	.	.	.	3.8	2.72	0.32119	.	.	.	.	.	T	0.48169	0.1485	N	0.22421	0.69	0.53688	D	0.999972	D	0.71674	0.998	P	0.53954	0.738	T	0.49925	-0.8887	8	0.72032	D	0.01	-13.0529	10.1617	0.42855	0.0:0.0:0.7907:0.2093	.	3	Q6PJ61	FBX46_HUMAN	C	3	.	ENSP00000410007:R3C	R	-	1	0	FBXO46	50908587	1.000000	0.71417	0.925000	0.36789	0.298000	0.27526	5.322000	0.65852	0.876000	0.35872	0.557000	0.71058	CGT		PASS	0.647	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459661.1	XM_371179		6	14	6	14	---	---	---	---
LRRC4B	94030	broad.mit.edu	37	19	51021727	51021727	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr19:51021727C>T	ENST00000599957.1	-	3	1440	c.1243G>A	c.(1243-1245)Gtc>Atc	p.V415I	LRRC4B_ENST00000389201.3_Missense_Mutation_p.V415I			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	415	Ig-like C2-type.				positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.V415I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TCATGCAGGACGGAGATGCGC	0.637																																						uc002pss.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1243-1245)GTC>ATC		leucine rich repeat containing 4B precursor							64.0	72.0	69.0					19																	51021727		2196	4279	6475	SO:0001583	missense	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51021727C>T	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1243G>A	19.37:g.51021727C>T	ENSP00000471502:p.Val415Ile						p.V415I	NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	1380	-		all_neural(266;0.131)	415			Extracellular (Potential).|Ig-like C2-type.		Q3ZCQ4|Q58F20	Missense_Mutation	SNP	ENST00000599957.1	37	c.1243G>A	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856074	0.71834	.	.	ENSG00000131409	ENST00000389201	T	0.26518	1.73	3.56	3.56	0.40772	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000006	T	0.28566	0.0707	N	0.21617	0.685	0.51233	D	0.999912	P	0.43750	0.816	P	0.52957	0.714	T	0.09100	-1.0690	10	0.62326	D	0.03	.	13.0396	0.58891	0.0:1.0:0.0:0.0	.	415	Q9NT99	LRC4B_HUMAN	I	415	ENSP00000373853:V415I	ENSP00000373853:V415I	V	-	1	0	LRRC4B	55713539	1.000000	0.71417	0.875000	0.34327	0.982000	0.71751	7.636000	0.83301	2.001000	0.58596	0.462000	0.41574	GTC		PASS	0.637	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		20	71	20	71	---	---	---	---
ZNF350	59348	broad.mit.edu	37	19	52468196	52468196	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr19:52468196C>A	ENST00000243644.4	-	5	1737	c.1510G>T	c.(1510-1512)Gca>Tca	p.A504S	HCCAT3_ENST00000600253.1_RNA|HCCAT3_ENST00000595010.1_RNA|ZNF350_ENST00000600703.1_5'Flank	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	504					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A504S(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		CTGTCCTGTGCAAATCCTCTG	0.453																																						uc002pyd.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1510-1512)GCA>TCA		zinc finger protein 350							114.0	96.0	102.0					19																	52468196		2203	4300	6503	SO:0001583	missense	59348				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	g.chr19:52468196C>A	AF295096	CCDS12845.1	19q13.41	2013-05-23			ENSG00000256683	ENSG00000256683		"""Zinc fingers, C2H2-type"", ""-"""	16656	protein-coding gene	gene with protein product		605422				11090615, 11161714	Standard	NM_021632		Approved	ZBRK1, ZFQR	uc002pyd.3	Q9GZX5	OTTHUMG00000182538	ENST00000243644.4:c.1510G>T	19.37:g.52468196C>A	ENSP00000243644:p.Ala504Ser					uc002pyb.2_Intron|uc002pyc.2_Intron	p.A504S	NM_021632	NP_067645	Q9GZX5	ZN350_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)	5	1738	-		all_neural(266;0.0505)	504					Q96G73|Q9HAQ4	Missense_Mutation	SNP	ENST00000243644.4	37	c.1510G>T	CCDS12845.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830477	0.50845	.	.	ENSG00000256683	ENST00000243644	T	0.05786	3.39	3.74	-2.34	0.06704	.	0.552397	0.13746	N	0.365640	T	0.02888	0.0086	L	0.27053	0.805	0.22552	N	0.998997	B	0.18461	0.028	B	0.14023	0.01	T	0.46386	-0.9195	10	0.02654	T	1	.	4.2666	0.10766	0.1762:0.2254:0.0:0.5983	.	504	Q9GZX5	ZN350_HUMAN	S	504	ENSP00000243644:A504S	ENSP00000243644:A504S	A	-	1	0	ZNF350	57160008	0.075000	0.21258	0.006000	0.13384	0.797000	0.45037	0.157000	0.16402	-0.295000	0.08960	0.591000	0.81541	GCA		PASS	0.453	ZNF350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462278.1	NM_021632		26	88	26	88	---	---	---	---
PRKCG	5582	broad.mit.edu	37	19	54403943	54403943	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr19:54403943C>A	ENST00000263431.3	+	14	1797	c.1515C>A	c.(1513-1515)aaC>aaA	p.N505K	PRKCG_ENST00000540413.1_Missense_Mutation_p.N505K|PRKCG_ENST00000542049.1_Missense_Mutation_p.N392K	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	505	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)	p.N505K(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	GTAAGGAGAACGTCTTCCCCG	0.587																																						uc002qcq.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9						c.(1513-1515)AAC>AAA		protein kinase C, gamma							242.0	232.0	236.0					19																	54403943		2203	4300	6503	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54403943C>A	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.1515C>A	19.37:g.54403943C>A	ENSP00000263431:p.Asn505Lys					PRKCG_uc010yeg.1_Missense_Mutation_p.N505K|PRKCG_uc010yeh.1_Missense_Mutation_p.N392K	p.N505K	NM_002739	NP_002730	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	14	1797	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		505			Protein kinase.		B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.1515C>A	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	c	16.27	3.076402	0.55753	.	.	ENSG00000126583	ENST00000540413;ENST00000263431;ENST00000542049	T;T;T	0.64260	-0.09;-0.09;-0.09	4.24	-2.79	0.05841	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.62258	0.2413	L	0.31065	0.9	0.45648	D	0.998576	D;D;D	0.71674	0.959;0.997;0.998	P;D;D	0.71184	0.586;0.955;0.972	T	0.62077	-0.6930	9	0.72032	D	0.01	.	8.8334	0.35098	0.0:0.4745:0.0:0.5255	.	392;505;505	B7Z8Q0;F5H5C4;P05129	.;.;KPCG_HUMAN	K	505;505;392	ENSP00000443493:N505K;ENSP00000263431:N505K;ENSP00000438090:N392K	ENSP00000263431:N505K	N	+	3	2	PRKCG	59095755	0.756000	0.28383	0.979000	0.43373	0.908000	0.53690	-0.031000	0.12287	-0.687000	0.05162	-1.212000	0.01626	AAC		PASS	0.587	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		138	433	138	433	---	---	---	---
LILRA6	79168	broad.mit.edu	37	19	54744980	54744980	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr19:54744980G>T	ENST00000396365.2	-	5	721	c.682C>A	c.(682-684)Ctg>Atg	p.L228M	LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.L228M|LILRA6_ENST00000440558.2_Missense_Mutation_p.L228M|LILRA6_ENST00000419410.2_Missense_Mutation_p.L228M	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	228	Ig-like C2-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.L228M(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGCAGGGTCAGGAGGGAGGGC	0.637																																						uc002qeu.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(682-684)CTG>ATG		leukocyte immunoglobulin-like receptor,							22.0	26.0	25.0					19																	54744980		2200	4291	6491	SO:0001583	missense	79168					integral to membrane	receptor activity	g.chr19:54744980G>T	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.682C>A	19.37:g.54744980G>T	ENSP00000379651:p.Leu228Met					LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Missense_Mutation_p.L228M|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Missense_Mutation_p.L228M|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.L228M|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Missense_Mutation_p.L228M|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Missense_Mutation_p.L228M|LILRA6_uc010yeq.1_Missense_Mutation_p.L228M|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Missense_Mutation_p.L89M	p.L228M	NM_024318	NP_077294	Q6PI73	LIRA6_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	5	806	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		228			Extracellular (Potential).|Ig-like C2-type 1.			Missense_Mutation	SNP	ENST00000396365.2	37	c.682C>A	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.432660	0.25813	.	.	ENSG00000244482	ENST00000440558;ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	2.42	-0.463	0.12164	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.042900	0.07663	N	0.934121	T	0.45836	0.1362	M	0.87827	2.91	0.09310	N	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.83275	0.986;0.996;0.976;0.995	T	0.23726	-1.0180	10	0.48119	T	0.1	.	4.6079	0.12387	0.4752:0.0:0.5248:0.0	.	228;228;228;228	C9JFH3;Q6PI73;F8WCY4;D3YTC4	.;LIRA6_HUMAN;.;.	M	228	ENSP00000390120:L228M;ENSP00000411227:L228M;ENSP00000379651:L228M;ENSP00000245621:L228M	ENSP00000245621:L228M	L	-	1	2	LILRA6	59436792	0.003000	0.15002	0.002000	0.10522	0.111000	0.19643	-0.100000	0.10990	-0.044000	0.13491	0.174000	0.16983	CTG		PASS	0.637	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		14	48	14	48	---	---	---	---
LENG8	114823	broad.mit.edu	37	19	54969376	54969376	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr19:54969376G>A	ENST00000326764.5	+	14	2476	c.1997G>A	c.(1996-1998)cGa>cAa	p.R666Q	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	629								p.R666Q(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		ACTGCCTACCGAATCCTCTAC	0.567																																						uc002qfv.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(1885-1887)CGA>CAA		RecName: Full=Leukocyte receptor cluster member 8;							87.0	81.0	83.0					19																	54969376		2203	4300	6503	SO:0001583	missense	114823						protein binding	g.chr19:54969376G>A	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.1997G>A	19.37:g.54969376G>A	ENSP00000318374:p.Arg666Gln					LENG8_uc002qfw.2_Missense_Mutation_p.R666Q	p.R629Q			Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	13	2030	+	Ovarian(34;0.19)		629					B0VJY9|Q8IZ27|Q8NCX6	Missense_Mutation	SNP	ENST00000326764.5	37	c.1886G>A	CCDS12894.1	.	.	.	.	.	.	.	.	.	.	G	32	5.134977	0.94517	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000376526;ENST00000431846	T;T;T	0.33438	1.41;1.41;1.41	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.62221	0.2410	M	0.88031	2.925	0.80722	D	1	D;P	0.89917	1.0;0.922	D;P	0.74348	0.983;0.466	T	0.69672	-0.5082	10	0.72032	D	0.01	-35.0322	16.5215	0.84318	0.0:0.0:1.0:0.0	.	666;629	Q96PV6-2;F8W9Q9	.;.	Q	666;629;629;666	ENSP00000318374:R666Q;ENSP00000365709:R629Q;ENSP00000388053:R666Q	ENSP00000301196:R629Q	R	+	2	0	LENG8	59661188	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	8.732000	0.91534	2.582000	0.87167	0.561000	0.74099	CGA		PASS	0.567	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925		72	85	72	85	---	---	---	---
ZNF549	256051	broad.mit.edu	37	19	58050032	58050032	+	Nonsense_Mutation	SNP	G	G	T	rs140955096		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr19:58050032G>T	ENST00000376233.3	+	4	1841	c.1660G>T	c.(1660-1662)Gaa>Taa	p.E554*	ZNF549_ENST00000240719.3_Nonsense_Mutation_p.E541*|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	554					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E541*(1)|p.E554*(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCACACTGGCGAAAAGCCCTG	0.448																																						uc002qpb.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(1660-1662)GAA>TAA		zinc finger protein 549							66.0	70.0	69.0					19																	58050032		2203	4300	6503	SO:0001587	stop_gained	256051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58050032G>T	AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"""Zinc fingers, C2H2-type"", ""-"""	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.1660G>T	19.37:g.58050032G>T	ENSP00000365407:p.Glu554*					ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Nonsense_Mutation_p.E541*	p.E554*	NM_153263	NP_694995	Q6P9A3	ZN549_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1909	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	554					B3KV91|O43336|Q8NAR4	Nonsense_Mutation	SNP	ENST00000376233.3	37	c.1660G>T	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	G	38	7.152989	0.98099	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	.	.	.	2.5	2.5	0.30297	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	10.7034	0.45942	0.0:0.0:1.0:0.0	.	.	.	.	X	541;554	.	ENSP00000240719:E541X	E	+	1	0	ZNF549	62741844	0.501000	0.26099	0.038000	0.18304	0.989000	0.77384	2.578000	0.46051	1.400000	0.46741	0.585000	0.79938	GAA		PASS	0.448	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263		34	102	34	102	---	---	---	---
PRND	23627	broad.mit.edu	37	20	4705465	4705465	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr20:4705465C>G	ENST00000305817.2	+	2	339	c.268C>G	c.(268-270)Cac>Gac	p.H90D		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	90	Globular.				protein homooligomerization (GO:0051260)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.H90D(1)		breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						CGATGGCATCCACTACAACGG	0.592																																						uc002wkz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(268-270)CAC>GAC		prion-like protein doppel preproprotein							70.0	57.0	61.0					20																	4705465		2203	4300	6503	SO:0001583	missense	23627				protein homooligomerization	anchored to membrane|plasma membrane		g.chr20:4705465C>G	AF106918	CCDS13081.1	20p13	2013-09-19			ENSG00000171864	ENSG00000171864			15748	protein-coding gene	gene with protein product	"""prion-like protein doppel"""	604263				10525406, 10577243	Standard	NM_012409		Approved	DPL, dJ1068H6.4, DOPPEL, PrPLP	uc002wkz.3	Q9UKY0	OTTHUMG00000031789	ENST00000305817.2:c.268C>G	20.37:g.4705465C>G	ENSP00000306900:p.His90Asp						p.H90D	NM_012409	NP_036541	Q9UKY0	PRND_HUMAN			2	339	+			90			Globular.		A7U7M5|Q9H311|Q9H312|Q9NTM4	Missense_Mutation	SNP	ENST00000305817.2	37	c.268C>G	CCDS13081.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.488431	0.64074	.	.	ENSG00000171864	ENST00000305817	T	0.25250	1.81	5.37	2.17	0.27698	Prion/Doppel protein, beta-ribbon domain (3);	0.148335	0.31020	N	0.008403	T	0.36580	0.0972	L	0.52905	1.665	0.26810	N	0.969025	D	0.71674	0.998	D	0.65684	0.937	T	0.09596	-1.0667	10	0.72032	D	0.01	-16.3233	4.7223	0.12924	0.0:0.6313:0.1785:0.1902	.	90	Q9UKY0	PRND_HUMAN	D	90	ENSP00000306900:H90D	ENSP00000306900:H90D	H	+	1	0	PRND	4653465	0.972000	0.33761	0.999000	0.59377	0.990000	0.78478	0.016000	0.13377	0.615000	0.30124	0.557000	0.71058	CAC		PASS	0.592	PRND-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077827.2	NM_012409		18	9	18	9	---	---	---	---
RRBP1	6238	broad.mit.edu	37	20	17594839	17594839	+	Silent	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr20:17594839G>A	ENST00000377813.1	-	25	4524	c.4221C>T	c.(4219-4221)ggC>ggT	p.G1407G	RRBP1_ENST00000455029.2_Silent_p.G748G|RRBP1_ENST00000470422.1_5'UTR|RRBP1_ENST00000246043.4_Silent_p.G1407G|RRBP1_ENST00000377807.2_Silent_p.G974G|RRBP1_ENST00000360807.4_Silent_p.G974G			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1407					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)	p.G974G(1)|p.G1407G(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						AGACAGAGGTGCCCTCCTTTG	0.532																																						uc002wpv.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(2920-2922)GGC>GGT		ribosome binding protein 1							100.0	105.0	103.0					20																	17594839		2203	4300	6503	SO:0001819	synonymous_variant	6238				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	g.chr20:17594839G>A	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.4221C>T	20.37:g.17594839G>A						RRBP1_uc010zrp.1_Silent_p.G147G|RRBP1_uc002wpt.1_Silent_p.G343G|RRBP1_uc002wpu.2_Silent_p.G748G|RRBP1_uc002wpw.1_Silent_p.G974G|RRBP1_uc010gcl.1_Silent_p.G748G	p.G974G	NM_001042576	NP_001036041	Q9P2E9	RRBP1_HUMAN			26	3276	-			1407			Cytoplasmic (Potential).		A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Silent	SNP	ENST00000377813.1	37	c.2922C>T																																																																																					PASS	0.532	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		16	61	16	61	---	---	---	---
SPAG4	6676	broad.mit.edu	37	20	34203979	34203979	+	Silent	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr20:34203979C>A	ENST00000374273.3	+	1	166	c.54C>A	c.(52-54)ccC>ccA	p.P18P		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	18					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)	p.P18P(1)		NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			AGCACACGCCCAACTTTTTCA	0.672																																						uc002xdb.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(52-54)CCC>CCA		sperm associated antigen 4							24.0	26.0	25.0					20																	34203979		2199	4292	6491	SO:0001819	synonymous_variant	6676				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity	g.chr20:34203979C>A	AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"""acrosomal protein ACR55"", ""Sad1 and UNC84 domain containing 4"", ""cancer/testis antigen 127"""	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.54C>A	20.37:g.34203979C>A						SPAG4_uc010zvi.1_5'UTR	p.P18P	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0127)		1	171	+	Lung NSC(9;0.0053)|all_lung(11;0.00785)		18					O43648	Silent	SNP	ENST00000374273.3	37	c.54C>A	CCDS13259.1																																																																																				PASS	0.672	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078896.1	NM_003116		15	20	15	20	---	---	---	---
SLA2	84174	broad.mit.edu	37	20	35242818	35242818	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr20:35242818G>T	ENST00000262866.4	-	7	977	c.555C>A	c.(553-555)tgC>tgA	p.C185*	SLA2_ENST00000360672.2_Intron	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2	185	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				antigen receptor-mediated signaling pathway (GO:0050851)|B cell mediated immunity (GO:0019724)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of B cell activation (GO:0050869)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of signal transduction (GO:0009967)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|late endosome (GO:0005770)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)|SH3/SH2 adaptor activity (GO:0005070)	p.C185*(1)		endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				CCTTGAGTAGGCAGCAGATGT	0.592																																					Ovarian(59;720 1165 26994 46188 51693)	uc002xfv.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(553-555)TGC>TGA		Src-like-adaptor 2 isoform a							109.0	96.0	100.0					20																	35242818		2203	4300	6503	SO:0001587	stop_gained	84174				antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	protein N-terminus binding|SH3/SH2 adaptor activity	g.chr20:35242818G>T	AF326353	CCDS13282.1, CCDS13283.1	20q11.23	2013-02-14			ENSG00000101082	ENSG00000101082		"""SH2 domain containing"""	17329	protein-coding gene	gene with protein product		606577		C20orf156		11696592	Standard	NM_032214		Approved	FLJ21992, SLAP-2	uc002xfv.3	Q9H6Q3	OTTHUMG00000032393	ENST00000262866.4:c.555C>A	20.37:g.35242818G>T	ENSP00000262866:p.Cys185*					SLA2_uc002xfu.2_Intron	p.C185*	NM_032214	NP_115590	Q9H6Q3	SLAP2_HUMAN			7	917	-	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)	185			SH2.		A8K648|E1P5U1|E1P5U2|Q5TH27|Q5TH28|Q8WY18|Q96QI4|Q9H135	Nonsense_Mutation	SNP	ENST00000262866.4	37	c.555C>A	CCDS13282.1	.	.	.	.	.	.	.	.	.	.	G	38	7.103693	0.98066	.	.	ENSG00000101082	ENST00000262866	.	.	.	5.43	3.48	0.39840	.	0.048309	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-27.0676	9.3591	0.38184	0.1629:0.0:0.8371:0.0	.	.	.	.	X	185	.	ENSP00000262866:C185X	C	-	3	2	SLA2	34676232	0.991000	0.36638	0.991000	0.47740	0.998000	0.95712	2.154000	0.42291	0.838000	0.34948	0.655000	0.94253	TGC		PASS	0.592	SLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079037.2	NM_175077		50	66	50	66	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61513191	61513191	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr20:61513191C>A	ENST00000266070.4	-	16	4442	c.4117G>T	c.(4117-4119)Gat>Tat	p.D1373Y	DIDO1_ENST00000395343.1_Missense_Mutation_p.D1373Y	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1373					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.D1373Y(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AGAGCCTTATCTTTTGAGAAC	0.607																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)	6						c.(4117-4119)GAT>TAT		death inducer-obliterator 1 isoform c							100.0	114.0	109.0					20																	61513191		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61513191C>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4117G>T	20.37:g.61513191C>A	ENSP00000266070:p.Asp1373Tyr					DIDO1_uc002yds.1_Missense_Mutation_p.D1373Y	p.D1373Y	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			16	4381	-	Breast(26;5.68e-08)		1373					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.4117G>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.872275	0.51695	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.12465	2.68;2.68	5.13	5.13	0.70059	.	0.531595	0.15145	N	0.278062	T	0.32941	0.0846	M	0.73962	2.25	0.80722	D	1	D	0.61080	0.989	P	0.52710	0.707	T	0.13388	-1.0511	10	0.87932	D	0	-9.0162	18.9563	0.92659	0.0:1.0:0.0:0.0	.	1373	Q9BTC0	DIDO1_HUMAN	Y	1373	ENSP00000266070:D1373Y;ENSP00000378752:D1373Y	ENSP00000266070:D1373Y	D	-	1	0	DIDO1	60983636	1.000000	0.71417	0.089000	0.20774	0.028000	0.11728	4.437000	0.59955	2.551000	0.86045	0.563000	0.77884	GAT		PASS	0.607	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		81	87	81	87	---	---	---	---
ADAMTS5	11096	broad.mit.edu	37	21	28338313	28338313	+	Missense_Mutation	SNP	C	C	T	rs555492491		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr21:28338313C>T	ENST00000284987.5	-	1	519	c.398G>A	c.(397-399)cGg>cAg	p.R133Q		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	133					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R133Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CACTGTGCCCCGATAGAAGCA	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		14747	0.0		0.0	False		,,,				2504	0.001				Esophageal Squamous(53;683 1080 10100 14424 45938)	uc002ymg.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(397-399)CGG>CAG		ADAM metallopeptidase with thrombospondin type 1							29.0	26.0	27.0					21																	28338313		2203	4300	6503	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28338313C>T	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.398G>A	21.37:g.28338313C>T	ENSP00000284987:p.Arg133Gln						p.R133Q	NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN			1	1127	-			133					Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.398G>A	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533315	0.85812	.	.	ENSG00000154736	ENST00000284987	T	0.05513	3.43	4.57	4.57	0.56435	Peptidase M12B, propeptide (1);	0.000000	0.85682	D	0.000000	T	0.14787	0.0357	L	0.35723	1.085	0.38750	D	0.954095	D	0.89917	1.0	D	0.85130	0.997	T	0.21690	-1.0238	10	0.11485	T	0.65	.	16.3096	0.82864	0.0:1.0:0.0:0.0	.	133	Q9UNA0	ATS5_HUMAN	Q	133	ENSP00000284987:R133Q	ENSP00000284987:R133Q	R	-	2	0	ADAMTS5	27260184	1.000000	0.71417	0.985000	0.45067	0.852000	0.48524	4.355000	0.59424	2.344000	0.79699	0.563000	0.77884	CGG		PASS	0.652	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			5	17	5	17	---	---	---	---
KRTAP26-1	388818	broad.mit.edu	37	21	31692350	31692350	+	Missense_Mutation	SNP	A	A	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr21:31692350A>C	ENST00000360542.3	-	1	257	c.4T>G	c.(4-6)Tct>Gct	p.S2A		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	2						intermediate filament (GO:0005882)		p.S2A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						TTGGGGCAAGACATAGTGAGG	0.507																																						uc002ynw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(4-6)TCT>GCT		keratin associated protein 26-1							29.0	32.0	31.0					21																	31692350		2200	4296	6496	SO:0001583	missense	388818					intermediate filament		g.chr21:31692350A>C	AB096936	CCDS13588.1	21q22.11	2007-11-23			ENSG00000197683	ENSG00000197683		"""Keratin associated proteins"""	33760	protein-coding gene	gene with protein product							Standard	NM_203405		Approved		uc002ynw.3	Q6PEX3	OTTHUMG00000057766	ENST00000360542.3:c.4T>G	21.37:g.31692350A>C	ENSP00000353742:p.Ser2Ala						p.S2A	NM_203405	NP_981950	Q6PEX3	KR261_HUMAN			1	258	-			2					B0RZD3	Missense_Mutation	SNP	ENST00000360542.3	37	c.4T>G	CCDS13588.1	.	.	.	.	.	.	.	.	.	.	A	11.08	1.532200	0.27387	.	.	ENSG00000197683	ENST00000360542	T	0.14391	2.51	4.95	2.45	0.29901	.	1.464380	0.04586	U	0.395834	T	0.05135	0.0137	N	0.02011	-0.69	0.19775	N	0.99995	P	0.41366	0.747	B	0.39660	0.306	T	0.22626	-1.0211	10	0.07325	T	0.83	-6.7924	5.4539	0.16580	0.7317:0.1746:0.0937:0.0	.	2	Q6PEX3	KR261_HUMAN	A	2	ENSP00000353742:S2A	ENSP00000353742:S2A	S	-	1	0	KRTAP26-1	30614221	0.999000	0.42202	0.997000	0.53966	0.772000	0.43724	0.308000	0.19314	0.382000	0.24878	0.533000	0.62120	TCT		PASS	0.507	KRTAP26-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128218.1	NM_203405		5	14	5	14	---	---	---	---
DOPEY2	9980	broad.mit.edu	37	21	37618123	37618123	+	Missense_Mutation	SNP	T	T	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr21:37618123T>G	ENST00000399151.3	+	19	3930	c.3845T>G	c.(3844-3846)cTc>cGc	p.L1282R		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1282					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)		p.L1282R(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCCAACCTCCTCGCTCGCCAC	0.592																																						uc002yvg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(3844-3846)CTC>CGC		pad-1-like							64.0	65.0	65.0					21																	37618123		2203	4300	6503	SO:0001583	missense	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37618123T>G	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.3845T>G	21.37:g.37618123T>G	ENSP00000382104:p.Leu1282Arg					DOPEY2_uc011aeb.1_Missense_Mutation_p.L1231R|DOPEY2_uc002yvh.2_Missense_Mutation_p.L133R	p.L1282R	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN			19	3924	+			1282					D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	c.3845T>G	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	T	18.65	3.669353	0.67814	.	.	ENSG00000142197	ENST00000399151	T	0.52057	0.68	4.62	4.62	0.57501	.	0.000000	0.64402	D	0.000001	T	0.71221	0.3314	M	0.85542	2.76	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.77416	-0.2596	10	0.87932	D	0	.	14.3435	0.66643	0.0:0.0:0.0:1.0	.	1282;1282	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	R	1282	ENSP00000382104:L1282R	ENSP00000382104:L1282R	L	+	2	0	DOPEY2	36539993	0.998000	0.40836	0.818000	0.32626	0.885000	0.51271	7.498000	0.81546	1.863000	0.54032	0.533000	0.62120	CTC		PASS	0.592	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		48	38	48	38	---	---	---	---
DYRK1A	1859	broad.mit.edu	37	21	38862669	38862669	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr21:38862669G>A	ENST00000398960.2	+	6	932	c.857G>A	c.(856-858)tGt>tAt	p.C286Y	DYRK1A_ENST00000339659.4_Missense_Mutation_p.C277Y|DYRK1A_ENST00000398956.2_Missense_Mutation_p.C286Y|DYRK1A_ENST00000321219.8_Missense_Mutation_p.C286Y|DYRK1A_ENST00000338785.3_Missense_Mutation_p.C286Y|DYRK1A_ENST00000455387.2_Missense_Mutation_p.C58Y|DYRK1A_ENST00000451934.1_Missense_Mutation_p.C286Y	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	286	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)	p.C286Y(1)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ATCATTCACTGTGATCTAAAA	0.438																																					Melanoma(114;464 1602 31203 43785 45765)	uc002ywk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|breast(1)	4						c.(856-858)TGT>TAT		dual-specificity tyrosine-(Y)-phosphorylation							100.0	93.0	95.0					21																	38862669		2203	4300	6503	SO:0001583	missense	1859				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	g.chr21:38862669G>A	U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.857G>A	21.37:g.38862669G>A	ENSP00000381932:p.Cys286Tyr					DYRK1A_uc002ywi.2_Missense_Mutation_p.C286Y|DYRK1A_uc002ywj.2_Missense_Mutation_p.C277Y|DYRK1A_uc002ywl.2_Missense_Mutation_p.C286Y|DYRK1A_uc002ywm.2_Missense_Mutation_p.C286Y|DYRK1A_uc011aei.1_Missense_Mutation_p.C47Y	p.C286Y	NM_001396	NP_001387	Q13627	DYR1A_HUMAN			6	932	+			286			Protein kinase.		O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	37	c.857G>A	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.940141	0.92526	.	.	ENSG00000157540	ENST00000338785;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956;ENST00000455387	T;T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08;2.08	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.084621	0.85682	D	0.000000	T	0.60881	0.2303	M	0.93507	3.425	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.70110	-0.4962	10	0.87932	D	0	.	20.2989	0.98608	0.0:0.0:1.0:0.0	.	286;286;286;277;286	Q13627-3;Q13627-4;Q13627;Q13627-2;Q13627-5	.;.;DYR1A_HUMAN;.;.	Y	286;277;286;286;286;286;58	ENSP00000342690:C286Y;ENSP00000340373:C277Y;ENSP00000319032:C286Y;ENSP00000416089:C286Y;ENSP00000381932:C286Y;ENSP00000381929:C286Y;ENSP00000407854:C58Y	ENSP00000319032:C286Y	C	+	2	0	DYRK1A	37784539	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.767000	0.98960	2.794000	0.96219	0.573000	0.79308	TGT		PASS	0.438	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396		47	49	47	49	---	---	---	---
RIPK4	54101	broad.mit.edu	37	21	43161625	43161625	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr21:43161625G>T	ENST00000352483.2	-	9	1936	c.1872C>A	c.(1870-1872)taC>taA	p.Y624*	AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000544709.1_Nonsense_Mutation_p.Y513*|RIPK4_ENST00000332512.3_Nonsense_Mutation_p.Y576*|RIPK4_ENST00000542057.1_Nonsense_Mutation_p.Y513*			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	624					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Y576*(1)|p.Y624*(1)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCCAGGCAGCGTAGTGCAGTG	0.672																																						uc002yzn.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(1726-1728)TAC>TAA		ankyrin repeat domain 3							43.0	42.0	42.0					21																	43161625		2201	4298	6499	SO:0001587	stop_gained	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161625G>T	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1872C>A	21.37:g.43161625G>T	ENSP00000330161:p.Tyr624*						p.Y576*	NM_020639	NP_065690	P57078	RIPK4_HUMAN			8	1776	-			576					Q96KH0	Nonsense_Mutation	SNP	ENST00000352483.2	37	c.1728C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.84|18.84	3.708251|3.708251	0.68615|0.68615	.|.	.|.	ENSG00000183421|ENSG00000183421	ENST00000330470|ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	.|.	.|.	.|.	4.89|4.89	-6.37|-6.37	0.01963|0.01963	.|.	.|0.000000	.|0.56097	.|D	.|0.000028	T|.	0.69405|.	0.3107|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.74722|.	-0.3569|.	5|.	0.72032|0.72032	D|D	0.01|0.01	-30.8185|-30.8185	15.404|15.404	0.74863|0.74863	0.4583:0.0:0.5417:0.0|0.4583:0.0:0.5417:0.0	.|.	.|.	.|.	.|.	K|X	314|576;624;513;513	.|.	ENSP00000330975:T314K|ENSP00000332454:Y576X	T|Y	-|-	2|3	0|2	RIPK4|RIPK4	42034694|42034694	0.001000|0.001000	0.12720|0.12720	0.599000|0.599000	0.28851|0.28851	0.507000|0.507000	0.33981|0.33981	-1.449000|-1.449000	0.02392|0.02392	-1.533000|-1.533000	0.01745|0.01745	-1.434000|-1.434000	0.01081|0.01081	ACG|TAC		PASS	0.672	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		30	40	30	40	---	---	---	---
IGLV2-8	28817	broad.mit.edu	37	22	23165557	23165557	+	RNA	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr22:23165557G>T	ENST00000390317.2	+	0	290				MIR650_ENST00000385101.1_RNA					immunoglobulin lambda variable 2-8																		TCCTGCACTGGAACCAGCAGT	0.572																																						uc011aim.1																			0					0								Parts of antibodies, mostly variable regions.							205.0	213.0	210.0					22																	23165557		2039	4179	6218			96610							g.chr22:23165557G>T	X97462		22q11.2	2012-02-08			ENSG00000211671	ENSG00000278196		"""Immunoglobulins / IGL locus"""	5895	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151240		22.37:g.23165557G>T														287		+									RNA	SNP	ENST00000390317.2	37	c.13119G>T																																																																																					PASS	0.572	IGLV2-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321845.1	NG_000002		154	323	154	323	---	---	---	---
APOL5	80831	broad.mit.edu	37	22	36124888	36124888	+	Silent	SNP	A	A	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr22:36124888A>T	ENST00000249044.2	+	4	1245	c.1245A>T	c.(1243-1245)ccA>ccT	p.P415P		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	415					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)	p.P415P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						GCCACCAGCCAGCCCCACCAG	0.627																																						uc003aof.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1243-1245)CCA>CCT		apolipoprotein L5							73.0	66.0	68.0					22																	36124888		2203	4300	6503	SO:0001819	synonymous_variant	80831				lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding	g.chr22:36124888A>T	AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"""Apolipoproteins"""	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.1245A>T	22.37:g.36124888A>T							p.P415P	NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN			4	1245	+			415					Q5TFL9|Q9UGW5	Silent	SNP	ENST00000249044.2	37	c.1245A>T	CCDS13920.1																																																																																				PASS	0.627	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	NM_030642		11	33	11	33	---	---	---	---
ELFN2	114794	broad.mit.edu	37	22	37769709	37769709	+	Silent	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr22:37769709C>A	ENST00000402918.2	-	3	2651	c.1866G>T	c.(1864-1866)gcG>gcT	p.A622A	RP1-63G5.5_ENST00000430883.1_RNA|RP1-63G5.8_ENST00000609322.1_RNA|ELFN2_ENST00000435824.1_5'Flank	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	622					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)	p.A622A(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GGGTCACGGCCGCGTCGGCGC	0.687																																						uc003asq.3																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1864-1866)GCG>GCT		leucine rich repeat containing 62							12.0	11.0	11.0					22																	37769709		2136	4171	6307	SO:0001819	synonymous_variant	114794					cell surface|integral to membrane		g.chr22:37769709C>A	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.1866G>T	22.37:g.37769709C>A							p.A622A	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN			3	2652	-	Melanoma(58;0.0574)		622			Cytoplasmic (Potential).		Q96PY3	Silent	SNP	ENST00000402918.2	37	c.1866G>T	CCDS33642.1																																																																																				PASS	0.687	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		5	11	5	11	---	---	---	---
CBX6	23466	broad.mit.edu	37	22	39262445	39262445	+	Silent	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr22:39262445G>A	ENST00000407418.3	-	5	1131	c.1008C>T	c.(1006-1008)gcC>gcT	p.A336A	CBX6_ENST00000216083.6_Silent_p.A318A			O95503	CBX6_HUMAN	chromobox homolog 6	336					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	single-stranded RNA binding (GO:0003727)	p.A336A(1)		large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					GTGCCGGGCCGGCAGCAGCTG	0.746																																						uc003awl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1006-1008)GCC>GCT		chromobox homolog 6							9.0	12.0	11.0					22																	39262445		2167	4203	6370	SO:0001819	synonymous_variant	23466				chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex		g.chr22:39262445G>A		CCDS13980.1	22q13.1	2013-04-23			ENSG00000183741	ENSG00000183741			1556	protein-coding gene	gene with protein product							Standard	NM_014292		Approved		uc003awl.3	O95503	OTTHUMG00000150456	ENST00000407418.3:c.1008C>T	22.37:g.39262445G>A							p.A336A	NM_014292	NP_055107	O95503	CBX6_HUMAN			5	1071	-	Melanoma(58;0.04)		336					A8KAH0|Q96EM5	Silent	SNP	ENST00000407418.3	37	c.1008C>T	CCDS13980.1																																																																																				PASS	0.746	CBX6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318190.1	NM_014292		7	9	7	9	---	---	---	---
SHOX	6473	broad.mit.edu	37	X	601563	601563	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chrX:601563T>A	ENST00000554971.1	+	3	585	c.494T>A	c.(493-495)tTc>tAc	p.F165Y	SHOX_ENST00000381578.1_Missense_Mutation_p.F165Y|SHOX_ENST00000334060.3_Missense_Mutation_p.F165Y|SHOX_ENST00000381575.1_Missense_Mutation_p.F165Y			O15266	SHOX_HUMAN	short stature homeobox	165					skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F165Y(1)		endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AAGGTTTGGTTCCAGAACCGG	0.582																																					Ovarian(95;18 1419 12424 14056 28266)	uc004cph.1																			1	Substitution - Missense(1)		lung(1)		0	GRCh37	CM074530	SHOX	M		c.(493-495)TTC>TAC		short stature homeobox isoform SHOXa							145.0	156.0	152.0					X																	601563		2203	4296	6499	SO:0001583	missense	6473				skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:601563T>A	U82668	CCDS14106.1, CCDS14107.1	Xp22.33 and Yp11.32	2014-07-16			ENSG00000185960	ENSG00000185960		"""Pseudoautosomal regions / PAR1"", ""Homeoboxes / PRD class"""	10853	protein-coding gene	gene with protein product		312865, 400020				9259282, 9140395	Standard	XR_247282		Approved	PHOG, GCFX, SS, SHOXY	uc004cph.1	O15266	OTTHUMG00000021053	ENST00000554971.1:c.494T>A	X.37:g.601563T>A	ENSP00000452016:p.Phe165Tyr					SHOX_uc004cpi.2_Missense_Mutation_p.F165Y	p.F165Y	NM_000451	NP_000442	O15266	SHOX_HUMAN			4	1185	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	165			Homeobox.		O00412|O00413|O15267	Missense_Mutation	SNP	ENST00000554971.1	37	c.494T>A	CCDS14107.1	.	.	.	.	.	.	.	.	.	.	T	13.34	2.207817	0.39003	.	.	ENSG00000185960	ENST00000334060;ENST00000381578;ENST00000554971;ENST00000381575	D;D;D;D	0.99719	-6.52;-6.52;-6.52;-6.52	1.36	1.36	0.22044	Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.99715	0.9890	H	0.96269	3.795	0.09310	N	0.999999	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.982	D	0.98534	1.0629	10	0.87932	D	0	.	8.7834	0.34804	0.0:0.0:0.0:1.0	.	165;165	O15266-2;O15266	.;SHOX_HUMAN	Y	165	ENSP00000335505:F165Y;ENSP00000370990:F165Y;ENSP00000452016:F165Y;ENSP00000370987:F165Y	ENSP00000335505:F165Y	F	+	2	0	SHOX	521563	1.000000	0.71417	0.962000	0.40283	0.558000	0.35554	5.894000	0.69806	0.598000	0.29829	0.097000	0.15509	TTC		PASS	0.582	SHOX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411999.3	NM_000451		39	58	39	58	---	---	---	---
ASMT	438	broad.mit.edu	37	X	1742166	1742166	+	Silent	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chrX:1742166G>T	ENST00000381229.4	+	2	240	c.204G>T	c.(202-204)gtG>gtT	p.V68V	ASMT_ENST00000381233.3_Silent_p.V68V|ASMT_ENST00000381241.3_Silent_p.V68V			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	68					cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)	p.V68V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Melatonin(DB01065)	ACATCTGTGTGTCCCTGAAGC	0.622																																						uc004cqd.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(202-204)GTG>GTT		acetylserotonin O-methyltransferase							107.0	104.0	105.0					X																	1742166		2203	4296	6499	SO:0001819	synonymous_variant	438				melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity	g.chrX:1742166G>T	M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"""Pseudoautosomal regions / PAR1"""	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.204G>T	X.37:g.1742166G>T						ASMT_uc010ncy.2_Silent_p.V68V|ASMT_uc004cqe.2_Silent_p.V68V	p.V68V	NM_004043	NP_004034	P46597	HIOM_HUMAN			3	349	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	68					B2RC33|Q16598|Q5JQ72|Q5JQ73	Silent	SNP	ENST00000381229.4	37	c.204G>T																																																																																					PASS	0.622	ASMT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055612.1	NM_004043		13	24	13	24	---	---	---	---
SHROOM2	357	broad.mit.edu	37	X	9905279	9905279	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chrX:9905279C>A	ENST00000380913.3	+	7	3783	c.3693C>A	c.(3691-3693)tgC>tgA	p.C1231*	SHROOM2_ENST00000418909.2_Nonsense_Mutation_p.C66*	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1231					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)	p.C1231*(1)		breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GCCTGGCATGCCCCGCCGAGC	0.612																																						uc004csu.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.(3691-3693)TGC>TGA		apical protein of Xenopus-like							38.0	31.0	33.0					X																	9905279		2196	4299	6495	SO:0001587	stop_gained	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9905279C>A	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3693C>A	X.37:g.9905279C>A	ENSP00000370299:p.Cys1231*					SHROOM2_uc004csv.2_Nonsense_Mutation_p.C66*|SHROOM2_uc011mic.1_Nonsense_Mutation_p.C66*|SHROOM2_uc004csw.1_Nonsense_Mutation_p.C66*	p.C1231*	NM_001649	NP_001640	Q13796	SHRM2_HUMAN			7	3783	+		Hepatocellular(5;0.000888)	1231					B9EIQ7	Nonsense_Mutation	SNP	ENST00000380913.3	37	c.3693C>A	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	C	35	5.455922	0.96223	.	.	ENSG00000146950	ENST00000380913;ENST00000418909;ENST00000452575;ENST00000540923	.	.	.	4.98	-0.00659	0.14012	.	0.801724	0.11498	N	0.557994	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-1.276	1.3992	0.02267	0.1212:0.3213:0.2491:0.3085	.	.	.	.	X	1231;66;66;66	.	ENSP00000370299:C1231X	C	+	3	2	SHROOM2	9865279	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	0.445000	0.21677	-0.526000	0.06383	0.594000	0.82650	TGC		PASS	0.612	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		3	7	3	7	---	---	---	---
BCOR	54880	broad.mit.edu	37	X	39933802	39933802	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chrX:39933802C>A	ENST00000378444.4	-	4	1025	c.797G>T	c.(796-798)aGg>aTg	p.R266M	BCOR_ENST00000378455.4_Missense_Mutation_p.R266M|BCOR_ENST00000342274.4_Missense_Mutation_p.R266M|BCOR_ENST00000397354.3_Missense_Mutation_p.R266M	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	266					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.R266M(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGTCGAGAGCCTCATGGGTGA	0.607			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															uc004den.3				Rec	yes		X	Xp11.4	54880		BCL6 corepressor	yes							1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(796-798)AGG>ATG		BCL-6 interacting corepressor isoform c							43.0	29.0	34.0					X																	39933802		2201	4300	6501	SO:0001583	missense	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39933802C>A	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.797G>T	X.37:g.39933802C>A	ENSP00000367705:p.Arg266Met					BCOR_uc004dep.3_Missense_Mutation_p.R266M|BCOR_uc004deo.3_Missense_Mutation_p.R266M|BCOR_uc004dem.3_Missense_Mutation_p.R266M|BCOR_uc004deq.3_Missense_Mutation_p.R266M	p.R266M	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			4	1089	-			266					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.797G>T	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.256965	0.59321	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89	5.38	5.38	0.77491	.	.	.	.	.	T	0.78935	0.4362	L	0.32530	0.975	0.47659	D	0.999488	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.997;0.999	T	0.80703	-0.1264	9	0.72032	D	0.01	-22.7993	11.7564	0.51878	0.0:0.9173:0.0:0.0827	.	266;266;266;266	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	M	266	ENSP00000367716:R266M;ENSP00000380512:R266M;ENSP00000367705:R266M;ENSP00000345923:R266M;ENSP00000384485:R266M	ENSP00000345923:R266M	R	-	2	0	BCOR	39818746	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	5.782000	0.68973	2.249000	0.74217	0.600000	0.82982	AGG		PASS	0.607	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		6	4	6	4	---	---	---	---
KDM6A	7403	broad.mit.edu	37	X	44970626	44970626	+	Splice_Site	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chrX:44970626G>A	ENST00000377967.4	+	29	4217		c.e29-1		KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.?(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TTTATTTTCAGGCTCCTCCAT	0.378			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3				Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		7	Whole gene deletion(6)|Unknown(1)		oesophagus(2)|breast(2)|pancreas(2)|lung(1)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.e29-1		ubiquitously transcribed tetratricopeptide							168.0	139.0	149.0					X																	44970626		2203	4300	6503	SO:0001630	splice_region_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44970626G>A	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.4177-1G>A	X.37:g.44970626G>A						KDM6A_uc011mkz.1_Splice_Site_p.A1445_splice|KDM6A_uc011mla.1_Splice_Site_p.A1348_splice|KDM6A_uc011mlb.1_Splice_Site_p.A1400_splice|KDM6A_uc011mlc.1_Splice_Site_p.A1097_splice|KDM6A_uc011mld.1_Splice_Site_p.A1032_splice	p.A1393_splice	NM_021140	NP_066963	O15550	KDM6A_HUMAN			29	4552	+								Q52LL9|Q5JVQ7	Splice_Site	SNP	ENST00000377967.4	37	c.4177_splice	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804532	0.50315	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000414389;ENST00000433797;ENST00000431196	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9395	0.89022	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KDM6A	44855570	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.014000	0.88676	2.256000	0.74724	0.594000	0.82650	.		PASS	0.378	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140	Intron	41	28	41	28	---	---	---	---
SSX7	280658	broad.mit.edu	37	X	52677351	52677351	+	Silent	SNP	T	T	G			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chrX:52677351T>G	ENST00000298181.5	-	6	584	c.426A>C	c.(424-426)ccA>ccC	p.P142P		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	142					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.P142P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					TTGGTTTTCCTGGAGGGCACA	0.493																																						uc004dqx.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(424-426)CCA>CCC		synovial sarcoma, X breakpoint 7							203.0	177.0	186.0					X																	52677351		2203	4300	6503	SO:0001819	synonymous_variant	280658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:52677351T>G	BK000687	CCDS14343.1	Xp11.23	2011-02-10			ENSG00000187754	ENSG00000187754			19653	protein-coding gene	gene with protein product		300542				12216073	Standard	NM_173358		Approved		uc004dqx.1	Q7RTT5	OTTHUMG00000021572	ENST00000298181.5:c.426A>C	X.37:g.52677351T>G							p.P142P	NM_173358	NP_775494	Q7RTT5	SSX7_HUMAN			6	585	-	Ovarian(276;0.236)		142						Silent	SNP	ENST00000298181.5	37	c.426A>C	CCDS14343.1																																																																																				PASS	0.493	SSX7-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056671.1	NM_173358		92	67	92	67	---	---	---	---
WNK3	65267	broad.mit.edu	37	X	54337675	54337675	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chrX:54337675T>C	ENST00000375159.2	-	2	586	c.587A>G	c.(586-588)gAg>gGg	p.E196G	WNK3_ENST00000354646.2_Missense_Mutation_p.E196G|WNK3_ENST00000375169.3_Missense_Mutation_p.E196G			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	196	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E196G(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CTTCAACATCTCTGCTTCTTC	0.363																																						uc004dtd.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						c.(586-588)GAG>GGG		WNK lysine deficient protein kinase 3 isoform 2							117.0	104.0	109.0					X																	54337675		2203	4300	6503	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54337675T>C	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.587A>G	X.37:g.54337675T>C	ENSP00000364301:p.Glu196Gly					WNK3_uc004dtc.1_Missense_Mutation_p.E196G	p.E196G	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN			3	1026	-			196			Protein kinase.		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.587A>G	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.040344	0.75732	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.66995	-0.24;-0.24;-0.24	5.18	5.18	0.71444	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000018	T	0.66819	0.2828	L	0.49571	1.57	0.48185	D	0.999606	P;P	0.40553	0.492;0.721	B;P	0.45660	0.286;0.489	T	0.67593	-0.5631	10	0.44086	T	0.13	-13.416	13.1936	0.59726	0.0:0.0:0.0:1.0	.	196;196	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	G	196	ENSP00000364312:E196G;ENSP00000346667:E196G;ENSP00000364301:E196G	ENSP00000346667:E196G	E	-	2	0	WNK3	54354400	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.950000	0.87804	1.825000	0.53177	0.486000	0.48141	GAG		PASS	0.363	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		26	29	26	29	---	---	---	---
SPIN4	139886	broad.mit.edu	37	X	62570236	62570236	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chrX:62570236T>A	ENST00000335144.3	-	1	982	c.463A>T	c.(463-465)Acc>Tcc	p.T155S	SPIN4_ENST00000374884.2_Missense_Mutation_p.T137S|SPIN4-AS1_ENST00000451979.1_RNA	NM_001012968.2	NP_001012986.2	Q56A73	SPIN4_HUMAN	spindlin family, member 4	155					gamete generation (GO:0007276)			p.T155S(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						TTCTCGTAGGTGATGTAAAAC	0.453																																						uc004dvf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(463-465)ACC>TCC		spindlin family, member 4							140.0	133.0	135.0					X																	62570236		2043	4182	6225	SO:0001583	missense	139886				gamete generation			g.chrX:62570236T>A	AK126931	CCDS43964.1	Xq11.1	2008-02-05			ENSG00000186767	ENSG00000186767			27040	protein-coding gene	gene with protein product						12477932	Standard	NM_001012968		Approved	FLJ44984	uc004dvf.3	Q56A73	OTTHUMG00000021696	ENST00000335144.3:c.463A>T	X.37:g.62570236T>A	ENSP00000334163:p.Thr155Ser						p.T155S	NM_001012968	NP_001012986	Q56A73	SPIN4_HUMAN			1	983	-			155					B3KX90|Q5JUL2	Missense_Mutation	SNP	ENST00000335144.3	37	c.463A>T	CCDS43964.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.021633	0.75275	.	.	ENSG00000186767	ENST00000374884;ENST00000335144	T;T	0.48836	0.8;0.8	3.86	3.86	0.44501	.	0.000000	0.85682	D	0.000000	T	0.62122	0.2402	M	0.69185	2.1	0.50171	D	0.999851	D	0.89917	1.0	D	0.85130	0.997	T	0.60167	-0.7316	10	0.32370	T	0.25	-38.6148	10.1393	0.42725	0.0:0.0:0.0:1.0	.	155	Q56A73	SPIN4_HUMAN	S	137;155	ENSP00000364018:T137S;ENSP00000334163:T155S	ENSP00000334163:T155S	T	-	1	0	SPIN4	62486961	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	6.456000	0.73501	1.753000	0.51906	0.441000	0.28932	ACC		PASS	0.453	SPIN4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001012968		66	50	66	50	---	---	---	---
MSN	4478	broad.mit.edu	37	X	64959616	64959616	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chrX:64959616C>A	ENST00000360270.5	+	13	1767	c.1595C>A	c.(1594-1596)gCc>gAc	p.A532D		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	532					cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)	p.A532D(1)	MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						CTGGCCAATGCCAGAGATGAG	0.527			T	ALK	ALCL																																	uc004dwf.2				Dom	yes		X	Xq11.2-q12	4478	T	moesin			L	ALK		ALCL	MSN/ALK(6)	1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1)	10						c.(1594-1596)GCC>GAC		moesin							96.0	73.0	81.0					X																	64959616		2203	4300	6503	SO:0001583	missense	4478				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton	g.chrX:64959616C>A	M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.1595C>A	X.37:g.64959616C>A	ENSP00000353408:p.Ala532Asp						p.A532D	NM_002444	NP_002435	P26038	MOES_HUMAN			13	1793	+			532						Missense_Mutation	SNP	ENST00000360270.5	37	c.1595C>A	CCDS14382.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.767679	0.90020	.	.	ENSG00000147065	ENST00000360270	T	0.76578	-1.03	5.67	5.67	0.87782	Moesin (1);Ezrin/radixin/moesin, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89203	0.6648	M	0.86953	2.85	0.80722	D	1	D	0.53151	0.958	D	0.64877	0.93	D	0.90793	0.4688	10	0.72032	D	0.01	.	17.135	0.86737	0.0:1.0:0.0:0.0	.	532	P26038	MOES_HUMAN	D	532	ENSP00000353408:A532D	ENSP00000353408:A532D	A	+	2	0	MSN	64876341	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	7.734000	0.84928	2.368000	0.80403	0.594000	0.82650	GCC		PASS	0.527	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056981.1	NM_002444		47	40	47	40	---	---	---	---
XIST	7503	broad.mit.edu	37	X	73063443	73063443	+	lincRNA	SNP	T	T	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chrX:73063443T>C	ENST00000429829.1	-	0	9145					NR_001564.2				X inactive specific transcript (non-protein coding)																		CATTAATGCATATTAAGTCCA	0.403																																						uc004ebm.1																			0					0								Homo sapiens cDNA: FLJ21545 fis, clone COL06195.							48.0	45.0	46.0					X																	73063443		876	1991	2867			7503							g.chrX:73063443T>C	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73063443T>C								NR_001564						1		-									RNA	SNP	ENST00000429829.1	37	c.9146A>G																																																																																					PASS	0.403	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		18	18	18	18	---	---	---	---
DACH2	117154	broad.mit.edu	37	X	86068252	86068252	+	Missense_Mutation	SNP	A	A	C			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chrX:86068252A>C	ENST00000373125.4	+	9	1509	c.1509A>C	c.(1507-1509)agA>agC	p.R503S	DACH2_ENST00000373131.1_Missense_Mutation_p.R490S|DACH2_ENST00000510272.1_Missense_Mutation_p.R284S|DACH2_ENST00000508860.1_Missense_Mutation_p.R336S	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	503	DACHbox-C.				development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R490S(1)|p.R503S(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						ACCTTGAAAGACAACTTGCAG	0.373																																						uc004eew.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(1507-1509)AGA>AGC		dachshund 2 isoform a							40.0	39.0	39.0					X																	86068252		2202	4300	6502	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:86068252A>C	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1509A>C	X.37:g.86068252A>C	ENSP00000362217:p.Arg503Ser					DACH2_uc004eex.2_Missense_Mutation_p.R490S|DACH2_uc010nmq.2_Missense_Mutation_p.R369S|DACH2_uc011mra.1_Missense_Mutation_p.R336S|DACH2_uc010nmr.2_Missense_Mutation_p.R284S|DACH2_uc004eey.2_Missense_Mutation_p.R196S|DACH2_uc004eez.2_Missense_Mutation_p.R186S	p.R503S	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN			9	1679	+			503			Potential.|DACHbox-C.		B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.1509A>C	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	A	18.57	3.653530	0.67472	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.86497	-2.08;-2.13	5.19	2.85	0.33270	.	0.000000	0.85682	D	0.000000	D	0.88317	0.6404	M	0.67397	2.05	0.54753	D	0.999986	D;P;P;P	0.67145	0.996;0.949;0.903;0.936	P;P;B;P	0.57620	0.824;0.692;0.406;0.49	D	0.87468	0.2412	10	0.87932	D	0	.	4.7096	0.12867	0.5809:0.0:0.4191:0.0	.	369;503;490;503	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	S	503;490;503;336;284;336;168	ENSP00000362223:R490S;ENSP00000362217:R503S	ENSP00000345134:R503S	R	+	3	2	DACH2	85954908	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.501000	0.35693	1.720000	0.51447	0.417000	0.27973	AGA		PASS	0.373	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		12	7	12	7	---	---	---	---
DIAPH2	1730	broad.mit.edu	37	X	96173512	96173512	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chrX:96173512G>T	ENST00000324765.8	+	9	1221	c.874G>T	c.(874-876)Gat>Tat	p.D292Y	DIAPH2_ENST00000373061.3_Missense_Mutation_p.D292Y|DIAPH2_ENST00000373054.4_Missense_Mutation_p.D288Y|DIAPH2_ENST00000373049.4_Missense_Mutation_p.D292Y|DIAPH2_ENST00000355827.4_Missense_Mutation_p.D292Y			O60879	DIAP2_HUMAN	diaphanous-related formin 2	292	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)	p.D292Y(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CTACAGTCTAGATAAACTTTT	0.368																																						uc004efu.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)	4						c.(874-876)GAT>TAT		diaphanous 2 isoform 156							78.0	69.0	72.0					X																	96173512		2203	4298	6501	SO:0001583	missense	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:96173512G>T	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.874G>T	X.37:g.96173512G>T	ENSP00000321348:p.Asp292Tyr					DIAPH2_uc004eft.3_Missense_Mutation_p.D292Y|DIAPH2_uc004efs.2_Missense_Mutation_p.D299Y	p.D292Y	NM_006729	NP_006720	O60879	DIAP2_HUMAN			9	1270	+			292			GBD/FH3.		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	c.874G>T	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	g	17.77	3.470753	0.63625	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3	5.87	5.87	0.94306	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.258206	0.36268	N	0.002697	D	0.93533	0.7936	M	0.76328	2.33	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.991;0.998;0.988	D	0.93895	0.7183	10	0.87932	D	0	.	18.7815	0.91934	0.0:0.0:1.0:0.0	.	292;292;299	O60879;O60879-2;B7ZLJ0	DIAP2_HUMAN;.;.	Y	292;288;292;292;292;299	ENSP00000362152:D292Y;ENSP00000362145:D288Y;ENSP00000348082:D292Y;ENSP00000362140:D292Y;ENSP00000321348:D292Y	ENSP00000321348:D292Y	D	+	1	0	DIAPH2	96060168	1.000000	0.71417	0.931000	0.37212	0.886000	0.51366	8.688000	0.91260	2.488000	0.83962	0.534000	0.68092	GAT		PASS	0.368	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		20	12	20	12	---	---	---	---
ZMAT1	84460	broad.mit.edu	37	X	101139358	101139358	+	Silent	SNP	G	G	T	rs371282679		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chrX:101139358G>T	ENST00000372782.3	-	7	1088	c.1041C>A	c.(1039-1041)ccC>ccA	p.P347P	ZMAT1_ENST00000540921.1_Silent_p.P347P|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Silent_p.P176P	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	347						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.P347P(1)|p.P176P(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TTCTTGATCTGGGTCCAGAAT	0.448																																						uc004eim.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(526-528)CCC>CCA		zinc finger, matrin type 1 isoform 3							126.0	113.0	118.0					X																	101139358		2203	4300	6503	SO:0001819	synonymous_variant	84460					nucleus	zinc ion binding	g.chrX:101139358G>T	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.1041C>A	X.37:g.101139358G>T						ZMAT1_uc011mrl.1_Silent_p.P347P|ZMAT1_uc004ein.2_Silent_p.P176P|ZMAT1_uc011mrm.1_Silent_p.P176P	p.P176P	NM_032441	NP_115817	Q5H9K5	ZMAT1_HUMAN			2	4026	-			176					Q8NDS3|Q96JN6	Silent	SNP	ENST00000372782.3	37	c.528C>A	CCDS35348.1																																																																																				PASS	0.448	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			78	60	78	60	---	---	---	---
RGAG1	57529	broad.mit.edu	37	X	109695278	109695278	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chrX:109695278C>T	ENST00000465301.2	+	3	1679	c.1433C>T	c.(1432-1434)aCa>aTa	p.T478I	RGAG1_ENST00000540313.1_Missense_Mutation_p.T478I	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	478								p.T478I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GCAATGCCCACAGGCTCTATG	0.512																																						uc004eor.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(1432-1434)ACA>ATA		retrotransposon gag domain containing 1							134.0	121.0	125.0					X																	109695278		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109695278C>T	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1433C>T	X.37:g.109695278C>T	ENSP00000419786:p.Thr478Ile					RGAG1_uc011msr.1_Missense_Mutation_p.T478I	p.T478I	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN			3	1679	+			478					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.1433C>T	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	C	5.413	0.261295	0.10239	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.50548	0.74;0.74	3.49	0.633	0.17712	.	0.497943	0.15096	N	0.280819	T	0.30854	0.0778	L	0.39898	1.24	0.09310	N	1	B	0.24426	0.103	B	0.23419	0.046	T	0.16129	-1.0413	9	.	.	.	-1.4937	2.6958	0.05134	0.3891:0.3654:0.0:0.2455	.	478	Q8NET4	RGAG1_HUMAN	I	478	ENSP00000419786:T478I;ENSP00000441452:T478I	.	T	+	2	0	RGAG1	109581934	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.112000	0.10791	0.005000	0.14708	-0.283000	0.09986	ACA		PASS	0.512	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		66	47	66	47	---	---	---	---
DCAF12L1	139170	broad.mit.edu	37	X	125685379	125685379	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chrX:125685379C>A	ENST00000371126.1	-	1	1455	c.1213G>T	c.(1213-1215)Gcc>Tcc	p.A405S		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	405								p.A405S(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CTGCCACAGGCAAGCCTGAGC	0.557																																						uc004eul.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(1213-1215)GCC>TCC		DDB1 and CUL4 associated factor 12-like 1							83.0	79.0	81.0					X																	125685379		2203	4300	6503	SO:0001583	missense	139170							g.chrX:125685379C>A	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.1213G>T	X.37:g.125685379C>A	ENSP00000360167:p.Ala405Ser						p.A405S	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	1464	-			405					Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.1213G>T	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	C	0.119	-1.128630	0.01756	.	.	ENSG00000198889	ENST00000371126	T	0.16897	2.31	3.78	1.02	0.19986	.	0.669254	0.12408	N	0.471526	T	0.04907	0.0132	N	0.02539	-0.55	0.09310	N	1	B	0.17465	0.022	B	0.14023	0.01	T	0.42682	-0.9437	10	0.11485	T	0.65	.	3.2704	0.06879	0.2019:0.1375:0.0:0.6606	.	405	Q5VU92	DC121_HUMAN	S	405	ENSP00000360167:A405S	ENSP00000360167:A405S	A	-	1	0	DCAF12L1	125513060	0.962000	0.33011	0.000000	0.03702	0.008000	0.06430	0.605000	0.24179	0.115000	0.18071	-0.312000	0.09012	GCC		PASS	0.557	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		21	26	21	26	---	---	---	---
OR13H1	347468	broad.mit.edu	37	X	130678730	130678730	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chrX:130678730G>A	ENST00000338616.3	+	1	781	c.683G>A	c.(682-684)cGc>cAc	p.R228H		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R228H(1)		endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					ATAAGGATTCGCTCACTCCAG	0.468																																						uc011muw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(682-684)CGC>CAC		olfactory receptor, family 13, subfamily H,							211.0	185.0	194.0					X																	130678730		2203	4300	6503	SO:0001583	missense	347468				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chrX:130678730G>A		CCDS35396.1	Xq26.2	2012-08-23			ENSG00000171054	ENSG00000171054		"""GPCR / Class A : Olfactory receptors"""	14755	protein-coding gene	gene with protein product							Standard	NM_001004486		Approved		uc011muw.2	Q8NG92	OTTHUMG00000022411	ENST00000338616.3:c.683G>A	X.37:g.130678730G>A	ENSP00000340748:p.Arg228His					IGSF1_uc004ewf.2_Intron	p.R228H	NM_001004486	NP_001004486	Q8NG92	O13H1_HUMAN			1	683	+	Acute lymphoblastic leukemia(192;0.000636)		228			Cytoplasmic (Potential).		B2RNQ3|Q6IET8|Q96R12	Missense_Mutation	SNP	ENST00000338616.3	37	c.683G>A	CCDS35396.1	.	.	.	.	.	.	.	.	.	.	G	2.090	-0.408548	0.04832	.	.	ENSG00000171054	ENST00000338616	T	0.39229	1.09	4.87	-5.92	0.02261	GPCR, rhodopsin-like superfamily (1);	0.181151	0.26812	N	0.022362	T	0.20455	0.0492	N	0.19112	0.55	0.09310	N	1	B	0.17667	0.023	B	0.16289	0.015	T	0.03566	-1.1024	10	0.41790	T	0.15	.	8.5376	0.33373	0.5881:0.0:0.3082:0.1036	.	228	Q8NG92	O13H1_HUMAN	H	228	ENSP00000340748:R228H	ENSP00000340748:R228H	R	+	2	0	OR13H1	130506411	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.887000	0.01617	-1.439000	0.01962	-1.264000	0.01445	CGC		PASS	0.468	OR13H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058297.1			98	66	98	66	---	---	---	---
SAGE1	55511	broad.mit.edu	37	X	134994064	134994064	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chrX:134994064G>A	ENST00000370709.3	+	17	2473	c.2473G>A	c.(2473-2475)Gat>Aat	p.D825N	SAGE1_ENST00000537770.1_Missense_Mutation_p.D449N|SAGE1_ENST00000324447.3_Missense_Mutation_p.D825N|SAGE1_ENST00000535938.1_Missense_Mutation_p.D825N			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	825						nucleus (GO:0005634)		p.D825N(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GAAAATTAATGATGATATAAA	0.378																																						uc004ezh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2473-2475)GAT>AAT		sarcoma antigen 1							48.0	47.0	47.0					X																	134994064		2203	4297	6500	SO:0001583	missense	55511							g.chrX:134994064G>A	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.2473G>A	X.37:g.134994064G>A	ENSP00000359743:p.Asp825Asn					SAGE1_uc010nry.1_Missense_Mutation_p.D794N|SAGE1_uc011mvv.1_Missense_Mutation_p.D449N	p.D825N	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN			18	2640	+	Acute lymphoblastic leukemia(192;0.000127)		825					Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	c.2473G>A	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.146911	0.37923	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.30182	1.54;1.54;1.57;1.54	2.25	-2.04	0.07343	.	0.320337	0.32015	N	0.006715	T	0.18718	0.0449	L	0.29908	0.895	0.09310	N	1	B;D	0.56968	0.187;0.978	B;P	0.47645	0.055;0.553	T	0.36601	-0.9741	10	0.16896	T	0.51	.	4.9765	0.14144	0.116:0.0:0.5276:0.3564	.	449;825	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	N	825;825;449;825	ENSP00000323191:D825N;ENSP00000445959:D825N;ENSP00000438276:D449N;ENSP00000359743:D825N	ENSP00000323191:D825N	D	+	1	0	SAGE1	134821730	0.001000	0.12720	0.000000	0.03702	0.777000	0.43975	0.357000	0.20199	-0.952000	0.03649	0.179000	0.17066	GAT		PASS	0.378	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		35	31	35	31	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135431138	135431138	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chrX:135431138G>T	ENST00000394143.1	+	6	5564	c.5273G>T	c.(5272-5274)aGt>aTt	p.S1758I	GPR112_ENST00000412101.1_Missense_Mutation_p.S1553I|GPR112_ENST00000287534.4_Missense_Mutation_p.S1695I|GPR112_ENST00000370652.1_Missense_Mutation_p.S1758I|GPR112_ENST00000394141.1_Missense_Mutation_p.S1553I	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1758					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S1758I(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CATGCAGATAGTCTCCATACT	0.408																																						uc004ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(5272-5274)AGT>ATT		G-protein coupled receptor 112							166.0	151.0	156.0					X																	135431138		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135431138G>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.5273G>T	X.37:g.135431138G>T	ENSP00000377699:p.Ser1758Ile					GPR112_uc010nsb.1_Missense_Mutation_p.S1553I|GPR112_uc010nsc.1_Missense_Mutation_p.S1525I	p.S1758I	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	5564	+	Acute lymphoblastic leukemia(192;0.000127)		1758			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.5273G>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	g	12.21	1.871107	0.33069	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.31247	1.54;1.54;1.5;1.65;1.5	3.57	0.951	0.19579	.	.	.	.	.	T	0.17195	0.0413	N	0.19112	0.55	0.09310	N	1	D;P;P	0.55605	0.972;0.924;0.94	B;B;B	0.42112	0.376;0.256;0.272	T	0.11641	-1.0579	9	0.35671	T	0.21	.	5.3061	0.15805	0.7138:0.0:0.2862:0.0	.	1695;1553;1758	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	I	1758;1758;1553;1695;1553	ENSP00000377699:S1758I;ENSP00000359686:S1758I;ENSP00000416526:S1553I;ENSP00000287534:S1695I;ENSP00000377697:S1553I	ENSP00000287534:S1695I	S	+	2	0	GPR112	135258804	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.128000	0.15810	-0.095000	0.12351	-0.393000	0.06486	AGT		PASS	0.408	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			75	64	75	64	---	---	---	---
UBE2NL	389898	broad.mit.edu	37	X	142967473	142967473	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chrX:142967473A>T	ENST00000370494.1	+	1	301	c.271A>T	c.(271-273)Att>Ttt	p.I91F		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	91						extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)	p.I91F(1)		breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					AAGTTTAGATATTTTGAAAGA	0.408																																						uc004fca.2																			1	Substitution - Missense(1)		lung(1)		0						c.(271-273)ATT>TTT		ubiquitin-conjugating enzyme E2N-like							83.0	77.0	79.0					X																	142967473		2203	4300	6503	SO:0001583	missense	389898						acid-amino acid ligase activity	g.chrX:142967473A>T			Xq27.3	2014-06-11	2014-06-11		ENSG00000102069			"""Ubiquitin-conjugating enzymes E2"""	31710	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2N-like"""			20736409	Standard	NM_001012989		Approved		uc004fca.3	Q5JXB2	OTTHUMG00000022586	ENST00000370494.1:c.271A>T	X.37:g.142967473A>T	ENSP00000359525:p.Ile91Phe						p.I91F	NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN			1	301	+	Acute lymphoblastic leukemia(192;6.56e-05)		91					E9KL27	Missense_Mutation	SNP	ENST00000370494.1	37	c.271A>T	CCDS35420.1	.	.	.	.	.	.	.	.	.	.	A	10.86	1.469862	0.26423	.	.	ENSG00000102069	ENST00000370494	T	0.55930	0.49	1.06	1.06	0.20224	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.43919	U	0.000507	T	0.79528	0.4461	H	0.99074	4.42	0.80722	D	1	D	0.63046	0.992	D	0.75020	0.985	T	0.78521	-0.2172	10	0.87932	D	0	-6.3379	6.0546	0.19804	1.0:0.0:0.0:0.0	.	91	Q5JXB2	UE2NL_HUMAN	F	91	ENSP00000359525:I91F	ENSP00000359525:I91F	I	+	1	0	UBE2NL	142795139	1.000000	0.71417	0.990000	0.47175	0.018000	0.09664	6.301000	0.72782	0.695000	0.31675	0.151000	0.16131	ATT		PASS	0.408	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058624.1	NM_001012989		38	33	38	33	---	---	---	---
FATE1	89885	broad.mit.edu	37	X	150891115	150891115	+	Missense_Mutation	SNP	C	C	T	rs200197342		TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chrX:150891115C>T	ENST00000370350.3	+	5	521	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	146						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.R146W(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					TGCAGTCAACCGGCGTCTGCG	0.617																																						uc004fex.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(436-438)CGG>TGG		fetal and adult testis expressed transcript		C	TRP/ARG	0,3835		0,0,0,1632,571	54.0	61.0	59.0		436	-3.1	0.0	X		59	3,6724		0,2,1,2426,1870	yes	missense	FATE1	NM_033085.2	101	0,2,1,4058,2441	TT,TC,T,CC,C		0.0446,0.0,0.0284	probably-damaging	146/184	150891115	3,10559	2203	4299	6502	SO:0001583	missense	89885					endoplasmic reticulum|integral to membrane		g.chrX:150891115C>T	AF249872	CCDS14700.1	Xq28	2009-03-25			ENSG00000147378	ENSG00000147378			24683	protein-coding gene	gene with protein product	"""cancer/testis antigen 43"""	300450				11694338	Standard	NM_033085		Approved	FATE, CT43	uc004fex.3	Q969F0	OTTHUMG00000024172	ENST00000370350.3:c.436C>T	X.37:g.150891115C>T	ENSP00000359375:p.Arg146Trp						p.R146W	NM_033085	NP_149076	Q969F0	FATE1_HUMAN			5	520	+	Acute lymphoblastic leukemia(192;6.56e-05)		146						Missense_Mutation	SNP	ENST00000370350.3	37	c.436C>T	CCDS14700.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896493	0.52121	0.0	4.46E-4	ENSG00000147378	ENST00000370350	T	0.51325	0.71	4.55	-3.11	0.05299	.	2.320480	0.01419	N	0.014315	T	0.34861	0.0912	N	0.08118	0	0.09310	N	1	D	0.65815	0.995	P	0.54060	0.741	T	0.14980	-1.0453	10	0.62326	D	0.03	0.8738	0.3939	0.00415	0.356:0.133:0.2438:0.2672	.	146	Q969F0	FATE1_HUMAN	W	146	ENSP00000359375:R146W	ENSP00000359375:R146W	R	+	1	2	FATE1	150641771	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.432000	0.06956	-1.143000	0.02866	-0.200000	0.12747	CGG		PASS	0.617	FATE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060885.1	NM_033085		37	50	37	50	---	---	---	---
IQGAP2	10788	broad.mit.edu	37	5	75991401	75991403	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr5:75991401_75991403delGAA	ENST00000274364.6	+	32	4413_4415	c.4116_4118delGAA	c.(4114-4119)aggaaa>aga	p.K1373del	CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000379730.3_In_Frame_Del_p.K875del|IQGAP2_ENST00000396234.3_In_Frame_Del_p.K869del|IQGAP2_ENST00000502745.1_In_Frame_Del_p.K869del	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1373					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AGAAGAAGAGGAAAATCCAGAGG	0.438																																						uc003kek.2																			0				ovary(6)|central_nervous_system(1)	7						c.(4114-4119)AGGAAA>AGA		IQ motif containing GTPase activating protein 2																																				SO:0001651	inframe_deletion	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75991401_75991403delGAA	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.4116_4118delGAA	5.37:g.75991401_75991403delGAA	ENSP00000274364:p.Lys1373del					IQGAP2_uc011csv.1_In_Frame_Del_p.K869del|IQGAP2_uc003kel.2_In_Frame_Del_p.K869del|IQGAP2_uc010izw.1_In_Frame_Del_p.K74del	p.K1373del	NM_006633	NP_006624	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	32	4338_4340	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	1373					A8K4V1|B7Z8A4|J3KR91	In_Frame_Del	DEL	ENST00000274364.6	37	c.4116_4118delGAA	CCDS34188.1																																																																																					0.438	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		59	30	59	30	---	---	---	---
PEX1	5189	broad.mit.edu	37	7	92120632	92120632	+	Frame_Shift_Del	DEL	C	C	-			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr7:92120632delC	ENST00000248633.4	-	21	3487	c.3392delG	c.(3391-3393)ggafs	p.G1131fs	PEX1_ENST00000428214.1_Frame_Shift_Del_p.G1074fs|AC007566.10_ENST00000427458.1_RNA|PEX1_ENST00000438045.1_Frame_Shift_Del_p.G809fs|AC007566.10_ENST00000441539.1_RNA	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	1131					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ATAAGAGCTTCCAAAGTAGAG	0.383																																						uc003uly.2																			0				ovary(1)|central_nervous_system(1)	2						c.(3391-3393)GGAfs		peroxin1							119.0	122.0	121.0					7																	92120632		2203	4300	6503	SO:0001589	frameshift_variant	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92120632delC	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.3392delG	7.37:g.92120632delC	ENSP00000248633:p.Gly1131fs					PEX1_uc011khr.1_Frame_Shift_Del_p.G923fs|PEX1_uc010ley.2_Frame_Shift_Del_p.G1074fs|PEX1_uc011khs.1_Frame_Shift_Del_p.G809fs	p.G1131fs	NM_000466	NP_000457	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		21	3488	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	1131					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Frame_Shift_Del	DEL	ENST00000248633.4	37	c.3392delG	CCDS5627.1																																																																																					0.383	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		121	54	121	54	---	---	---	---
ADAM2	2515	broad.mit.edu	37	8	39606830	39606830	+	Splice_Site	DEL	C	C	-	rs73676913	byFrequency	TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr8:39606830delC	ENST00000265708.4	-	18	2118		c.e18+1		ADAM2_ENST00000379853.2_Splice_Site|ADAM2_ENST00000521880.1_Splice_Site|ADAM2_ENST00000347580.4_Splice_Site	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2						adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		ttaataCTTACCAGGGAGTCT	0.313																																						uc003xnj.2																			0				ovary(1)|lung(1)	2						c.e18+1		ADAM metallopeptidase domain 2 proprotein							39.0	39.0	39.0					8																	39606830		2203	4298	6501	SO:0001630	splice_region_variant	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39606830delC	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.2014+1G>-	8.37:g.39606830delC						ADAM2_uc003xnk.2_Splice_Site_p.E653_splice|ADAM2_uc011lck.1_Splice_Site_p.E609_splice|ADAM2_uc003xnl.2_Splice_Site_p.E516_splice	p.E672_splice	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	18	2089	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)						P78326|Q9UQQ8	Splice_Site	DEL	ENST00000265708.4	37	c.2014_splice	CCDS34884.1																																																																																					0.313	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464	Intron	72	37	72	37	---	---	---	---
POMK	84197	broad.mit.edu	37	8	42977586	42977586	+	Frame_Shift_Del	DEL	G	G	-			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr8:42977586delG	ENST00000331373.5	+	5	874	c.619delG	c.(619-621)gacfs	p.D207fs		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN	protein-O-mannose kinase	207	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|carbohydrate phosphorylation (GO:0046835)|learning or memory (GO:0007611)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|protein O-linked glycosylation (GO:0006493)|sensory perception of pain (GO:0019233)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|carbohydrate kinase activity (GO:0019200)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|protein kinase activity (GO:0004672)										CGACTCCAACGACCTGCCGAA	0.552																																						uc003xpw.2																			0					0						c.(619-621)GACfs		protein kinase-like protein SgK196							67.0	53.0	58.0					8																	42977586		2203	4300	6503	SO:0001589	frameshift_variant	84197					integral to membrane	ATP binding|protein kinase activity	g.chr8:42977586delG		CCDS6141.1	8p11.21	2013-08-22			ENSG00000185900	ENSG00000185900			26267	protein-coding gene	gene with protein product		615247				16879967, 23519211	Standard	NM_001277971		Approved	FLJ23356, SgK196		Q9H5K3	OTTHUMG00000164100	ENST00000331373.5:c.619delG	8.37:g.42977586delG	ENSP00000331258:p.Asp207fs						p.D207fs	NM_032237	NP_115613	Q9H5K3	SG196_HUMAN			5	878	+			207			Protein kinase.			Frame_Shift_Del	DEL	ENST00000331373.5	37	c.619delG	CCDS6141.1																																																																																					0.552	POMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377291.2	NM_032237		49	32	49	32	---	---	---	---
PRKG1	5592	broad.mit.edu	37	10	53893617	53893617	+	Frame_Shift_Del	DEL	C	C	-			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr10:53893617delC	ENST00000401604.2	+	8	1102	c.908delC	c.(907-909)gcafs	p.A303fs	PRKG1_ENST00000373985.1_Frame_Shift_Del_p.A291fs|PRKG1_ENST00000373980.4_Frame_Shift_Del_p.A318fs|PRKG1_ENST00000373975.2_Frame_Shift_Del_p.A21fs			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	303	cGMP-binding, low affinity.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		GTGAGAACAGCAAACGTAATT	0.338																																						uc001jjm.2																			0				lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1)	6						c.(907-909)GCAfs		protein kinase, cGMP-dependent, type I isoform							163.0	163.0	163.0					10																	53893617		2203	4300	6503	SO:0001589	frameshift_variant	5592				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr10:53893617delC		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.908delC	10.37:g.53893617delC	ENSP00000384200:p.Ala303fs					PRKG1_uc001jjo.2_Frame_Shift_Del_p.A318fs|PRKG1_uc009xow.1_Frame_Shift_Del_p.A21fs	p.A303fs	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)	8	1102	+		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)	303			cGMP 2.		A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Frame_Shift_Del	DEL	ENST00000401604.2	37	c.908delC	CCDS44399.1																																																																																					0.338	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				40	28	40	28	---	---	---	---
BHLHE41	79365	broad.mit.edu	37	12	26275803	26275803	+	Frame_Shift_Del	DEL	G	G	-			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr12:26275803delG	ENST00000242728.4	-	5	992	c.645delC	c.(643-645)gccfs	p.A215fs	RP11-283G6.3_ENST00000545819.1_RNA|RP11-283G6.3_ENST00000535914.1_RNA	NM_030762.2	NP_110389.1	Q9C0J9	BHE41_HUMAN	basic helix-loop-helix family, member e41	215					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|MRF binding (GO:0043426)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)	5						GCACGCAGTAGGCGAGGGGCT	0.746																																						uc001rhb.2																			0					0						c.(643-645)GCCfs		basic helix-loop-helix domain containing, class							4.0	5.0	5.0					12																	26275803		1957	3926	5883	SO:0001589	frameshift_variant	79365				cell differentiation|cell proliferation|organ morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:26275803delG	AB044088	CCDS8706.1	12p12.1	2011-12-05	2009-01-12	2009-01-12	ENSG00000123095	ENSG00000123095		"""Basic helix-loop-helix proteins"""	16617	protein-coding gene	gene with protein product	"""differentially expressed in chondrocytes 2"", ""Enhancer-of-split and hairy-related protein 1"""	606200	"""basic helix-loop-helix domain containing, class B, 3"""	BHLHB3		11162494, 18557763	Standard	NM_030762		Approved	DEC2, SHARP-1, SHARP1, bHLHe41	uc001rhb.3	Q9C0J9	OTTHUMG00000169174	ENST00000242728.4:c.645delC	12.37:g.26275803delG	ENSP00000242728:p.Ala215fs						p.A215fs	NM_030762	NP_110389	Q9C0J9	BHE41_HUMAN			5	936	-			215					A2I2N8	Frame_Shift_Del	DEL	ENST00000242728.4	37	c.645delC	CCDS8706.1																																																																																					0.746	BHLHE41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402714.1	NM_030762		5	3	5	3	---	---	---	---
ZNF764	92595	broad.mit.edu	37	16	30567040	30567041	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-33-4586-01A-01D-1441-08	TCGA-33-4586-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e6bf4288-9fdd-4c56-b6d2-fa2f5ee542b6	c08fd64b-2ac6-4a08-bce1-30c6e7b870d0	g.chr16:30567040_30567041delCA	ENST00000252797.2	-	3	781_782	c.701_702delTG	c.(700-702)ctgfs	p.L234fs	AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000395091.2_Frame_Shift_Del_p.L233fs	NM_001172679.1|NM_033410.3	NP_001166150.1|NP_219363.2	Q96H86	ZN764_HUMAN	zinc finger protein 764	234					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						GGCCACACTCCAGACAGCGGTG	0.688																																						uc002dyq.2																			0				ovary(1)	1						c.(700-702)CTGfs		zinc finger protein 764																																				SO:0001589	frameshift_variant	92595				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30567040_30567041delCA	BC008821	CCDS10683.1, CCDS54001.1	16p11.2	2013-01-08			ENSG00000169951	ENSG00000169951		"""Zinc fingers, C2H2-type"", ""-"""	28200	protein-coding gene	gene with protein product						12477932	Standard	NM_033410		Approved	MGC13138	uc002dyq.3	Q96H86	OTTHUMG00000132406	ENST00000252797.2:c.701_702delTG	16.37:g.30567040_30567041delCA	ENSP00000252797:p.Leu234fs					ZNF764_uc002dyr.1_Frame_Shift_Del_p.L233fs	p.L234fs	NM_033410	NP_219363	Q96H86	ZN764_HUMAN			3	782_783	-			234			C2H2-type 3.		A8MZF4|B3KSN2|H9KV99|Q9BWS1	Frame_Shift_Del	DEL	ENST00000252797.2	37	c.701_702delTG	CCDS10683.1																																																																																					0.688	ZNF764-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255541.1	NM_033410		14	7	14	7	---	---	---	---
