#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_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	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CFAP74	85452	broad.mit.edu	37	1	1896456	1896456	+	IGR	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:1896456C>G								TMEM52 (45744 upstream) : C1orf222 (23106 downstream)																							CCTTGTCCATCTTTGTCCCGC	0.672																																						uc001aim.1		NA																	0				pancreas(1)	1						c.(1444-1446)AAG>AAC		hypothetical protein LOC85452							43.0	46.0	45.0					1																	1896456		2036	4185	6221	SO:0001628	intergenic_variant	85452							g.chr1:1896456C>G																													1.37:g.1896456C>G						KIAA1751_uc009vkz.1_Missense_Mutation_p.K482N	p.K482N	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	13	1602	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	482						Missense_Mutation	SNP		37	c.1446G>C		.	.	.	.	.	.	.	.	.	.	c	14.53	2.563967	0.45694	.	.	ENSG00000142609	ENST00000270720	.	.	.	4.48	3.54	0.40534	.	0.498482	0.18681	N	0.134170	T	0.64702	0.2622	M	0.76328	2.33	0.80722	D	1	D;P	0.56746	0.977;0.928	P;P	0.52957	0.714;0.526	T	0.65936	-0.6047	9	0.66056	D	0.02	-34.6321	7.6152	0.28154	0.0:0.7979:0.0:0.2021	.	482;482	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	N	482	.	ENSP00000270720:K482N	K	-	3	2	C1orf222	1886316	1.000000	0.71417	0.949000	0.38748	0.481000	0.33189	1.546000	0.36179	0.977000	0.38444	0.556000	0.70494	AAG	0	0.672									3	20	0	0	0	0	3	20				
C1orf127	148345	broad.mit.edu	37	1	11017770	11017770	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:11017770G>A	ENST00000377008.4	-	7	595	c.149C>T	c.(148-150)tCt>tTt	p.S50F	C1orf127_ENST00000377004.4_Missense_Mutation_p.S199F			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	50										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GTCTTCAAGAGAAGCCACCAG	0.577																																						uc010oao.1		NA																	0				ovary(1)	1						c.(148-150)TCT>TTT		hypothetical protein LOC148345							83.0	80.0	81.0					1																	11017770		2203	4300	6503	SO:0001583	missense	148345							g.chr1:11017770G>A	AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.149C>T	1.37:g.11017770G>A	ENSP00000366207:p.Ser50Phe					C1orf127_uc001arr.1_Missense_Mutation_p.S50F|C1orf127_uc001ars.1_Missense_Mutation_p.S50F	p.S50F	NM_173507	NP_775778	B7ZLG7	B7ZLG7_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)	3	154	-	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	50					A0AVG8|A6NKM7|Q5VXJ2	Missense_Mutation	SNP	ENST00000377008.4	37	c.149C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.955380|3.955380	0.73902|0.73902	.|.	.|.	ENSG00000175262|ENSG00000175262	ENST00000418570;ENST00000520253|ENST00000377004;ENST00000377008	.|T;T	.|0.35605	.|1.3;1.3	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	.|0.105081	.|0.37393	.|N	.|0.002105	T|T	0.46983|0.46983	0.1421|0.1421	L|L	0.27053|0.27053	0.805|0.805	0.35437|0.35437	D|D	0.794508|0.794508	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.999	T|T	0.59936|0.59936	-0.7360|-0.7360	5|10	.|0.87932	.|D	.|0	-21.799|-21.799	13.9869|13.9869	0.64341|0.64341	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|50;50;50	.|B7ZLG7;Q8N9H9-2;Q8N9H9	.|.;.;CA127_HUMAN	F|F	52;177|199;50	.|ENSP00000366203:S199F;ENSP00000366207:S50F	.|ENSP00000366203:S199F	L|S	-|-	1|2	0|0	C1orf127|C1orf127	10940357|10940357	0.004000|0.004000	0.15560|0.15560	0.988000|0.988000	0.46212|0.46212	0.996000|0.996000	0.88848|0.88848	0.814000|0.814000	0.27239|0.27239	2.355000|2.355000	0.79922|0.79922	0.655000|0.655000	0.94253|0.94253	CTC|TCT		0.577	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		NM_173507		13	106	0	0	0	0	13	106				
PRAMEF11	440560	broad.mit.edu	37	1	12887265	12887265	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:12887265C>T	ENST00000535591.1	-	3	787	c.592G>A	c.(592-594)Gtt>Att	p.V198I		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	198					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TGGGAGAGAACGAGCTTCTGA	0.517																																						uc001auk.2		NA																	0					0						c.(592-594)GTT>ATT		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887265C>T	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.592G>A	1.37:g.12887265C>T	ENSP00000439551:p.Val198Ile						p.V198I	NM_001146344	NP_001139816	O60813	PRA11_HUMAN			3	788	-			198			LRR 1.			Missense_Mutation	SNP	ENST00000535591.1	37	c.592G>A	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	5.194	0.221421	0.09863	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.00932	5.53;5.53	1.48	-2.96	0.05547	.	3.492590	0.00970	N	0.003234	T	0.00666	0.0022	N	0.12182	0.205	0.09310	N	1	B	0.14438	0.01	B	0.12156	0.007	T	0.50145	-0.8862	10	0.18276	T	0.48	.	0.8139	0.01098	0.2814:0.3415:0.207:0.1702	.	198	O60813	PRA11_HUMAN	I	198;239;198	ENSP00000439551:V198I;ENSP00000391839:V198I	ENSP00000328783:V239I	V	-	1	0	PRAMEF11	12809852	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.521000	0.00063	-2.836000	0.00337	-3.584000	0.00029	GTT		0.517	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		12	458	0	0	0	0	12	458				
AKR7A2	8574	broad.mit.edu	37	1	19632584	19632584	+	Silent	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:19632584G>A	ENST00000235835.3	-	6	867	c.846C>T	c.(844-846)gcC>gcT	p.A282A	RNU6-1099P_ENST00000363533.1_RNA	NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	282					carbohydrate metabolic process (GO:0005975)|cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|phenanthrene-9,10-epoxide hydrolase activity (GO:0019119)	p.A282A(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CGCCATATGCGGCCTGCAGGG	0.632																																						uc001bbw.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	central_nervous_system(1)	1						c.(844-846)GCC>GCT		aldo-keto reductase family 7, member A2							81.0	76.0	78.0					1																	19632584		2203	4300	6503	SO:0001819	synonymous_variant	8574				carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity	g.chr1:19632584G>A	AF026947	CCDS194.1	1p36.13	2010-09-30			ENSG00000053371	ENSG00000053371		"""Aldo-keto reductases"""	389	protein-coding gene	gene with protein product		603418				9576847	Standard	NM_003689		Approved	AFAR	uc001bbw.3	O43488	OTTHUMG00000002522	ENST00000235835.3:c.846C>T	1.37:g.19632584G>A						AKR7A2_uc001bbx.2_Silent_p.A247A	p.A282A	NM_003689	NP_003680	O43488	ARK72_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	868	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	282					O75749|Q5TG63	Silent	SNP	ENST00000235835.3	37	c.846C>T	CCDS194.1																																																																																				0.632	AKR7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007165.2	NM_003689		10	66	0	0	0	0	10	66				
NBPF3	84224	broad.mit.edu	37	1	21800026	21800026	+	Silent	SNP	C	C	T	rs138236134		TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:21800026C>T	ENST00000318249.5	+	7	1238	c.888C>T	c.(886-888)ctC>ctT	p.L296L	NBPF3_ENST00000454000.2_Silent_p.L226L|NBPF3_ENST00000342104.5_Silent_p.L296L|NBPF3_ENST00000318220.6_Silent_p.L240L	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	296	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ACTCAACTCTCATTGACTCAT	0.463																																						uc001ber.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(886-888)CTC>CTT		neuroblastoma breakpoint family, member 3							251.0	224.0	234.0					1																	21800026		2203	4300	6503	SO:0001819	synonymous_variant	84224					cytoplasm		g.chr1:21800026C>T	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.888C>T	1.37:g.21800026C>T						NBPF3_uc001bes.2_Silent_p.L240L|NBPF3_uc009vqb.2_Silent_p.L296L|NBPF3_uc010odm.1_Silent_p.L226L	p.L296L	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	7	1238	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	296			NBPF 1.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Silent	SNP	ENST00000318249.5	37	c.888C>T	CCDS216.1																																																																																				0.463	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		31	222	0	0	0	0	31	222				
GPR3	2827	broad.mit.edu	37	1	27721255	27721255	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:27721255C>T	ENST00000374024.3	+	2	1052	c.953C>T	c.(952-954)tCc>tTc	p.S318F		NM_005281.3	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	318					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|regulation of meiosis (GO:0040020)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		TGTTCCTCTTCCAAGATCCCC	0.527																																						uc001bod.2		NA																	0				ovary(1)	1						c.(952-954)TCC>TTC		G protein-coupled receptor 3							182.0	169.0	173.0					1																	27721255		2203	4300	6503	SO:0001583	missense	2827				activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane		g.chr1:27721255C>T	BC032702	CCDS303.1	1p36.1-p35	2012-08-21			ENSG00000181773	ENSG00000181773		"""GPCR / Class A : Orphans"""	4484	protein-coding gene	gene with protein product		600241				7851889	Standard	NM_005281		Approved	ACCA	uc001bod.4	P46089	OTTHUMG00000003397	ENST00000374024.3:c.953C>T	1.37:g.27721255C>T	ENSP00000363136:p.Ser318Phe						p.S318F	NM_005281	NP_005272	P46089	GPR3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)	2	1048	+		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)	318			Cytoplasmic (Potential).		A8K570	Missense_Mutation	SNP	ENST00000374024.3	37	c.953C>T	CCDS303.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.792724	0.50102	.	.	ENSG00000181773	ENST00000374024	T	0.38560	1.13	5.93	5.93	0.95920	.	2.248190	0.01865	N	0.036844	T	0.53769	0.1817	L	0.29908	0.895	0.45914	D	0.998753	D	0.57899	0.981	P	0.53450	0.726	T	0.49351	-0.8949	10	0.22706	T	0.39	.	19.9541	0.97213	0.0:1.0:0.0:0.0	.	318	P46089	GPR3_HUMAN	F	318	ENSP00000363136:S318F	ENSP00000363136:S318F	S	+	2	0	GPR3	27593842	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	5.270000	0.65547	2.815000	0.96918	0.561000	0.74099	TCC		0.527	GPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009522.1	NM_005281		26	156	0	0	0	0	26	156				
HIVEP3	59269	broad.mit.edu	37	1	42045932	42045932	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:42045932G>A	ENST00000372583.1	-	4	5422	c.4537C>T	c.(4537-4539)Cct>Tct	p.P1513S	HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1513S|HIVEP3_ENST00000372584.1_Missense_Mutation_p.P1513S|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1513S	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1513					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGGAGGGGAGGAATTTCCTTT	0.557																																						uc001cgz.3		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(4537-4539)CCT>TCT		human immunodeficiency virus type I enhancer							89.0	100.0	96.0					1																	42045932		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42045932G>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.4537C>T	1.37:g.42045932G>A	ENSP00000361664:p.Pro1513Ser					HIVEP3_uc001cha.3_Missense_Mutation_p.P1513S|HIVEP3_uc001cgy.2_RNA	p.P1513S	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			4	5750	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1513					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.4537C>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.774853	0.00080	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.06528	3.32;3.29;3.29;3.32	5.37	0.125	0.14718	.	0.685951	0.13398	N	0.390834	T	0.03178	0.0093	L	0.27053	0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.47100	-0.9143	10	0.07175	T	0.84	-4.7047	2.7577	0.05297	0.2125:0.1192:0.5349:0.1334	.	1513;1513	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	S	1513	ENSP00000361665:P1513S;ENSP00000361664:P1513S;ENSP00000247584:P1513S;ENSP00000410828:P1513S	ENSP00000247584:P1513S	P	-	1	0	HIVEP3	41818519	0.963000	0.33076	0.001000	0.08648	0.356000	0.29392	1.473000	0.35387	-0.127000	0.11661	0.655000	0.94253	CCT		0.557	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		6	57	0	0	0	0	6	57				
IPO13	9670	broad.mit.edu	37	1	44424510	44424510	+	Silent	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:44424510T>C	ENST00000372343.3	+	11	2639	c.1977T>C	c.(1975-1977)gaT>gaC	p.D659D		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	659					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				ATGAGGATGATCATGAAGGCC	0.562																																						uc001ckx.2		NA																	0				central_nervous_system(1)	1						c.(1975-1977)GAT>GAC		importin 13							100.0	92.0	94.0					1																	44424510		2203	4300	6503	SO:0001819	synonymous_variant	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44424510T>C	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.1977T>C	1.37:g.44424510T>C							p.D659D	NM_014652	NP_055467	O94829	IPO13_HUMAN			11	2772	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	659			HEAT 11.		D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Silent	SNP	ENST00000372343.3	37	c.1977T>C	CCDS503.1																																																																																				0.562	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		11	78	0	0	0	0	11	78				
ZNF644	84146	broad.mit.edu	37	1	91404992	91404992	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:91404992G>C	ENST00000370440.1	-	3	2136	c.1919C>G	c.(1918-1920)aCt>aGt	p.T640S	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.T640S|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	640					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TAATGTTTTAGTGCTATCACT	0.348																																						uc001dnw.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(1918-1920)ACT>AGT		zinc finger protein 644 isoform 1							148.0	144.0	145.0					1																	91404992		2203	4300	6503	SO:0001583	missense	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91404992G>C	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.1919C>G	1.37:g.91404992G>C	ENSP00000359469:p.Thr640Ser					ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.T640S	p.T640S	NM_201269	NP_958357	Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	2061	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	640					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	c.1919C>G	CCDS731.1	.	.	.	.	.	.	.	.	.	.	G	7.935	0.741602	0.15642	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000536941	T;T	0.00597	6.31;6.31	6.02	6.02	0.97574	.	0.591860	0.18652	N	0.134971	T	0.00271	0.0008	L	0.36672	1.1	0.49687	D	0.999811	B	0.14805	0.011	B	0.15870	0.014	T	0.54589	-0.8271	10	0.07813	T	0.8	-2.0692	15.2844	0.73816	0.0:0.0:0.8599:0.14	.	640	Q9H582	ZN644_HUMAN	S	640;640;212	ENSP00000359469:T640S;ENSP00000337008:T640S	ENSP00000337008:T640S	T	-	2	0	ZNF644	91177580	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.680000	0.68168	2.850000	0.98022	0.650000	0.86243	ACT		0.348	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		3	112	0	0	0	0	3	112				
COL11A1	1301	broad.mit.edu	37	1	103455092	103455092	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:103455092C>G	ENST00000370096.3	-	29	2688	c.2376G>C	c.(2374-2376)atG>atC	p.M792I	COL11A1_ENST00000512756.1_Missense_Mutation_p.M676I|COL11A1_ENST00000353414.4_Missense_Mutation_p.M753I|COL11A1_ENST00000358392.2_Missense_Mutation_p.M804I	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	792	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTTTTAGACCCATGTCACCTT	0.289																																						uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(2374-2376)ATG>ATC		alpha 1 type XI collagen isoform A							70.0	72.0	72.0					1																	103455092		2203	4298	6501	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.chr1:103455092C>G	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.2376G>C	1.37:g.103455092C>G	ENSP00000359114:p.Met792Ile					COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.M804I|COL11A1_uc001dun.2_Missense_Mutation_p.M753I|COL11A1_uc009weh.2_Missense_Mutation_p.M676I	p.M792I	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	29	2694	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	792			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.2376G>C	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807798	0.70797	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.92277	0.7550	N	0.16743	0.435	0.80722	D	1	B;D;D;P	0.53745	0.387;0.962;0.962;0.936	B;D;D;P	0.66716	0.437;0.946;0.946;0.885	D	0.91871	0.5507	10	0.38643	T	0.18	.	19.2483	0.93912	0.0:1.0:0.0:0.0	.	676;753;804;792	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	I	792;804;753;676	ENSP00000359114:M792I;ENSP00000351163:M804I;ENSP00000302551:M753I;ENSP00000426533:M676I	ENSP00000302551:M753I	M	-	3	0	COL11A1	103227680	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.695000	0.74593	2.882000	0.98803	0.655000	0.94253	ATG		0.289	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		4	55	0	0	0	0	4	55				
PSRC1	84722	broad.mit.edu	37	1	109824269	109824269	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:109824269G>C	ENST00000438534.2	-	4	629	c.491C>G	c.(490-492)tCt>tGt	p.S164C	PSRC1_ENST00000369904.3_Missense_Mutation_p.S164C|PSRC1_ENST00000369909.2_Missense_Mutation_p.S164C|PSRC1_ENST00000369907.3_Missense_Mutation_p.S164C|PSRC1_ENST00000369903.2_Missense_Mutation_p.S164C|PSRC1_ENST00000409138.2_Missense_Mutation_p.S164C|PSRC1_ENST00000409267.1_Missense_Mutation_p.S164C	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	164	4 X 4 AA repeats of P-X-X-P.				microtubule bundle formation (GO:0001578)|mitotic metaphase plate congression (GO:0007080)|negative regulation of cell growth (GO:0030308)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mitotic spindle organization (GO:0060236)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	microtubule binding (GO:0008017)			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		CCTCTTTCCAGATGTAGCCCG	0.577																																						uc001dxg.2		NA																	0					0						c.(490-492)TCT>TGT		proline/serine-rich coiled-coil 1 isoform c							75.0	76.0	76.0					1																	109824269		2203	4300	6503	SO:0001583	missense	84722				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding	g.chr1:109824269G>C		CCDS797.1, CCDS30791.1	1p13.3	2008-02-05			ENSG00000134222	ENSG00000134222			24472	protein-coding gene	gene with protein product	"""differential display and activated by p53"""	613126				12427559, 10618717	Standard	NM_001032291		Approved	DDA3	uc001dxd.3	Q6PGN9	OTTHUMG00000012000	ENST00000438534.2:c.491C>G	1.37:g.109824269G>C	ENSP00000413591:p.Ser164Cys					PSRC1_uc001dxb.2_Translation_Start_Site|PSRC1_uc001dxc.2_Missense_Mutation_p.S164C|PSRC1_uc001dxd.2_Missense_Mutation_p.S164C|PSRC1_uc001dxe.2_Missense_Mutation_p.S164C|PSRC1_uc001dxf.2_Missense_Mutation_p.S164C|PSRC1_uc001dxh.2_Missense_Mutation_p.S164C|PSRC1_uc001dxi.2_Missense_Mutation_p.S164C|PSRC1_uc001dxj.2_Missense_Mutation_p.S164C	p.S164C	NM_001032290	NP_001027461	Q6PGN9	PSRC1_HUMAN		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)	4	613	-		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	164			4 X 4 AA repeats of P-X-X-P.		Q5T2Z3|Q6ZTI8|Q71MG3|Q9BV77	Missense_Mutation	SNP	ENST00000438534.2	37	c.491C>G		.	.	.	.	.	.	.	.	.	.	G	15.57	2.872259	0.51695	.	.	ENSG00000134222	ENST00000369904;ENST00000409267;ENST00000369907;ENST00000438534;ENST00000369909;ENST00000369903;ENST00000429031;ENST00000418914	T;T;T;T;T	0.54071	0.6;0.6;0.59;0.6;0.6	5.63	5.63	0.86233	.	0.243675	0.33235	N	0.005130	T	0.49012	0.1532	L	0.47716	1.5	0.35943	D	0.833324	P;D;P	0.53885	0.927;0.963;0.878	P;P;P	0.53062	0.717;0.629;0.575	T	0.51865	-0.8651	10	0.48119	T	0.1	-2.873	15.1826	0.72972	0.0:0.0:1.0:0.0	.	164;164;164	Q6PGN9;Q6PGN9-3;Q6PGN9-2	PSRC1_HUMAN;.;.	C	164	ENSP00000386323:S164C;ENSP00000358923:S164C;ENSP00000413591:S164C;ENSP00000358925:S164C;ENSP00000358919:S164C	ENSP00000358919:S164C	S	-	2	0	PSRC1	109625792	0.993000	0.37304	0.862000	0.33874	0.287000	0.27160	4.746000	0.62133	2.659000	0.90383	0.561000	0.74099	TCT		0.577	PSRC1-202	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000335567.3	NM_032636		18	84	0	0	0	0	18	84				
MOV10	4343	broad.mit.edu	37	1	113238852	113238852	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:113238852C>T	ENST00000413052.2	+	12	2252	c.1862C>T	c.(1861-1863)aCc>aTc	p.T621I	MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369644.1_Missense_Mutation_p.T565I|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000369645.1_Missense_Mutation_p.T621I|MOV10_ENST00000357443.2_Missense_Mutation_p.T621I	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	621					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GTCTTAATTACCACCCTCATC	0.532																																						uc001eck.2		NA																	0				ovary(4)|skin(1)	5						c.(1861-1863)ACC>ATC		Mov10, Moloney leukemia virus 10, homolog							49.0	44.0	46.0					1																	113238852		2203	4300	6503	SO:0001583	missense	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113238852C>T	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.1862C>T	1.37:g.113238852C>T	ENSP00000399797:p.Thr621Ile					MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Missense_Mutation_p.T621I|MOV10_uc001ecm.2_Missense_Mutation_p.T561I|MOV10_uc009wgj.1_Missense_Mutation_p.T561I	p.T621I	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	12	2132	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	621					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	c.1862C>T	CCDS853.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610122	0.87258	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.36	5.36	0.76844	.	0.096296	0.64402	D	0.000001	D	0.90689	0.7079	M	0.83953	2.67	0.80722	D	1	D;D	0.59357	0.985;0.985	D;D	0.68943	0.961;0.961	D	0.90643	0.4576	10	0.59425	D	0.04	-25.9006	18.8754	0.92332	0.0:1.0:0.0:0.0	.	565;621	Q5JR04;Q9HCE1	.;MOV10_HUMAN	I	621;621;565;621;559	ENSP00000399797:T621I;ENSP00000358659:T621I;ENSP00000358658:T565I;ENSP00000350028:T621I	ENSP00000350028:T621I	T	+	2	0	MOV10	113040375	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.147000	0.64851	2.790000	0.95986	0.655000	0.94253	ACC		0.532	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		5	52	0	0	0	0	5	52				
NBPF9	400818	broad.mit.edu	37	1	144816648	144816648	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:144816648G>C	ENST00000440491.2	+	5	781	c.781G>C	c.(781-783)Gaa>Caa	p.E261Q	NBPF9_ENST00000338347.4_Missense_Mutation_p.E261Q|NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000468645.1_3'UTR	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	519						cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						CTCTCATGTTGAACGGGAAGA	0.458																																						uc009wig.1		NA																	0					0						c.(1555-1557)GAA>CAA		hypothetical protein LOC400818							287.0	216.0	238.0					1																	144816648		692	1591	2283	SO:0001583	missense	400818					cytoplasm		g.chr1:144816648G>C		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.781G>C	1.37:g.144816648G>C	ENSP00000390934:p.Glu261Gln					NBPF9_uc010oxn.1_Intron|NBPF9_uc010oxo.1_Missense_Mutation_p.E519Q|NBPF9_uc010oxr.1_Intron|NBPF9_uc010oxt.1_Intron|NBPF9_uc001ekg.1_Intron|NBPF9_uc001ekk.1_Intron|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF9_uc009wii.1_Missense_Mutation_p.E248Q|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|NBPF9_uc001elp.2_Missense_Mutation_p.E179Q	p.E519Q	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN			13	1631	+			519			NBPF 2.			Missense_Mutation	SNP	ENST00000440491.2	37	c.1555G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	4.370|4.370	0.068153|0.068153	0.08436|0.08436	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000338347;ENST00000440491|ENST00000375552	T;T|.	0.03330|.	3.97;3.97|.	0.723|0.723	-1.45|-1.45	0.08828|0.08828	DUF1220 (1);|.	.|.	.|.	.|.	.|.	T|T	0.07007|0.07007	0.0178|0.0178	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999998|0.999998	D;P|.	0.62365|.	0.991;0.86|.	D;B|.	0.77004|.	0.989;0.181|.	T|T	0.36986|0.36986	-0.9725|-0.9725	8|4	0.18710|.	T|.	0.47|.	.|.	1.6888|1.6888	0.02847|0.02847	0.2607:0.0:0.4123:0.3269|0.2607:0.0:0.4123:0.3269	.|.	519;259|.	Q3BBV1;A2BGT5|.	NBPFK_HUMAN;.|.	Q|F	261|259	ENSP00000342975:E261Q;ENSP00000390934:E261Q|.	ENSP00000342975:E261Q|.	E|L	+|+	1|3	0|2	NBPF9|NBPF9	143528005|143528005	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.740000|-0.740000	0.04861|0.04861	-0.736000|-0.736000	0.04831|0.04831	-1.055000|-1.055000	0.02315|0.02315	GAA|TTG		0.458	NBPF9-203	KNOWN	basic	protein_coding	protein_coding		NM_001037675		39	275	0	0	0	0	39	275				
CTSS	1520	broad.mit.edu	37	1	150722557	150722557	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:150722557C>T	ENST00000368985.3	-	6	978	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	CTSS_ENST00000448301.2_Missense_Mutation_p.E190K|CTSS_ENST00000480760.1_Intron	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	240					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			GCCACAGCTTCTTTCAGGACA	0.393																																						uc001evn.2		NA																	0					0						c.(718-720)GAA>AAA		cathepsin S preproprotein							103.0	85.0	91.0					1																	150722557		2203	4300	6503	SO:0001583	missense	1520				immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity	g.chr1:150722557C>T	M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"""Cathepsins"""	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.718G>A	1.37:g.150722557C>T	ENSP00000357981:p.Glu240Lys					CTSS_uc010pcj.1_Missense_Mutation_p.E190K|CTSS_uc001evo.1_Missense_Mutation_p.E240K	p.E240K	NM_004079	NP_004070	P25774	CATS_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)		6	851	-	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		240					B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Missense_Mutation	SNP	ENST00000368985.3	37	c.718G>A	CCDS968.1	.	.	.	.	.	.	.	.	.	.	C	3.433	-0.115712	0.06881	.	.	ENSG00000163131	ENST00000448301;ENST00000368985	D;D	0.86694	-2.16;-2.16	5.71	5.71	0.89125	Peptidase C1A, papain C-terminal (2);	0.254079	0.44688	D	0.000421	T	0.53562	0.1804	N	0.03000	-0.44	0.46678	D	0.999154	P;B	0.37864	0.61;0.01	B;B	0.36922	0.236;0.037	T	0.69243	-0.5196	10	0.02654	T	1	.	14.0897	0.64982	0.0:0.8494:0.1506:0.0	.	190;240	B4DWC9;P25774	.;CATS_HUMAN	K	190;240	ENSP00000408414:E190K;ENSP00000357981:E240K	ENSP00000357981:E240K	E	-	1	0	CTSS	148989181	0.998000	0.40836	1.000000	0.80357	0.344000	0.29017	2.201000	0.42734	2.701000	0.92244	0.591000	0.81541	GAA		0.393	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084737.1	NM_004079		8	29	0	0	0	0	8	29				
FLAD1	80308	broad.mit.edu	37	1	154956218	154956218	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:154956218G>C	ENST00000292180.3	+	1	370	c.48G>C	c.(46-48)agG>agC	p.R16S	FLAD1_ENST00000368433.1_Missense_Mutation_p.R16S|FLAD1_ENST00000487371.1_Intron|FLAD1_ENST00000368432.1_Intron|FLAD1_ENST00000315144.10_Intron|FLAD1_ENST00000368431.3_Intron	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	16					FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	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)			AGGAACAAAGGAGTCGCTTGT	0.478																																						uc001fgf.1		NA																	0				ovary(2)|skin(1)	3						c.(46-48)AGG>AGC		flavin adenine dinucleotide synthetase isoform							107.0	107.0	107.0					1																	154956218		2203	4300	6503	SO:0001583	missense	80308				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity	g.chr1:154956218G>C		CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"""Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)"", ""FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)"", ""flavin adenine dinucleotide synthetase"""				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.48G>C	1.37:g.154956218G>C	ENSP00000292180:p.Arg16Ser					FLAD1_uc001fgc.2_Intron|FLAD1_uc001fgd.1_Missense_Mutation_p.R16S|FLAD1_uc001fge.1_Intron|FLAD1_uc001fgg.1_Intron	p.R16S	NM_025207	NP_079483	Q8NFF5	FAD1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		1	402	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		16					Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Missense_Mutation	SNP	ENST00000292180.3	37	c.48G>C	CCDS1078.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914840	0.33815	.	.	ENSG00000160688	ENST00000368433;ENST00000292180	.	.	.	3.14	-2.62	0.06152	.	.	.	.	.	T	0.04770	0.0129	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.34976	-0.9807	8	0.87932	D	0	-2.7913	0.6276	0.00789	0.3276:0.1681:0.3327:0.1716	.	16	Q8NFF5	FAD1_HUMAN	S	16	.	ENSP00000292180:R16S	R	+	3	2	FLAD1	153222842	0.000000	0.05858	0.000000	0.03702	0.307000	0.27823	-0.446000	0.06837	-0.574000	0.05990	-0.215000	0.12644	AGG		0.478	FLAD1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091089.1	NM_025207		4	75	0	0	0	0	4	75				
RUSC1	23623	broad.mit.edu	37	1	155296505	155296505	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:155296505G>C	ENST00000368352.5	+	8	2147	c.1996G>C	c.(1996-1998)Gag>Cag	p.E666Q	RUSC1_ENST00000368354.3_Intron|RUSC1_ENST00000368347.4_Missense_Mutation_p.E256Q|RUSC1_ENST00000368349.4_Missense_Mutation_p.E197Q|RUSC1_ENST00000292254.4_Missense_Mutation_p.E197Q|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000462780.1_3'UTR|RUSC1-AS1_ENST00000450199.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	666	Interaction with IKBKG.|RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CCTGCTCTTTGAGCACCACCA	0.642																																						uc001fkj.2		NA																	0				ovary(2)	2						c.(1996-1998)GAG>CAG		RUN and SH3 domain containing 1 isoform a							55.0	59.0	58.0					1																	155296505		2203	4300	6503	SO:0001583	missense	23623					cytoplasm|nucleolus	SH3/SH2 adaptor activity	g.chr1:155296505G>C	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.1996G>C	1.37:g.155296505G>C	ENSP00000357336:p.Glu666Gln					RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fki.2_5'Flank|RUSC1_uc001fkk.2_Intron|RUSC1_uc009wqn.1_Intron|RUSC1_uc009wqo.1_Missense_Mutation_p.E197Q|RUSC1_uc001fkl.2_Missense_Mutation_p.E256Q|RUSC1_uc001fkp.2_Missense_Mutation_p.E197Q|RUSC1_uc001fkq.2_Intron|RUSC1_uc010pgb.1_Missense_Mutation_p.E164Q|RUSC1_uc009wqp.1_Missense_Mutation_p.E191Q|RUSC1_uc001fkn.2_5'UTR|RUSC1_uc001fko.2_Intron|RUSC1_uc001fkr.2_Missense_Mutation_p.E197Q|RUSC1_uc001fks.2_5'UTR	p.E666Q	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		8	2225	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		666			RUN.		B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	ENST00000368352.5	37	c.1996G>C	CCDS41410.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.495392	0.44352	.	.	ENSG00000160753	ENST00000368352;ENST00000368347;ENST00000368349;ENST00000292254	T;T;T;T	0.38887	1.61;1.12;1.11;1.11	4.27	4.27	0.50696	RUN (1);	0.000000	0.47455	D	0.000222	T	0.22859	0.0552	N	0.17345	0.48	0.41594	D	0.988815	P;P;P;B	0.45827	0.791;0.867;0.791;0.392	P;P;P;B	0.51297	0.464;0.665;0.562;0.376	T	0.02661	-1.1127	10	0.10377	T	0.69	-26.004	15.9965	0.80250	0.0:0.0:1.0:0.0	.	164;197;256;666	B4DQB8;Q9BVN2-2;Q5T9V0;Q9BVN2	.;.;.;RUSC1_HUMAN	Q	666;256;197;197	ENSP00000357336:E666Q;ENSP00000357331:E256Q;ENSP00000357333:E197Q;ENSP00000292254:E197Q	ENSP00000292254:E197Q	E	+	1	0	RUSC1	153563129	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	2.902000	0.48703	2.367000	0.80283	0.591000	0.81541	GAG		0.642	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			22	89	0	0	0	0	22	89				
FCRL4	83417	broad.mit.edu	37	1	157556033	157556033	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:157556033C>A	ENST00000271532.1	-	6	1195	c.1060G>T	c.(1060-1062)Gca>Tca	p.A354S	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	354	Ig-like C2-type 4.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TATCCCCCTGCATGGCTCTGT	0.537																																						uc001fqw.2		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(1060-1062)GCA>TCA		Fc receptor-like 4 precursor							107.0	94.0	99.0					1																	157556033		2203	4300	6503	SO:0001583	missense	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157556033C>A	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.1060G>T	1.37:g.157556033C>A	ENSP00000271532:p.Ala354Ser					FCRL4_uc010phy.1_RNA	p.A354S	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN			6	1196	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	354			Ig-like C2-type 4.|Extracellular (Potential).		Q96PJ3|Q96RE0	Missense_Mutation	SNP	ENST00000271532.1	37	c.1060G>T	CCDS1166.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.252569	0.22880	.	.	ENSG00000163518	ENST00000271532	T	0.11063	2.81	4.01	-2.77	0.05877	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	2.074600	0.02821	N	0.125549	T	0.04907	0.0132	L	0.55481	1.735	0.09310	N	1	P	0.46621	0.881	P	0.54590	0.756	T	0.38628	-0.9652	10	0.02654	T	1	.	4.341	0.11110	0.1626:0.3377:0.0:0.4997	.	354	Q96PJ5	FCRL4_HUMAN	S	354	ENSP00000271532:A354S	ENSP00000271532:A354S	A	-	1	0	FCRL4	155822657	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-0.401000	0.07232	-0.772000	0.04602	0.467000	0.42956	GCA		0.537	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		5	106	1	0	3.6e-05	6.2e-05	5	106				
MNDA	4332	broad.mit.edu	37	1	158817562	158817562	+	Silent	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:158817562T>C	ENST00000368141.4	+	6	1293	c.1032T>C	c.(1030-1032)aaT>aaC	p.N344N		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	344	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TACAGGATAATACAGGATCCA	0.378																																						uc001fsz.1		NA																	0				ovary(2)|skin(2)	4						c.(1030-1032)AAT>AAC		myeloid cell nuclear differentiation antigen							130.0	126.0	128.0					1																	158817562		2203	4300	6503	SO:0001819	synonymous_variant	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158817562T>C	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.1032T>C	1.37:g.158817562T>C							p.N344N	NM_002432	NP_002423	P41218	MNDA_HUMAN			6	1232	+	all_hematologic(112;0.0378)		344			HIN-200.			Silent	SNP	ENST00000368141.4	37	c.1032T>C	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	T	4.680	0.126526	0.08931	.	.	ENSG00000163563	ENST00000438394	.	.	.	3.81	-3.59	0.04583	.	.	.	.	.	T	0.07007	0.0178	.	.	.	0.23577	N	0.997378	.	.	.	.	.	.	T	0.34229	-0.9837	4	.	.	.	-4.0499	2.8998	0.05701	0.3359:0.316:0.0:0.3481	.	.	.	.	H	50	.	.	Y	+	1	0	MNDA	157084186	0.000000	0.05858	0.044000	0.18714	0.114000	0.19823	-2.487000	0.00977	-0.895000	0.03920	0.460000	0.39030	TAC		0.378	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		12	73	0	0	0	0	12	73				
ABL2	27	broad.mit.edu	37	1	179077353	179077353	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:179077353C>G	ENST00000502732.1	-	12	3252	c.3049G>C	c.(3049-3051)Gaa>Caa	p.E1017Q	ABL2_ENST00000512653.1_Missense_Mutation_p.E1002Q|ABL2_ENST00000507173.1_Missense_Mutation_p.E893Q|ABL2_ENST00000511413.1_Missense_Mutation_p.E914Q|ABL2_ENST00000367623.4_Missense_Mutation_p.E996Q|ABL2_ENST00000344730.3_Missense_Mutation_p.E899Q|ABL2_ENST00000504405.1_Missense_Mutation_p.E878Q|ABL2_ENST00000408940.3_Missense_Mutation_p.E981Q	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	1017	Pro-rich.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TCCTGTGTTTCTGATGTGGAC	0.587			T	ETV6	AML																																	uc001gmj.3		NA		Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14						c.(3049-3051)GAA>CAA		arg tyrosine kinase isoform b	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						113.0	109.0	111.0					1																	179077353		2203	4300	6503	SO:0001583	missense	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179077353C>G	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.3049G>C	1.37:g.179077353C>G	ENSP00000427562:p.Glu1017Gln					ABL2_uc010pnf.1_Missense_Mutation_p.E914Q|ABL2_uc010png.1_Missense_Mutation_p.E893Q|ABL2_uc010pnh.1_Missense_Mutation_p.E996Q|ABL2_uc001gmg.3_Missense_Mutation_p.E899Q|ABL2_uc001gmi.3_Missense_Mutation_p.E1002Q|ABL2_uc001gmh.3_Missense_Mutation_p.E981Q|ABL2_uc010pne.1_Missense_Mutation_p.E878Q	p.E1017Q	NM_007314	NP_009298	P42684	ABL2_HUMAN			12	3336	-			1017			Pro-rich.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	c.3049G>C	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	C	0.112	-1.137629	0.01742	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413	T;T;T;T;T;T;T;T	0.74002	-0.76;-0.74;-0.8;-0.74;-0.8;-0.75;-0.8;-0.8	5.5	5.5	0.81552	.	0.000000	0.52532	D	0.000062	T	0.54775	0.1879	N	0.08118	0	0.26254	N	0.978687	B;P;P;B;B;B;B;B	0.37276	0.066;0.589;0.589;0.0;0.04;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.35813	0.03;0.164;0.211;0.002;0.013;0.001;0.001;0.002	T	0.45963	-0.9225	10	0.13853	T	0.58	.	16.9211	0.86164	0.0:1.0:0.0:0.0	.	996;893;914;878;1017;1002;981;899	P42684-6;P42684-7;P42684-5;P42684-4;P42684;P42684-3;D1MPS6;P42684-10	.;.;.;.;ABL2_HUMAN;.;.;.	Q	1017;981;899;1002;878;996;893;914	ENSP00000427562:E1017Q;ENSP00000386152:E981Q;ENSP00000339209:E899Q;ENSP00000423578:E1002Q;ENSP00000426831:E878Q;ENSP00000356595:E996Q;ENSP00000423413:E893Q;ENSP00000424697:E914Q	ENSP00000339209:E899Q	E	-	1	0	ABL2	177343976	1.000000	0.71417	0.998000	0.56505	0.674000	0.39518	3.201000	0.51059	2.735000	0.93741	0.655000	0.94253	GAA		0.587	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		19	119	0	0	0	0	19	119				
ZNF281	23528	broad.mit.edu	37	1	200376835	200376835	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:200376835C>G	ENST00000294740.3	-	2	2123	c.1999G>C	c.(1999-2001)Gaa>Caa	p.E667Q	ZNF281_ENST00000367353.1_Missense_Mutation_p.E667Q|ZNF281_ENST00000367352.3_Missense_Mutation_p.E631Q	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	667					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						TTGGAGTATTCTTGCAACATA	0.403																																						uc001gve.2		NA																	0				ovary(1)|breast(1)	2						c.(1999-2001)GAA>CAA		zinc finger protein 281							122.0	131.0	128.0					1																	200376835		2203	4300	6503	SO:0001583	missense	23528				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200376835C>G	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.1999G>C	1.37:g.200376835C>G	ENSP00000294740:p.Glu667Gln					ZNF281_uc001gvf.1_Missense_Mutation_p.E667Q|ZNF281_uc001gvg.1_Missense_Mutation_p.E631Q	p.E667Q	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN			2	2106	-			667					A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	37	c.1999G>C	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.704265	0.48412	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.48201	0.82;0.82;0.82	5.54	5.54	0.83059	.	0.049841	0.85682	D	0.000000	T	0.59101	0.2169	M	0.65975	2.015	0.58432	D	0.999999	P;P	0.51240	0.943;0.866	P;P	0.48982	0.597;0.5	T	0.63980	-0.6514	10	0.87932	D	0	-9.652	19.4807	0.95008	0.0:1.0:0.0:0.0	.	631;667	A6NF48;Q9Y2X9	.;ZN281_HUMAN	Q	667;667;631;372	ENSP00000294740:E667Q;ENSP00000356322:E667Q;ENSP00000356321:E631Q	ENSP00000294740:E667Q	E	-	1	0	ZNF281	198643458	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.814000	0.86154	2.597000	0.87782	0.655000	0.94253	GAA		0.403	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482		8	91	0	0	0	0	8	91				
ZNF281	23528	broad.mit.edu	37	1	200377024	200377024	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:200377024C>A	ENST00000294740.3	-	2	1934	c.1810G>T	c.(1810-1812)Gat>Tat	p.D604Y	ZNF281_ENST00000367353.1_Missense_Mutation_p.D604Y|ZNF281_ENST00000367352.3_Missense_Mutation_p.D568Y	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	604					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						AAAACCTCATCAGGAATTCCA	0.388																																						uc001gve.2		NA																	0				ovary(1)|breast(1)	2						c.(1810-1812)GAT>TAT		zinc finger protein 281							76.0	75.0	75.0					1																	200377024		2203	4300	6503	SO:0001583	missense	23528				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200377024C>A	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.1810G>T	1.37:g.200377024C>A	ENSP00000294740:p.Asp604Tyr					ZNF281_uc001gvf.1_Missense_Mutation_p.D604Y|ZNF281_uc001gvg.1_Missense_Mutation_p.D568Y	p.D604Y	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN			2	1917	-			604					A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	37	c.1810G>T	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272068	0.59649	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.55760	0.5;0.5;0.5	5.76	5.76	0.90799	.	0.046485	0.85682	D	0.000000	T	0.73481	0.3592	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72625	0.978;0.978	T	0.75013	-0.3467	10	0.87932	D	0	-7.3106	19.967	0.97274	0.0:1.0:0.0:0.0	.	568;604	A6NF48;Q9Y2X9	.;ZN281_HUMAN	Y	604;604;568;309	ENSP00000294740:D604Y;ENSP00000356322:D604Y;ENSP00000356321:D568Y	ENSP00000294740:D604Y	D	-	1	0	ZNF281	198643647	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.714000	0.92807	0.655000	0.94253	GAT		0.388	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482		7	52	1	0	2.77e-08	4.92e-08	7	52				
PPP1R15B	84919	broad.mit.edu	37	1	204378784	204378784	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:204378784G>A	ENST00000367188.4	-	1	2135	c.1756C>T	c.(1756-1758)Cgt>Tgt	p.R586C	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	586					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			TTTGAGTCACGACAGCCTTTC	0.438																																						uc001hav.3		NA																	0				ovary(1)|pancreas(1)	2						c.(1756-1758)CGT>TGT		protein phosphatase 1, regulatory subunit 15B							81.0	78.0	79.0					1																	204378784		2203	4300	6503	SO:0001583	missense	84919				regulation of translation			g.chr1:204378784G>A	AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14951	protein-coding gene	gene with protein product		613257	"""protein phosphatase 1, regulatory (inhibitor) subunit 15B"""			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.1756C>T	1.37:g.204378784G>A	ENSP00000356156:p.Arg586Cys						p.R586C	NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)		1	2161	-	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		586					Q53GQ4|Q658M2|Q6P156|Q96SN1	Missense_Mutation	SNP	ENST00000367188.4	37	c.1756C>T	CCDS1445.1	.	.	.	.	.	.	.	.	.	.	G	4.041	0.005308	0.07866	.	.	ENSG00000158615	ENST00000367188;ENST00000543650	T	0.24350	1.86	5.39	0.914	0.19360	Protein phosphatase 1, regulatory subunit 15A/B, C-terminal (1);	1.672090	0.02612	N	0.102262	T	0.17577	0.0422	N	0.15975	0.35	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.25916	-1.0118	10	0.46703	T	0.11	1.3185	7.9787	0.30170	0.481:0.0:0.519:0.0	.	586	Q5SWA1	PR15B_HUMAN	C	586;496	ENSP00000356156:R586C	ENSP00000356156:R586C	R	-	1	0	PPP1R15B	202645407	0.000000	0.05858	0.006000	0.13384	0.077000	0.17291	-0.402000	0.07223	0.266000	0.21894	-0.140000	0.14226	CGT		0.438	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1	NM_032833		4	54	0	0	0	0	4	54				
USH2A	7399	broad.mit.edu	37	1	215823958	215823958	+	Silent	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:215823958G>A	ENST00000307340.3	-	65	14705	c.14319C>T	c.(14317-14319)agC>agT	p.S4773S	USH2A_ENST00000366943.2_Silent_p.S4773S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4773	Fibronectin type-III 33. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CATGGGCGCTGCTGGAGAACA	0.493										HNSCC(13;0.011)																												uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(14317-14319)AGC>AGT		usherin isoform B							76.0	76.0	76.0					1																	215823958		2203	4300	6503	SO:0001819	synonymous_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.chr1:215823958G>A	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.14319C>T	1.37:g.215823958G>A		HNSCC(13;0.011)					p.S4773S	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	65	14706	-			4773			Fibronectin type-III 33.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.14319C>T	CCDS31025.1																																																																																				0.493	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		15	88	0	0	0	0	15	88				
TP53BP2	7159	broad.mit.edu	37	1	223987709	223987709	+	De_novo_Start_OutOfFrame	SNP	T	T	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr1:223987709T>A	ENST00000391879.2	-	0	67				TP53BP2_ENST00000391878.2_Missense_Mutation_p.K330N|TP53BP2_ENST00000343537.7_Missense_Mutation_p.K459N|TP53BP2_ENST00000498843.1_5'UTR			Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2						cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		ACGGACGCACTTTCTTCTCTT	0.428																																						uc010pvb.1		NA																	0				ovary(2)|lung(1)	3						c.(1375-1377)AAA>AAT		tumor protein p53 binding protein, 2 isoform 1							199.0	169.0	179.0					1																	223987709		2203	4300	6503			7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:223987709T>A	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000391879.2:c.-462A>T	1.37:g.223987709T>A						TP53BP2_uc001hod.2_Missense_Mutation_p.K330N|TP53BP2_uc010puz.1_Translation_Start_Site|TP53BP2_uc010pva.1_Missense_Mutation_p.K98N	p.K459N	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	11	1669	-			453					B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	ENST00000391879.2	37	c.1377A>T		.	.	.	.	.	.	.	.	.	.	T	11.91	1.780373	0.31502	.	.	ENSG00000143514	ENST00000391878;ENST00000343537	T;T	0.54675	0.56;0.76	5.8	-2.4	0.06583	.	0.090275	0.85682	D	0.000000	T	0.52025	0.1709	M	0.67953	2.075	0.80722	D	1	P;D	0.54772	0.953;0.968	P;B	0.47744	0.556;0.439	T	0.54741	-0.8248	10	0.20519	T	0.43	.	15.2925	0.73875	0.0:0.4605:0.0:0.5395	.	459;453	B4DG66;Q13625	.;ASPP2_HUMAN	N	330;459	ENSP00000375750:K330N;ENSP00000341957:K459N	ENSP00000341957:K459N	K	-	3	2	TP53BP2	222054332	0.993000	0.37304	0.481000	0.27354	0.082000	0.17680	0.227000	0.17795	-1.123000	0.02940	-1.450000	0.01041	AAA		0.428	TP53BP2-201	KNOWN	basic	protein_coding	protein_coding		NM_001031685, NM_005426		5	51	0	0	0	0	5	51				
GPR158	57512	broad.mit.edu	37	10	25701358	25701358	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr10:25701358G>A	ENST00000376351.3	+	4	1650	c.1291G>A	c.(1291-1293)Gac>Aac	p.D431N		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	431					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TATGCTGCTCGACTTCGTTAG	0.488																																						uc001isj.2		NA																	0				ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(1291-1293)GAC>AAC		G protein-coupled receptor 158 precursor							207.0	177.0	187.0					10																	25701358		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25701358G>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1291G>A	10.37:g.25701358G>A	ENSP00000365529:p.Asp431Asn						p.D431N	NM_020752	NP_065803	Q5T848	GP158_HUMAN			4	1351	+			431			Helical; Name=1; (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.1291G>A	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	35	5.536240	0.96460	.	.	ENSG00000151025	ENST00000376351	T	0.60299	0.2	6.16	6.16	0.99307	GPCR, family 3, C-terminal (2);	0.000000	0.64402	D	0.000001	T	0.74801	0.3764	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	T	0.73266	-0.4037	10	0.62326	D	0.03	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	431	Q5T848	GP158_HUMAN	N	431	ENSP00000365529:D431N	ENSP00000365529:D431N	D	+	1	0	GPR158	25741364	1.000000	0.71417	0.970000	0.41538	0.959000	0.62525	9.252000	0.95491	2.937000	0.99478	0.650000	0.86243	GAC		0.488	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		8	175	0	0	0	0	8	175				
ZNF33B	7582	broad.mit.edu	37	10	43089160	43089160	+	Missense_Mutation	SNP	T	T	C	rs201974774	byFrequency	TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr10:43089160T>C	ENST00000359467.3	-	5	1352	c.1238A>G	c.(1237-1239)tAt>tGt	p.Y413C	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						ATTACACTGATAGGGTTTCTC	0.423													T|||	2	0.000399361	0.0	0.0	5008	,	,		20889	0.002		0.0	False		,,,				2504	0.0				Melanoma(137;1247 1767 16772 25727 43810)	uc001jaf.1		NA																	0					0						c.(1237-1239)TAT>TGT		zinc finger protein 33B							101.0	107.0	105.0					10																	43089160		2203	4300	6503	SO:0001583	missense	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43089160T>C	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.1238A>G	10.37:g.43089160T>C	ENSP00000352444:p.Tyr413Cys					ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.Y301C|ZNF33B_uc001jad.2_Intron	p.Y413C	NM_006955	NP_008886	Q06732	ZN33B_HUMAN			5	1353	-			413			C2H2-type 4.		Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	c.1238A>G	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	T	7.448	0.642149	0.14451	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.25414	1.8	2.41	2.41	0.29592	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32852	N	0.005574	T	0.50394	0.1613	M	0.89658	3.05	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.35375	-0.9791	10	0.72032	D	0.01	.	4.8133	0.13354	0.2764:0.0:0.0:0.7236	.	413	Q06732	ZN33B_HUMAN	C	413;379	ENSP00000352444:Y413C	ENSP00000352444:Y413C	Y	-	2	0	ZNF33B	42409166	0.000000	0.05858	0.941000	0.38009	0.378000	0.30076	-0.449000	0.06812	1.371000	0.46172	0.341000	0.21757	TAT		0.423	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		3	105	0	0	0	0	3	105				
PCDH15	65217	broad.mit.edu	37	10	55955577	55955577	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr10:55955577G>C	ENST00000320301.6	-	11	1565	c.1171C>G	c.(1171-1173)Caa>Gaa	p.Q391E	PCDH15_ENST00000437009.1_Missense_Mutation_p.Q391E|PCDH15_ENST00000395432.2_Missense_Mutation_p.Q354E|PCDH15_ENST00000373957.3_Missense_Mutation_p.Q369E|PCDH15_ENST00000414778.1_Missense_Mutation_p.Q396E|PCDH15_ENST00000409834.1_De_novo_Start_OutOfFrame|PCDH15_ENST00000395430.1_Missense_Mutation_p.Q391E|PCDH15_ENST00000373965.2_Missense_Mutation_p.Q391E|PCDH15_ENST00000395438.1_Missense_Mutation_p.Q391E|PCDH15_ENST00000373955.1_Missense_Mutation_p.Q391E|PCDH15_ENST00000361849.3_Missense_Mutation_p.Q391E|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.Q391E|PCDH15_ENST00000395440.1_Missense_Mutation_p.Q391E|PCDH15_ENST00000395433.1_Missense_Mutation_p.Q369E|PCDH15_ENST00000395445.1_Missense_Mutation_p.Q391E	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	391	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TATGGACTTTGATTGTTTTCA	0.393										HNSCC(58;0.16)																												uc001jju.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(1171-1173)CAA>GAA		protocadherin 15 isoform CD1-4 precursor							143.0	135.0	138.0					10																	55955577		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55955577G>C	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1171C>G	10.37:g.55955577G>C	ENSP00000322604:p.Gln391Glu	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.Q396E|PCDH15_uc010qhr.1_Missense_Mutation_p.Q391E|PCDH15_uc010qhs.1_Missense_Mutation_p.Q396E|PCDH15_uc010qht.1_Missense_Mutation_p.Q391E|PCDH15_uc010qhu.1_Missense_Mutation_p.Q391E|PCDH15_uc001jjv.1_Missense_Mutation_p.Q369E|PCDH15_uc010qhv.1_Missense_Mutation_p.Q391E|PCDH15_uc010qhw.1_Missense_Mutation_p.Q354E|PCDH15_uc010qhx.1_Missense_Mutation_p.Q391E|PCDH15_uc010qhy.1_Missense_Mutation_p.Q396E|PCDH15_uc010qhz.1_Missense_Mutation_p.Q391E|PCDH15_uc010qia.1_Missense_Mutation_p.Q369E|PCDH15_uc010qib.1_Missense_Mutation_p.Q369E|PCDH15_uc001jjw.2_Missense_Mutation_p.Q391E	p.Q391E	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			11	1566	-		Melanoma(3;0.117)|Lung SC(717;0.238)	391			Cadherin 3.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.1171C>G	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286267	0.80803	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26;0.35;0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26	5.17	5.17	0.71159	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.70395	0.3219	L	0.43757	1.38	0.46981	D	0.999276	D;P;B;B;D;P;D;D;D;P;D;D;D;D;P	0.71674	0.98;0.518;0.402;0.243;0.977;0.719;0.98;0.989;0.989;0.589;0.989;0.994;0.998;0.996;0.589	D;B;B;B;D;B;D;P;P;B;P;D;D;D;B	0.81914	0.974;0.443;0.235;0.168;0.983;0.443;0.974;0.896;0.896;0.298;0.896;0.928;0.995;0.989;0.298	T	0.71978	-0.4429	9	0.56958	D	0.05	.	18.2588	0.90026	0.0:0.0:1.0:0.0	.	369;391;391;396;391;354;391;391;391;391;391;396;391;369;391	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	E	391;396;391;391;391;391;391;354;391;369;369;391;391;396;391;391	ENSP00000363076:Q391E;ENSP00000410304:Q396E;ENSP00000378826:Q391E;ENSP00000378832:Q391E;ENSP00000378833:Q391E;ENSP00000378827:Q391E;ENSP00000378820:Q354E;ENSP00000354950:Q391E;ENSP00000378821:Q369E;ENSP00000363068:Q369E;ENSP00000322604:Q391E;ENSP00000378818:Q391E;ENSP00000412628:Q391E;ENSP00000363066:Q391E	ENSP00000322604:Q391E	Q	-	1	0	PCDH15	55625583	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	9.828000	0.99408	2.426000	0.82243	0.591000	0.81541	CAA		0.393	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		6	47	0	0	0	0	6	47				
ZWINT	11130	broad.mit.edu	37	10	58118574	58118574	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr10:58118574C>G	ENST00000373944.3	-	6	653	c.615G>C	c.(613-615)aaG>aaC	p.K205N	ZWINT_ENST00000318387.2_Missense_Mutation_p.K85N|ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000395405.1_Missense_Mutation_p.K205N|ZWINT_ENST00000361148.6_Intron			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	205					establishment of localization in cell (GO:0051649)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|kinetochore (GO:0000776)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						ACCTCTGCAGCTTGTCCCGCT	0.517																																						uc001jjx.1		NA																	0					0						c.(613-615)AAG>AAC		ZW10 interactor isoform a							137.0	131.0	133.0					10																	58118574		2203	4300	6503	SO:0001583	missense	11130				cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding	g.chr10:58118574C>G	AF067656	CCDS7249.1, CCDS31205.1	10q21-q22	2013-05-01	2013-05-01		ENSG00000122952	ENSG00000122952			13195	protein-coding gene	gene with protein product		609177	"""ZW10 interactor"""				Standard	XM_005269463		Approved	KNTC2AP	uc001jka.1	O95229	OTTHUMG00000018261	ENST00000373944.3:c.615G>C	10.37:g.58118574C>G	ENSP00000363055:p.Lys205Asn					ZWINT_uc001jjy.1_Intron|ZWINT_uc001jka.1_Missense_Mutation_p.K205N|ZWINT_uc009xoy.1_RNA	p.K205N	NM_007057	NP_008988	O95229	ZWINT_HUMAN			6	652	-			205			Potential.		A6NNV6|Q0D2I3|Q9BWD0	Missense_Mutation	SNP	ENST00000373944.3	37	c.615G>C	CCDS7249.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.798535	0.31777	.	.	ENSG00000122952	ENST00000373944;ENST00000395405;ENST00000318387	T;T;T	0.53423	0.62;0.62;0.62	4.48	1.07	0.20283	.	0.271361	0.26594	N	0.023517	T	0.36441	0.0967	L	0.50333	1.59	0.26671	N	0.97173	P	0.40731	0.728	B	0.38562	0.276	T	0.28459	-1.0043	10	0.72032	D	0.01	-9.333	5.5742	0.17215	0.0:0.6766:0.185:0.1384	.	205	O95229	ZWINT_HUMAN	N	205;205;85	ENSP00000363055:K205N;ENSP00000378801:K205N;ENSP00000322850:K85N	ENSP00000322850:K85N	K	-	3	2	ZWINT	57788580	0.962000	0.33011	0.883000	0.34634	0.079000	0.17450	0.257000	0.18369	0.221000	0.20879	0.655000	0.94253	AAG		0.517	ZWINT-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048132.1			20	138	0	0	0	0	20	138				
DLG5	9231	broad.mit.edu	37	10	79570931	79570931	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr10:79570931C>G	ENST00000372391.2	-	23	4389	c.4384G>C	c.(4384-4386)Gag>Cag	p.E1462Q	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.E1122Q	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1462					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GATGGATGCTCCGGGGTGGTG	0.637																																						uc001jzk.2		NA																	0				ovary(5)|breast(3)	8						c.(4384-4386)GAG>CAG		discs large homolog 5							104.0	99.0	101.0					10																	79570931		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79570931C>G	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.4384G>C	10.37:g.79570931C>G	ENSP00000361467:p.Glu1462Gln					DLG5_uc001jzi.2_Missense_Mutation_p.E217Q|DLG5_uc001jzj.2_Missense_Mutation_p.E877Q|DLG5_uc009xru.1_RNA	p.E1462Q	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		23	4454	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1462					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.4384G>C	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496504	0.64186	.	.	ENSG00000151208	ENST00000372391;ENST00000424842;ENST00000372388	T;T;T	0.05649	3.62;3.41;3.63	5.3	5.3	0.74995	.	0.000000	0.39544	N	0.001338	T	0.12860	0.0312	L	0.29908	0.895	0.44694	D	0.99768	D;D	0.64830	0.957;0.994	P;P	0.59221	0.608;0.854	T	0.29761	-1.0001	10	0.16896	T	0.51	.	19.3171	0.94218	0.0:1.0:0.0:0.0	.	1462;1122	Q8TDM6;Q8TDM6-2	DLG5_HUMAN;.	Q	1462;423;1122	ENSP00000361467:E1462Q;ENSP00000394797:E423Q;ENSP00000361464:E1122Q	ENSP00000361464:E1122Q	E	-	1	0	DLG5	79240937	1.000000	0.71417	0.981000	0.43875	0.123000	0.20343	7.439000	0.80444	2.631000	0.89168	0.561000	0.74099	GAG		0.637	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			14	79	0	0	0	0	14	79				
GRID1	2894	broad.mit.edu	37	10	87966143	87966143	+	Silent	SNP	G	G	T	rs61744114		TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr10:87966143G>T	ENST00000327946.7	-	3	583	c.498C>A	c.(496-498)gtC>gtA	p.V166V		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	166					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CGTAGAACATGACGAACTTCT	0.622										Multiple Myeloma(13;0.14)																												uc001kdl.1		NA																	0				ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(496-498)GTC>GTA		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						112.0	86.0	95.0					10																	87966143		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.chr10:87966143G>T	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.498C>A	10.37:g.87966143G>T		Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA	p.V166V	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			3	599	-			166			Extracellular (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	ENST00000327946.7	37	c.498C>A	CCDS31236.1																																																																																				0.622	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		11	39	1	0	3.04e-14	5.49e-14	11	39				
SEC31B	25956	broad.mit.edu	37	10	102249138	102249138	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr10:102249138C>T	ENST00000370345.3	-	23	3139	c.3042G>A	c.(3040-3042)atG>atA	p.M1014I		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	1014	Pro-rich.				protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GTGCTGGGGGCATAAATGTCT	0.527																																						uc001krc.1		NA																	0				ovary(1)	1						c.(3040-3042)ATG>ATA		SEC31 homolog B							62.0	68.0	66.0					10																	102249138		2203	4300	6503	SO:0001583	missense	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102249138C>T	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.3042G>A	10.37:g.102249138C>T	ENSP00000359370:p.Met1014Ile					SEC31B_uc010qpo.1_Missense_Mutation_p.M1013I|SEC31B_uc001krd.1_Missense_Mutation_p.M551I|SEC31B_uc001krf.1_Missense_Mutation_p.M446I|SEC31B_uc001kre.1_Missense_Mutation_p.M446I	p.M1014I	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	23	3144	-		Colorectal(252;0.117)	1014			Pro-rich.		B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	ENST00000370345.3	37	c.3042G>A	CCDS7495.1	.	.	.	.	.	.	.	.	.	.	C	2.905	-0.226746	0.06022	.	.	ENSG00000075826	ENST00000370345	T	0.50277	0.75	4.68	1.55	0.23275	.	0.272859	0.41097	D	0.000952	T	0.35128	0.0921	L	0.54323	1.7	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.002	T	0.11372	-1.0590	10	0.30078	T	0.28	-2.6283	4.2826	0.10839	0.3034:0.4979:0.0:0.1988	.	1013;1014	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	I	1014	ENSP00000359370:M1014I	ENSP00000359370:M1014I	M	-	3	0	SEC31B	102239128	0.703000	0.27826	0.947000	0.38551	0.060000	0.15804	-0.066000	0.11598	0.602000	0.29896	-0.254000	0.11334	ATG		0.527	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		9	43	0	0	0	0	9	43				
STK33	65975	broad.mit.edu	37	11	8414087	8414087	+	Silent	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr11:8414087G>A	ENST00000447869.1	-	12	2433	c.1515C>T	c.(1513-1515)ggC>ggT	p.G505G	STK33_ENST00000473980.1_5'UTR|STK33_ENST00000396672.1_Silent_p.G505G|STK33_ENST00000534493.1_Silent_p.G464G|STK33_ENST00000358872.3_Silent_p.G318G|STK33_ENST00000315204.1_Silent_p.G505G|STK33_ENST00000396673.1_Silent_p.G439G			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	505					protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TGGACAGGGCGCCGGATTTAG	0.483																																						uc001mgi.1		NA																	0				ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(1513-1515)GGC>GGT		serine/threonine kinase 33							212.0	205.0	208.0					11																	8414087		2201	4296	6497	SO:0001819	synonymous_variant	65975					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:8414087G>A	AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.1515C>T	11.37:g.8414087G>A						STK33_uc001mgj.1_Silent_p.G505G|STK33_uc001mgk.1_Silent_p.G505G|STK33_uc010rbn.1_Silent_p.G464G|STK33_uc001mgl.3_Silent_p.G318G	p.G505G	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN		Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)	12	2434	-			505					Q658S6|Q8NEF5	Silent	SNP	ENST00000447869.1	37	c.1515C>T	CCDS7789.1																																																																																				0.483	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276819.2	NM_030906		34	201	0	0	0	0	34	201				
RAG1	5896	broad.mit.edu	37	11	36597850	36597850	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr11:36597850C>G	ENST00000299440.5	+	2	3108	c.2996C>G	c.(2995-2997)tCc>tGc	p.S999C		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	999					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TTGTACACCTCCAAATACCTC	0.448									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc001mwu.3		NA																	0				ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5						c.(2995-2997)TCC>TGC		recombination activating gene 1							91.0	90.0	90.0					11																	36597850		2202	4298	6500	SO:0001583	missense	5896	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36597850C>G	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2996C>G	11.37:g.36597850C>G	ENSP00000299440:p.Ser999Cys					RAG1_uc001mwt.2_Intron	p.S999C	NM_000448	NP_000439	P15918	RAG1_HUMAN			2	3120	+	all_lung(20;0.226)	all_hematologic(20;0.107)	999					E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.2996C>G	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544621	0.65198	.	.	ENSG00000166349	ENST00000299440	T	0.80653	-1.4	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.88355	0.6414	L	0.58101	1.795	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.86306	0.1683	9	.	.	.	.	20.1028	0.97881	0.0:1.0:0.0:0.0	.	999	P15918	RAG1_HUMAN	C	999	ENSP00000299440:S999C	.	S	+	2	0	RAG1	36554426	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.445000	0.80570	2.827000	0.97445	0.644000	0.83932	TCC		0.448	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		14	73	0	0	0	0	14	73				
OR5F1	338674	broad.mit.edu	37	11	55761664	55761664	+	Silent	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr11:55761664G>A	ENST00000278409.1	-	1	437	c.438C>T	c.(436-438)gcC>gcT	p.A146A		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	146					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CAAAAGCCCCGGCTGCCATTT	0.502																																						uc010riv.1		NA																	0				ovary(1)|pancreas(1)	2						c.(436-438)GCC>GCT		olfactory receptor, family 5, subfamily F,							41.0	43.0	43.0					11																	55761664		2201	4296	6497	SO:0001819	synonymous_variant	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761664G>A	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.438C>T	11.37:g.55761664G>A							p.A146A	NM_003697	NP_003688	O95221	OR5F1_HUMAN			1	438	-	Esophageal squamous(21;0.00448)		146			Helical; Name=4; (Potential).		Q495D1|Q6IFB9	Silent	SNP	ENST00000278409.1	37	c.438C>T	CCDS31515.1																																																																																				0.502	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		7	53	0	0	0	0	7	53				
FAM111B	374393	broad.mit.edu	37	11	58891901	58891901	+	Silent	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr11:58891901C>T	ENST00000343597.3	+	4	522	c.331C>T	c.(331-333)Ctg>Ttg	p.L111L	FAM111B_ENST00000411426.1_Silent_p.L81L|FAM111B_ENST00000529618.1_Silent_p.L81L	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	111							catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						CTACTCAGCCCTGAGTGCTAA	0.343																																						uc001nnl.2		NA																	0				ovary(2)	2						c.(331-333)CTG>TTG		hypothetical protein LOC374393 isoform a							79.0	76.0	77.0					11																	58891901		2201	4295	6496	SO:0001819	synonymous_variant	374393						catalytic activity	g.chr11:58891901C>T	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.331C>T	11.37:g.58891901C>T						FAM111B_uc001nnm.2_Silent_p.L81L|FAM111B_uc010rko.1_Silent_p.L81L	p.L111L	NM_198947	NP_945185	Q6SJ93	F111B_HUMAN			4	574	+			111					B4E2G2|Q6P661	Silent	SNP	ENST00000343597.3	37	c.331C>T	CCDS7972.1																																																																																				0.343	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947		9	48	0	0	0	0	9	48				
OR4D6	219983	broad.mit.edu	37	11	59224763	59224763	+	Silent	SNP	A	A	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr11:59224763A>G	ENST00000300127.2	+	1	353	c.330A>G	c.(328-330)gcA>gcG	p.A110A		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CTGGTGGGGCAGATATTTTTT	0.488																																						uc010rku.1		NA																	0				ovary(1)	1						c.(328-330)GCA>GCG		olfactory receptor, family 4, subfamily D,							172.0	171.0	172.0					11																	59224763		2201	4295	6496	SO:0001819	synonymous_variant	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59224763A>G	AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"""GPCR / Class A : Olfactory receptors"""	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.330A>G	11.37:g.59224763A>G							p.A110A	NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN			1	330	+			110			Helical; Name=3; (Potential).		B2RNP7|Q6IFF5|Q96R74	Silent	SNP	ENST00000300127.2	37	c.330A>G	CCDS31562.1																																																																																				0.488	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708		23	163	0	0	0	0	23	163				
CPSF7	79869	broad.mit.edu	37	11	61196678	61196678	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr11:61196678T>C	ENST00000394888.4	-	2	202	c.30A>G	c.(28-30)atA>atG	p.I10M	SDHAF2_ENST00000542074.1_5'Flank|CPSF7_ENST00000448745.1_Missense_Mutation_p.I10M|SDHAF2_ENST00000534878.1_5'Flank|CPSF7_ENST00000541963.1_Missense_Mutation_p.I10M|SDHAF2_ENST00000537782.1_5'Flank|CPSF7_ENST00000340437.4_Missense_Mutation_p.I53M|CPSF7_ENST00000439958.3_Missense_Mutation_p.I10M|RP11-286N22.8_ENST00000543044.1_5'Flank|SDHAF2_ENST00000301761.2_5'Flank|SDHAF2_ENST00000543265.1_5'Flank	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	10					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						CGTCAGCATATATATCAATCA	0.483																																						uc001nrq.2		NA																	0				central_nervous_system(1)	1						c.(28-30)ATA>ATG		pre-mRNA cleavage factor I, 59 kDa subunit							190.0	182.0	185.0					11																	61196678		2202	4299	6501	SO:0001583	missense	79869				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	g.chr11:61196678T>C		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.30A>G	11.37:g.61196678T>C	ENSP00000378352:p.Ile10Met					SDHAF2_uc001nrt.2_5'Flank|CPSF7_uc001nro.2_Missense_Mutation_p.I10M|CPSF7_uc001nrp.2_Missense_Mutation_p.I53M|CPSF7_uc001nrr.2_Missense_Mutation_p.I10M|CPSF7_uc001nrs.1_Translation_Start_Site|CPSF7_uc009ynp.2_Missense_Mutation_p.I10M	p.I10M	NM_001136040	NP_001129512	Q8N684	CPSF7_HUMAN			2	164	-			10					B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Missense_Mutation	SNP	ENST00000394888.4	37	c.30A>G	CCDS44619.1	.	.	.	.	.	.	.	.	.	.	T	12.90	2.077562	0.36662	.	.	ENSG00000149532	ENST00000340437;ENST00000394888;ENST00000439958;ENST00000448745;ENST00000477890;ENST00000539952;ENST00000544585;ENST00000413232;ENST00000541963;ENST00000450000;ENST00000449811;ENST00000413184	.	.	.	5.12	-0.51	0.11973	.	0.132800	0.47455	D	0.000238	T	0.65749	0.2721	L	0.52011	1.625	0.37793	D	0.927415	D;P;D;D	0.69078	0.997;0.943;0.997;0.966	D;D;D;D	0.78314	0.991;0.924;0.991;0.965	T	0.68146	-0.5486	9	0.66056	D	0.02	.	11.2643	0.49101	0.1065:0.0:0.616:0.2775	.	10;10;53;10	F5H1W4;Q8N684;Q8N684-3;Q8N684-2	.;CPSF7_HUMAN;.;.	M	53;10;10;10;10;10;10;10;10;10;10;10	.	ENSP00000345412:I53M	I	-	3	3	CPSF7	60953254	0.999000	0.42202	0.998000	0.56505	0.756000	0.42949	0.281000	0.18810	0.052000	0.16007	-0.460000	0.05396	ATA		0.483	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		30	162	0	0	0	0	30	162				
SCGB1D1	10648	broad.mit.edu	37	11	61957758	61957758	+	Start_Codon_SNP	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr11:61957758T>C	ENST00000306238.3	+	1	71	c.2T>C	c.(1-3)aTg>aCg	p.M1T		NM_006552.1	NP_006543.1	O95968	SG1D1_HUMAN	secretoglobin, family 1D, member 1	1						extracellular space (GO:0005615)	protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	9						TAAGCCACCATGAGGCTGTCG	0.577																																						uc001nsz.1		NA																	0				skin(1)	1						c.(1-3)ATG>ACG		lipophilin A precursor							146.0	105.0	119.0					11																	61957758		2202	4299	6501	SO:0001582	initiator_codon_variant	10648					extracellular space	binding	g.chr11:61957758T>C	AJ224171	CCDS8015.1	11q13	2011-12-14			ENSG00000168515	ENSG00000168515		"""Secretoglobins"""	18395	protein-coding gene	gene with protein product	"""prostatein-like lipophilin A"", ""lipophilin A (uteroglobin family member)"""	615060				9720917, 10066439, 22155607	Standard	NM_006552		Approved	LPHA, LIPA, MGC71958	uc001nsz.1	O95968	OTTHUMG00000167505	ENST00000306238.3:c.2T>C	11.37:g.61957758T>C	ENSP00000303070:p.Met1Thr						p.M1T	NM_006552	NP_006543	O95968	SG1D1_HUMAN			1	49	+			1						Missense_Mutation	SNP	ENST00000306238.3	37	c.2T>C	CCDS8015.1	.	.	.	.	.	.	.	.	.	.	T	15.13	2.741028	0.49151	.	.	ENSG00000168515	ENST00000306238	T	0.31769	1.48	4.44	3.29	0.37713	.	0.719989	0.11358	U	0.572243	T	0.48429	0.1499	.	.	.	0.80722	D	1	D	0.69078	0.997	P	0.61397	0.888	T	0.40040	-0.9584	9	0.72032	D	0.01	.	7.3509	0.26691	0.1945:0.0:0.0:0.8055	.	1	O95968	SG1D1_HUMAN	T	1	ENSP00000303070:M1T	ENSP00000303070:M1T	M	+	2	0	SCGB1D1	61714334	1.000000	0.71417	0.802000	0.32245	0.583000	0.36354	0.772000	0.26647	0.815000	0.34398	0.482000	0.46254	ATG		0.577	SCGB1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394856.1	NM_006552	Missense_Mutation	3	57	0	0	0	0	3	57				
NAALADL1	10004	broad.mit.edu	37	11	64813736	64813736	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr11:64813736C>T	ENST00000358658.3	-	15	1807	c.1780G>A	c.(1780-1782)Gag>Aag	p.E594K	NAALADL1_ENST00000355721.3_Missense_Mutation_p.E553K|NAALADL1_ENST00000528884.1_5'UTR|NAALADL1_ENST00000340252.4_Missense_Mutation_p.E645K|NAALADL1_ENST00000339885.2_3'UTR|NAALADL1_ENST00000356632.3_Missense_Mutation_p.E559K|NAALADL1_ENST00000526799.1_5'UTR|NAALADL1_ENST00000355369.2_3'UTR	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	594						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CGGAGTGTCTCACTGTAGTCA	0.612																																						uc001ocn.2		NA																	0					0						c.(1780-1782)GAG>AAG		N-acetylated alpha-linked acidic							72.0	66.0	68.0					11																	64813736		2201	4297	6498	SO:0001583	missense	10004				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:64813736C>T	AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"""ileal peptidase I100"""	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.1780G>A	11.37:g.64813736C>T	ENSP00000351484:p.Glu594Lys					NAALADL1_uc010rnw.1_Missense_Mutation_p.E70K|NAALADL1_uc009ypz.2_RNA	p.E594K	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN			15	1796	-			594			Extracellular (Potential).		C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Missense_Mutation	SNP	ENST00000358658.3	37	c.1780G>A	CCDS31604.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696981	0.88830	.	.	ENSG00000168060	ENST00000533753;ENST00000358658;ENST00000453486;ENST00000340252;ENST00000355721;ENST00000356632;ENST00000530139	T;T;T;T;T	0.59364	1.2;0.27;0.27;0.27;0.27	4.98	4.06	0.47325	Transferrin receptor-like, dimerisation domain (2);	0.190303	0.48286	D	0.000192	T	0.42200	0.1192	L	0.35487	1.065	0.80722	D	1	B	0.19073	0.033	B	0.19946	0.027	T	0.19516	-1.0303	10	0.09084	T	0.74	-25.5649	11.3751	0.49724	0.0:0.91:0.0:0.09	.	594	Q9UQQ1	NALDL_HUMAN	K	1;594;594;645;553;559;70	ENSP00000434225:E1K;ENSP00000351484:E594K;ENSP00000344244:E645K;ENSP00000347955:E553K;ENSP00000349045:E559K	ENSP00000344244:E645K	E	-	1	0	NAALADL1	64570312	1.000000	0.71417	0.264000	0.24511	0.860000	0.49131	6.469000	0.73555	1.237000	0.43756	0.561000	0.74099	GAG		0.612	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468		12	50	0	0	0	0	12	50				
ALDH3B2	222	broad.mit.edu	37	11	67431887	67431887	+	Missense_Mutation	SNP	C	C	T	rs147016371	byFrequency	TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr11:67431887C>T	ENST00000349015.3	-	8	1291	c.853G>A	c.(853-855)Gcc>Acc	p.A285T	ALDH3B2_ENST00000531881.1_5'Flank|ALDH3B2_ENST00000530069.1_Missense_Mutation_p.A285T	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	285					alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						TTGGAGAAGGCGTACAGGGCC	0.637																																						uc001omr.2		NA																	0				lung(1)|kidney(1)	2						c.(853-855)GCC>ACC		aldehyde dehydrogenase 3B2	NADH(DB00157)	C	THR/ALA,THR/ALA	0,4400		0,0,2200	102.0	100.0	100.0		853,853	2.8	0.8	11	dbSNP_134	100	4,8584	3.0+/-9.4	0,4,4290	no	missense,missense	ALDH3B2	NM_000695.3,NM_001031615.1	58,58	0,4,6490	TT,TC,CC		0.0466,0.0,0.0308	probably-damaging,probably-damaging	285/386,285/386	67431887	4,12984	2200	4294	6494	SO:0001583	missense	222				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67431887C>T	U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"""Aldehyde dehydrogenases"""	411	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 8"", ""acetaldehyde dehydrogenase 8"""	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.853G>A	11.37:g.67431887C>T	ENSP00000255084:p.Ala285Thr					ALDH3B2_uc001oms.2_Missense_Mutation_p.A285T|ALDH3B2_uc009ysa.1_Missense_Mutation_p.A285T	p.A285T	NM_000695	NP_000686	P48448	AL3B2_HUMAN			8	1292	-			285					Q53Y98|Q8NAL5|Q96IB2	Missense_Mutation	SNP	ENST00000349015.3	37	c.853G>A	CCDS31622.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271403	0.80469	0.0	4.66E-4	ENSG00000132746	ENST00000530069;ENST00000349015	T;T	0.76060	-0.99;-0.99	3.72	2.8	0.32819	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.310898	0.29493	U	0.011991	T	0.75781	0.3896	M	0.66378	2.025	0.44754	D	0.997756	P;P	0.50443	0.84;0.935	P;P	0.48921	0.477;0.595	T	0.77744	-0.2473	10	0.72032	D	0.01	.	11.0931	0.48128	0.0:0.9057:0.0:0.0943	.	170;285	B4DSX1;P48448	.;AL3B2_HUMAN	T	285	ENSP00000431595:A285T;ENSP00000255084:A285T	ENSP00000255084:A285T	A	-	1	0	ALDH3B2	67188463	0.985000	0.35326	0.806000	0.32338	0.931000	0.56810	2.488000	0.45276	0.914000	0.36822	0.561000	0.74099	GCC		0.637	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	NM_000695		15	124	0	0	0	0	15	124				
ETS1	2113	broad.mit.edu	37	11	128359290	128359290	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr11:128359290T>C	ENST00000319397.6	-	3	607	c.298A>G	c.(298-300)Atg>Gtg	p.M100V	ETS1_ENST00000531611.1_Missense_Mutation_p.M100V|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000345075.4_Missense_Mutation_p.M100V|ETS1_ENST00000392668.4_Missense_Mutation_p.M144V|ETS1_ENST00000526145.2_Missense_Mutation_p.M100V	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	100	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GCTCCATTCATACAGAACTTC	0.532																																						uc010sbs.1		NA																	0				lung(4)|central_nervous_system(1)|pleura(1)	6						c.(298-300)ATG>GTG		v-ets erythroblastosis virus E26 oncogene							117.0	119.0	119.0					11																	128359290		2201	4297	6498	SO:0001583	missense	2113				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128359290T>C		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.298A>G	11.37:g.128359290T>C	ENSP00000324578:p.Met100Val					ETS1_uc001qej.2_Missense_Mutation_p.M144V|ETS1_uc009zch.2_Intron|ETS1_uc009zcg.2_Missense_Mutation_p.M100V	p.M100V	NM_005238	NP_005229	P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	3	614	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)	100			PNT.		A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000319397.6	37	c.298A>G	CCDS8475.1	.	.	.	.	.	.	.	.	.	.	T	15.83	2.949670	0.53186	.	.	ENSG00000134954	ENST00000345075;ENST00000392668;ENST00000531611;ENST00000319397;ENST00000526145	T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22	5.57	5.57	0.84162	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.000000	0.85682	D	0.000000	T	0.44912	0.1316	M	0.78637	2.42	0.80722	D	1	P;B;B	0.38677	0.642;0.448;0.048	B;B;B	0.39119	0.291;0.153;0.045	T	0.50423	-0.8830	10	0.56958	D	0.05	.	15.7239	0.77736	0.0:0.0:0.0:1.0	.	100;100;144	P14921;Q96AC5;Q6N087	ETS1_HUMAN;.;.	V	100;144;100;100;100	ENSP00000340485:M100V;ENSP00000376436:M144V;ENSP00000435666:M100V;ENSP00000324578:M100V;ENSP00000433500:M100V	ENSP00000324578:M100V	M	-	1	0	ETS1	127864500	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	6.166000	0.71896	2.116000	0.64780	0.533000	0.62120	ATG		0.532	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2	NM_005238		18	139	0	0	0	0	18	139				
NTM	50863	broad.mit.edu	37	11	132016253	132016253	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr11:132016253G>A	ENST00000374786.1	+	2	724	c.245G>A	c.(244-246)tGg>tAg	p.W82*	NTM_ENST00000539799.1_Nonsense_Mutation_p.W82*|NTM_ENST00000374784.1_Nonsense_Mutation_p.W82*|NTM_ENST00000427481.2_Nonsense_Mutation_p.W73*|NTM_ENST00000374791.3_Nonsense_Mutation_p.W82*|NTM_ENST00000425719.2_Nonsense_Mutation_p.W82*	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	82	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AATGACAAGTGGTGCCTGGAT	0.567																																						uc001qgp.2		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(244-246)TGG>TAG		neurotrimin isoform 1							182.0	133.0	149.0					11																	132016253		2201	4297	6498	SO:0001587	stop_gained	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132016253G>A	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.245G>A	11.37:g.132016253G>A	ENSP00000363918:p.Trp82*					NTM_uc001qgm.2_Nonsense_Mutation_p.W82*|NTM_uc010sch.1_Nonsense_Mutation_p.W73*|NTM_uc010sci.1_Nonsense_Mutation_p.W82*|NTM_uc010scj.1_Nonsense_Mutation_p.W41*|NTM_uc001qgo.2_Nonsense_Mutation_p.W82*|NTM_uc001qgq.2_Nonsense_Mutation_p.W82*	p.W82*	NM_016522	NP_057606	Q9P121	NTRI_HUMAN			2	909	+			82			Ig-like C2-type 1.		A0MTT2|Q6UXJ3|Q86VJ9	Nonsense_Mutation	SNP	ENST00000374786.1	37	c.245G>A	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	G	36	5.670782	0.96754	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-12.3768	19.819	0.96583	0.0:0.0:1.0:0.0	.	.	.	.	X	82;82;73;73;82;82;82	.	ENSP00000363916:W82X	W	+	2	0	NTM	131521463	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.852000	0.99516	2.691000	0.91804	0.655000	0.94253	TGG		0.567	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		14	61	0	0	0	0	14	61				
HDAC7	51564	broad.mit.edu	37	12	48188581	48188581	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr12:48188581C>T	ENST00000427332.2	-	12	1459	c.1303G>A	c.(1303-1305)Gag>Aag	p.E435K	HDAC7_ENST00000354334.3_Missense_Mutation_p.E437K|HDAC7_ENST00000488927.1_5'Flank|HDAC7_ENST00000552960.1_Missense_Mutation_p.E457K|HDAC7_ENST00000080059.7_Missense_Mutation_p.E474K|HDAC7_ENST00000380610.4_Missense_Mutation_p.E491K			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	435	Transcription repression 2. {ECO:0000250}.				cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CCTCTGGCCTCAGGCTGCCCA	0.657																																						uc010slo.1		NA																	0				lung(1)|breast(1)	2						c.(1420-1422)GAG>AAG		histone deacetylase 7 isoform a							38.0	43.0	41.0					12																	48188581		2202	4300	6502	SO:0001583	missense	51564				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr12:48188581C>T	AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"""histone deacetylase 7A"""	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.1303G>A	12.37:g.48188581C>T	ENSP00000404394:p.Glu435Lys					HDAC7_uc009zku.2_5'Flank|HDAC7_uc001rqe.2_5'Flank|HDAC7_uc001rqj.3_Missense_Mutation_p.E437K|HDAC7_uc001rqk.3_Missense_Mutation_p.E457K	p.E474K	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN		GBM - Glioblastoma multiforme(48;0.137)	12	1615	-			435			Transcription repression 2 (By similarity).		B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Missense_Mutation	SNP	ENST00000427332.2	37	c.1420G>A		.	.	.	.	.	.	.	.	.	.	C	14.69	2.611706	0.46631	.	.	ENSG00000061273	ENST00000080059;ENST00000354334;ENST00000552960;ENST00000380610;ENST00000427332	T;T;T;T;T	0.58506	0.37;0.36;0.38;0.33;0.39	4.9	4.9	0.64082	.	1.149250	0.06406	N	0.719794	T	0.50667	0.1629	N	0.22421	0.69	0.40798	D	0.983317	B;B;B	0.26902	0.163;0.051;0.163	B;B;B	0.26310	0.046;0.068;0.068	T	0.13415	-1.0510	10	0.36615	T	0.2	.	17.0186	0.86427	0.0:1.0:0.0:0.0	.	474;457;437	Q8WUI4-5;Q8WUI4-6;Q8WUI4-7	.;.;.	K	474;437;457;491;435	ENSP00000080059:E474K;ENSP00000351326:E437K;ENSP00000448532:E457K;ENSP00000369984:E491K;ENSP00000404394:E435K	ENSP00000080059:E474K	E	-	1	0	HDAC7	46474848	0.368000	0.25031	0.504000	0.27639	0.030000	0.12068	2.903000	0.48711	2.418000	0.82041	0.563000	0.77884	GAG		0.657	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2			11	68	0	0	0	0	11	68				
C12orf54	121273	broad.mit.edu	37	12	48888620	48888620	+	Silent	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr12:48888620G>A	ENST00000548364.1	+	7	339	c.282G>A	c.(280-282)ttG>ttA	p.L94L	RP11-722P11.4_ENST00000551847.1_RNA|C12orf54_ENST00000314014.2_Silent_p.L94L			Q6X4T0	CL054_HUMAN	chromosome 12 open reading frame 54	94										endometrium(1)|large_intestine(4)	5						CCCCAAAGTTGAGAAGATTGC	0.483																																						uc001rrr.2		NA																	0					0						c.(280-282)TTG>TTA		hypothetical protein LOC121273							143.0	139.0	140.0					12																	48888620		2203	4300	6503	SO:0001819	synonymous_variant	121273							g.chr12:48888620G>A	BC031670	CCDS8764.1	12q13.11	2011-01-31			ENSG00000177627	ENSG00000177627			28553	protein-coding gene	gene with protein product						12477932	Standard	NM_152319		Approved	MGC35033	uc001rrr.3	Q6X4T0	OTTHUMG00000170019	ENST00000548364.1:c.282G>A	12.37:g.48888620G>A						C12orf54_uc009zky.1_RNA	p.L94L	NM_152319	NP_689532	Q6X4T0	CL054_HUMAN			7	339	+			94					Q6X4S9|Q8N5S2	Silent	SNP	ENST00000548364.1	37	c.282G>A	CCDS8764.1																																																																																				0.483	C12orf54-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406875.1	NM_152319		11	120	0	0	0	0	11	120				
ADCY6	112	broad.mit.edu	37	12	49165584	49165584	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr12:49165584T>C	ENST00000307885.4	-	18	3654	c.2960A>G	c.(2959-2961)aAc>aGc	p.N987S	ADCY6_ENST00000552090.1_5'Flank|MIR4701_ENST00000583094.1_RNA|ADCY6_ENST00000357869.3_Missense_Mutation_p.N934S|ADCY6_ENST00000550422.1_Missense_Mutation_p.N934S	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	987					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CTCAGAGAAGTTGGCAATGGA	0.537																																						uc001rsh.3		NA																	0					0						c.(2959-2961)AAC>AGC		adenylate cyclase 6 isoform a							95.0	79.0	85.0					12																	49165584		2203	4300	6503	SO:0001583	missense	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49165584T>C		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.2960A>G	12.37:g.49165584T>C	ENSP00000311405:p.Asn987Ser					ADCY6_uc001rsj.3_Missense_Mutation_p.N987S|ADCY6_uc001rsi.3_Missense_Mutation_p.N934S|ADCY6_uc010slw.1_Missense_Mutation_p.N218S	p.N987S	NM_015270	NP_056085	O43306	ADCY6_HUMAN			18	3620	-			987			Cytoplasmic (Potential).		Q9NR75|Q9UDB0	Missense_Mutation	SNP	ENST00000307885.4	37	c.2960A>G	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.943918	0.92593	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	T;T;T	0.29397	1.57;1.57;1.57	5.85	5.85	0.93711	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.58949	0.2158	M	0.80982	2.52	0.80722	D	1	D;P;D	0.89917	1.0;0.941;0.971	D;P;P	0.85130	0.997;0.753;0.897	T	0.63554	-0.6611	10	0.72032	D	0.01	.	15.5289	0.75936	0.0:0.0:0.0:1.0	.	218;934;987	B4DG74;O43306-2;O43306	.;.;ADCY6_HUMAN	S	934;934;987	ENSP00000350536:N934S;ENSP00000446730:N934S;ENSP00000311405:N987S	ENSP00000311405:N987S	N	-	2	0	ADCY6	47451851	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.031000	0.88826	2.371000	0.80710	0.533000	0.62120	AAC		0.537	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		9	56	0	0	0	0	9	56				
ACVRL1	94	broad.mit.edu	37	12	52309043	52309043	+	Silent	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr12:52309043G>A	ENST00000388922.4	+	7	1090	c.807G>A	c.(805-807)tcG>tcA	p.S269S	ACVRL1_ENST00000550683.1_Silent_p.S283S|ACVRL1_ENST00000419526.2_Silent_p.S95S	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	269	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CCCGCAACTCGAGCACGCAGC	0.612																																						uc001rzj.2		NA																	0				lung(2)	2						c.(805-807)TCG>TCA		activin A receptor type II-like 1 precursor	Adenosine triphosphate(DB00171)						68.0	59.0	62.0					12																	52309043		2203	4300	6503	SO:0001819	synonymous_variant	94	Hereditary_Hemorrhagic_Telangiectasia			blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr12:52309043G>A	L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.807G>A	12.37:g.52309043G>A						ACVRL1_uc001rzk.2_Silent_p.S269S|ACVRL1_uc010snm.1_Silent_p.S95S	p.S269S	NM_000020	NP_000011	P37023	ACVL1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0991)	7	1090	+			269			Cytoplasmic (Potential).|Protein kinase.		A6NGA8	Silent	SNP	ENST00000388922.4	37	c.807G>A	CCDS31804.1																																																																																				0.612	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2			9	68	0	0	0	0	9	68				
CCT2	10576	broad.mit.edu	37	12	69987352	69987352	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr12:69987352A>T	ENST00000299300.6	+	10	1129	c.941A>T	c.(940-942)cAt>cTt	p.H314L	CCT2_ENST00000543146.2_Missense_Mutation_p.H267L|CCT2_ENST00000544368.2_Missense_Mutation_p.H314L	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	314					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GCTATTGAGCATGCAGATTTT	0.358																																						uc001svb.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(940-942)CAT>CTT		chaperonin containing TCP1, subunit 2							125.0	116.0	119.0					12																	69987352		2203	4300	6503	SO:0001583	missense	10576				'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	g.chr12:69987352A>T	AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"""Heat Shock Proteins / Chaperonins"""	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.941A>T	12.37:g.69987352A>T	ENSP00000299300:p.His314Leu					CCT2_uc009zrm.1_RNA|CCT2_uc009zrn.1_Missense_Mutation_p.H314L|CCT2_uc010stl.1_Missense_Mutation_p.H267L	p.H314L	NM_006431	NP_006422	P78371	TCPB_HUMAN	Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		10	1035	+	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		314					A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Missense_Mutation	SNP	ENST00000299300.6	37	c.941A>T	CCDS8991.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.490216	0.84962	.	.	ENSG00000166226	ENST00000299300;ENST00000544368;ENST00000543146	T;T;T	0.78246	-1.16;-1.16;-1.16	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.90899	0.7140	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	0.986;1.0	P;D	0.97110	0.627;1.0	D	0.92946	0.6376	9	.	.	.	-5.9685	16.3483	0.83171	1.0:0.0:0.0:0.0	.	314;314	F5GWF6;P78371	.;TCPB_HUMAN	L	314;314;267	ENSP00000299300:H314L;ENSP00000441847:H314L;ENSP00000445471:H267L	.	H	+	2	0	CCT2	68273619	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.897000	0.92532	2.254000	0.74563	0.533000	0.62120	CAT		0.358	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	NM_006431		9	45	0	0	0	0	9	45				
FGD6	55785	broad.mit.edu	37	12	95603436	95603436	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr12:95603436G>A	ENST00000343958.4	-	2	1847	c.1624C>T	c.(1624-1626)Cag>Tag	p.Q542*	FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000546711.1_Nonsense_Mutation_p.Q542*|FGD6_ENST00000549499.1_Nonsense_Mutation_p.Q542*	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	542					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CACAAATGCTGAAGGTGATTT	0.423																																						uc001tdp.3		NA																	0				ovary(2)|breast(1)	3						c.(1624-1626)CAG>TAG		FYVE, RhoGEF and PH domain containing 6							75.0	80.0	78.0					12																	95603436		2203	4300	6503	SO:0001587	stop_gained	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95603436G>A	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.1624C>T	12.37:g.95603436G>A	ENSP00000344446:p.Gln542*					FGD6_uc009zsx.2_Intron	p.Q542*	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN			2	1848	-			542					Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Nonsense_Mutation	SNP	ENST00000343958.4	37	c.1624C>T	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	G	37	6.038499	0.97226	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	.	.	.	5.89	3.9	0.45041	.	1.040260	0.07652	N	0.932078	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	0.0702	4.8863	0.13704	0.0759:0.2032:0.5303:0.1907	.	.	.	.	X	542	.	ENSP00000344446:Q542X	Q	-	1	0	FGD6	94127567	0.005000	0.15991	0.979000	0.43373	0.788000	0.44548	1.022000	0.30052	1.488000	0.48433	0.561000	0.74099	CAG		0.423	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		10	89	0	0	0	0	10	89				
CRY1	1407	broad.mit.edu	37	12	107415889	107415889	+	Silent	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr12:107415889T>C	ENST00000008527.5	-	2	1107	c.240A>G	c.(238-240)ccA>ccG	p.P80P		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	80	Photolyase/cryptochrome alpha/beta.				blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						ACACATCTGCTGGTTGTCCAC	0.323																																						uc001tmi.3		NA																	0				ovary(3)	3						c.(238-240)CCA>CCG		cryptochrome 1 (photolyase-like)							99.0	109.0	105.0					12																	107415889		2203	4300	6503	SO:0001819	synonymous_variant	1407				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding	g.chr12:107415889T>C	BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"""cryptochrome 1 (photolyase-like)"""	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.240A>G	12.37:g.107415889T>C							p.P80P	NM_004075	NP_004066	Q16526	CRY1_HUMAN			2	1099	-			80			DNA photolyase.			Silent	SNP	ENST00000008527.5	37	c.240A>G	CCDS9112.1																																																																																				0.323	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	NM_004075		22	127	0	0	0	0	22	127				
RSRC2	65117	broad.mit.edu	37	12	122991393	122991393	+	Silent	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr12:122991393C>T	ENST00000331738.7	-	9	1258	c.1113G>A	c.(1111-1113)ttG>ttA	p.L371L	RSRC2_ENST00000354654.2_Silent_p.L323L|RSRC2_ENST00000392442.2_5'UTR	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	371							poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		TAATACCCATCAATTTCCTAA	0.368																																						uc001ucr.2		NA																	0				ovary(1)	1						c.(1111-1113)TTG>TTA		arginine/serine-rich coiled-coil 2 isoform a							196.0	189.0	191.0					12																	122991393		2203	4300	6503	SO:0001819	synonymous_variant	65117							g.chr12:122991393C>T	AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.1113G>A	12.37:g.122991393C>T						RSRC2_uc001uco.2_Silent_p.L140L|RSRC2_uc001ucp.2_Silent_p.L312L|RSRC2_uc001ucq.2_Silent_p.L139L|RSRC2_uc001ucs.2_Silent_p.L140L|RSRC2_uc001uct.2_Silent_p.L323L|RSRC2_uc001ucu.2_Silent_p.L372L	p.L371L	NM_023012	NP_075388	Q7L4I2	RSRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)	9	1259	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		371					Q6N040|Q6NW16|Q9H864	Silent	SNP	ENST00000331738.7	37	c.1113G>A	CCDS31920.1																																																																																				0.368	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395096.3	NM_023012		12	116	0	0	0	0	12	116				
NCOR2	9612	broad.mit.edu	37	12	124832798	124832798	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr12:124832798C>T	ENST00000405201.1	-	29	3907	c.3907G>A	c.(3907-3909)Gag>Aag	p.E1303K	NCOR2_ENST00000404621.1_Missense_Mutation_p.E1293K|NCOR2_ENST00000404121.2_Missense_Mutation_p.E864K|NCOR2_ENST00000356219.3_Missense_Mutation_p.E1310K|NCOR2_ENST00000397355.1_Missense_Mutation_p.E1294K|NCOR2_ENST00000429285.2_Missense_Mutation_p.E1293K			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1311					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCGGCCGTCTCATGGGGGGGT	0.622											OREG0022238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010tba.1		NA																	0				skin(3)|ovary(1)	4						c.(3931-3933)GAG>AAG		nuclear receptor co-repressor 2 isoform 2							40.0	47.0	45.0					12																	124832798		2037	4162	6199	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124832798C>T	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.3907G>A	12.37:g.124832798C>T	ENSP00000384018:p.Glu1303Lys		OREG0022238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1537	NCOR2_uc010tay.1_Missense_Mutation_p.E1310K|NCOR2_uc010taz.1_Missense_Mutation_p.E1294K|NCOR2_uc010tbb.1_Missense_Mutation_p.E1303K|NCOR2_uc010tbc.1_Missense_Mutation_p.E1293K|NCOR2_uc001ugj.1_Missense_Mutation_p.E1311K	p.E1311K	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	29	4048	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1311					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.3931G>A	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	C	15.32	2.798038	0.50208	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.35605	2.07;2.34;2.07;2.34;2.08;2.34;1.3	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.58206	0.2106	L	0.58101	1.795	0.58432	D	0.999995	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.78314	0.989;0.98;0.991	T	0.61676	-0.7014	10	0.72032	D	0.01	-29.149	18.3091	0.90193	0.0:1.0:0.0:0.0	.	1293;1294;1303	C9J0Q5;C9J239;C9JFD3	.;.;.	K	1303;1293;1310;1294;1302;864;1293;1311	ENSP00000384018:E1303K;ENSP00000384202:E1293K;ENSP00000348551:E1310K;ENSP00000380513:E1294K;ENSP00000385618:E864K;ENSP00000400281:E1293K;ENSP00000402808:E1311K	ENSP00000348551:E1310K	E	-	1	0	NCOR2	123398751	1.000000	0.71417	0.391000	0.26233	0.008000	0.06430	5.505000	0.66981	2.318000	0.78349	0.561000	0.74099	GAG		0.622	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		10	61	0	0	0	0	10	61				
N4BP2L1	90634	broad.mit.edu	37	13	32972546	32972546	+	IGR	SNP	A	A	G	rs398122625		TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr13:32972546A>G	ENST00000380130.2	-	0	3046				BRCA2_ENST00000380152.3_Missense_Mutation_p.Q3299R|BRCA2_ENST00000544455.1_Missense_Mutation_p.Q3299R	NM_052818.2	NP_438169.2	Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1											large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		AAGGCATTTCAGCCACCAAGG	0.398																																						uc001uub.1		NA								D|Mis|N|F|S						breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		0				ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(9895-9897)CAG>CGG	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							119.0	120.0	120.0					13																	32972546		2203	4300	6503	SO:0001628	intergenic_variant	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome			cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32972546A>G	U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"""hypothetical gene CG018"""					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697		13.37:g.32972546A>G		TCGA Ovarian(8;0.087)					p.Q3299R	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	27	10123	+		Lung SC(185;0.0262)	3299					A4QN21|Q5TBK0	Missense_Mutation	SNP	ENST00000380130.2	37	c.9896A>G	CCDS9345.2	.	.	.	.	.	.	.	.	.	.	A	18.92	3.725216	0.68959	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00808	5.67;5.67	5.58	4.41	0.53225	.	0.326644	0.33572	N	0.004775	T	0.01454	0.0047	M	0.62016	1.91	0.32306	N	0.564416	P	0.47106	0.89	B	0.41332	0.354	T	0.45542	-0.9254	10	0.39692	T	0.17	.	8.4945	0.33119	0.8514:0.0:0.1486:0.0	.	3299	P51587	BRCA2_HUMAN	R	3299	ENSP00000369497:Q3299R;ENSP00000439902:Q3299R	ENSP00000369497:Q3299R	Q	+	2	0	BRCA2	31870546	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.989000	0.49393	0.954000	0.37851	0.383000	0.25322	CAG		0.398	N4BP2L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052818		3	93	0	0	0	0	3	93				
NEK3	4752	broad.mit.edu	37	13	52709904	52709904	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr13:52709904G>C	ENST00000400357.2	-	12	2512	c.1219C>G	c.(1219-1221)Ctc>Gtc	p.L407V	NEK3_ENST00000452082.2_Missense_Mutation_p.L428V|NEK3_ENST00000378101.2_Missense_Mutation_p.L424V|NEK3_ENST00000339406.3_Missense_Mutation_p.L424V			P51956	NEK3_HUMAN	NIMA-related kinase 3	424					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		GCCAAGCTGAGATCAGCATTC	0.378																																						uc001vgi.2		NA																	0				ovary(1)|stomach(1)	2						c.(1270-1272)CTC>GTC		NIMA-related kinase 3 isoform a							106.0	97.0	100.0					13																	52709904		1844	4092	5936	SO:0001583	missense	4752				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:52709904G>C	AK290259, BC019916	CCDS73576.1	13q14.2-q21.1	2014-07-17	2012-11-15		ENSG00000136098	ENSG00000136098	2.7.11.1		7746	protein-coding gene	gene with protein product	"""serine/threonine-protein kinase NEK3"", ""phosphorylase B kinase kinase"", ""glycogen synthase A kinase"", ""hydroxyalkyl-protein kinase"""	604044	"""NIMA (never in mitosis gene a)-related kinase 3"""			8274451, 7522034	Standard	NM_002498		Approved	HSPK36, MGC29949	uc010tgy.2	P51956	OTTHUMG00000016958	ENST00000400357.2:c.1219C>G	13.37:g.52709904G>C	ENSP00000383210:p.Leu407Val					NEK3_uc001vgg.2_Missense_Mutation_p.L401V|NEK3_uc001vgh.2_Missense_Mutation_p.L428V|NEK3_uc010tgx.1_RNA|NEK3_uc010tgy.1_Missense_Mutation_p.L407V	p.L424V	NM_152720	NP_689933	P51956	NEK3_HUMAN		GBM - Glioblastoma multiforme(99;2.81e-08)	16	1505	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)	424					A8K2J4|Q5TAP2|Q8J023|Q8WUN5	Missense_Mutation	SNP	ENST00000400357.2	37	c.1270C>G	CCDS53871.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.997616	0.35226	.	.	ENSG00000136098	ENST00000339406;ENST00000378101;ENST00000400357;ENST00000452082;ENST00000547422	T;T;T;T;T	0.73258	-0.55;-0.55;-0.73;-0.61;-0.57	5.21	5.21	0.72293	.	0.132495	0.48767	D	0.000179	T	0.54663	0.1872	L	0.60455	1.87	0.36080	D	0.84272	P;B;B	0.39535	0.677;0.241;0.354	B;B;B	0.31946	0.101;0.065;0.138	T	0.57906	-0.7730	10	0.09338	T	0.73	.	4.8829	0.13688	0.0814:0.1583:0.6161:0.1442	.	424;428;401	P51956;Q6ZN64;F8VS47	NEK3_HUMAN;.;.	V	424;424;407;428;401	ENSP00000339429:L424V;ENSP00000367341:L424V;ENSP00000383210:L407V;ENSP00000404197:L428V;ENSP00000448716:L401V	ENSP00000339429:L424V	L	-	1	0	NEK3	51607905	0.999000	0.42202	1.000000	0.80357	0.946000	0.59487	1.509000	0.35780	2.570000	0.86706	0.655000	0.94253	CTC		0.378	NEK3-002	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045047.3			7	39	0	0	0	0	7	39				
ZIC5	85416	broad.mit.edu	37	13	100617654	100617654	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr13:100617654C>T	ENST00000267294.4	-	2	2202	c.1969G>A	c.(1969-1971)Gaa>Aaa	p.E657K		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	657					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CGCACAACTTCAGGGTTCCCG	0.478																																						uc001vom.1		NA																	0					0						c.(1969-1971)GAA>AAA		zinc finger protein of the cerebellum 5							76.0	75.0	75.0					13																	100617654		2203	4300	6503	SO:0001583	missense	85416				cell differentiation	nucleus	DNA binding|zinc ion binding	g.chr13:100617654C>T	AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"""Zinc fingers, C2H2-type"""	20322	protein-coding gene	gene with protein product			"""Zic family member 5 (odd-paired homolog, Drosophila)"""				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1969G>A	13.37:g.100617654C>T	ENSP00000267294:p.Glu657Lys						p.E657K	NM_033132	NP_149123	Q96T25	ZIC5_HUMAN			2	2218	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		657					Q5VYB0	Missense_Mutation	SNP	ENST00000267294.4	37	c.1969G>A	CCDS9494.2	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287437	0.59976	.	.	ENSG00000139800	ENST00000267294	T	0.13089	2.62	6.06	5.23	0.72850	.	.	.	.	.	T	0.11623	0.0283	N	0.22421	0.69	0.42134	D	0.991483	B	0.15473	0.013	B	0.10450	0.005	T	0.05257	-1.0896	9	0.48119	T	0.1	.	15.3353	0.74247	0.0:0.9327:0.0:0.0673	.	657	Q96T25	ZIC5_HUMAN	K	657	ENSP00000267294:E657K	ENSP00000267294:E657K	E	-	1	0	ZIC5	99415655	1.000000	0.71417	0.998000	0.56505	0.777000	0.43975	4.967000	0.63722	1.579000	0.49836	-0.126000	0.14955	GAA		0.478	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	NM_033132		13	69	0	0	0	0	13	69				
OR4K15	81127	broad.mit.edu	37	14	20443780	20443780	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr14:20443780G>A	ENST00000305051.5	+	1	178	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCGGGTGACAGAATTTGTGTT	0.398																																						uc010tkx.1		NA																	0				ovary(1)	1						c.(103-105)GAA>AAA		olfactory receptor, family 4, subfamily K,							117.0	123.0	121.0					14																	20443780		2203	4299	6502	SO:0001583	missense	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20443780G>A		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.103G>A	14.37:g.20443780G>A	ENSP00000304077:p.Glu35Lys						p.E35K	NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	103	+	all_cancers(95;0.00108)		35			Extracellular (Potential).		B9EIL3|Q6IEZ4	Missense_Mutation	SNP	ENST00000305051.5	37	c.103G>A	CCDS32026.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.757179	0.49468	.	.	ENSG00000169488	ENST00000305051	T	0.01119	5.31	3.41	3.41	0.39046	.	0.154372	0.29846	N	0.011049	T	0.02688	0.0081	M	0.82517	2.595	0.09310	N	1	B	0.24368	0.102	B	0.24006	0.05	T	0.14755	-1.0461	10	0.72032	D	0.01	.	12.3329	0.55049	0.0:0.0:1.0:0.0	.	35	Q8NH41	OR4KF_HUMAN	K	35	ENSP00000304077:E35K	ENSP00000304077:E35K	E	+	1	0	OR4K15	19513620	0.993000	0.37304	0.348000	0.25681	0.985000	0.73830	4.190000	0.58365	1.711000	0.51337	0.467000	0.42956	GAA		0.398	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			12	101	0	0	0	0	12	101				
SYNE2	23224	broad.mit.edu	37	14	64564717	64564717	+	Silent	SNP	A	A	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr14:64564717A>G	ENST00000344113.4	+	62	12371	c.12159A>G	c.(12157-12159)aaA>aaG	p.K4053K	ESR2_ENST00000542956.1_Intron|MIR548H1_ENST00000408610.1_RNA|SYNE2_ENST00000358025.3_Silent_p.K4053K|SYNE2_ENST00000555002.1_Silent_p.K687K|SYNE2_ENST00000357395.3_Silent_p.K438K|SYNE2_ENST00000394768.2_Silent_p.K438K|SYNE2_ENST00000554584.1_Silent_p.K4086K	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4053					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACCAGAGAAAAGAAGACCTGT	0.448																																						uc001xgm.2		NA																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(12157-12159)AAA>AAG		spectrin repeat containing, nuclear envelope 2							116.0	121.0	119.0					14																	64564717		2203	4300	6503	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64564717A>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.12159A>G	14.37:g.64564717A>G						SYNE2_uc001xgl.2_Silent_p.K4053K|SYNE2_uc010apy.2_Silent_p.K438K|SYNE2_uc010apx.1_Silent_p.K445K|MIR548H-1_hsa-mir-548h-1|MI0006411_5'Flank|SYNE2_uc010apz.1_5'Flank	p.K4053K	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	62	12389	+			4053			Potential.|Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.12159A>G	CCDS41963.1																																																																																				0.448	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		11	81	0	0	0	0	11	81				
CEP152	22995	broad.mit.edu	37	15	49054667	49054667	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr15:49054667T>C	ENST00000380950.2	-	18	2670	c.2483A>G	c.(2482-2484)aAg>aGg	p.K828R	CEP152_ENST00000399334.3_Missense_Mutation_p.K828R|CEP152_ENST00000325747.5_Missense_Mutation_p.K735R	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	828					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GGCTATGTCCTTCTCTTGTTC	0.373																																						uc001zwy.2		NA																	0				lung(2)	2						c.(2482-2484)AAG>AGG		centrosomal protein 152kDa							173.0	158.0	163.0					15																	49054667		1857	4088	5945	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49054667T>C	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.2483A>G	15.37:g.49054667T>C	ENSP00000370337:p.Lys828Arg					CEP152_uc001zwz.2_Missense_Mutation_p.K828R|CEP152_uc001zxa.1_Missense_Mutation_p.K735R	p.K828R	NM_014985	NP_055800	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	18	2517	-		all_lung(180;0.0428)	828					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.2483A>G	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	T	17.02	3.282539	0.59867	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.58506	0.33;0.39;0.38	5.07	5.07	0.68467	.	0.051317	0.85682	D	0.000000	T	0.71660	0.3366	M	0.72118	2.19	0.35769	D	0.820765	D;D;D	0.89917	0.998;1.0;0.988	D;D;P	0.87578	0.991;0.998;0.829	T	0.74447	-0.3662	10	0.21540	T	0.41	-18.0457	12.6021	0.56503	0.0:0.0:0.0:1.0	.	735;828;828	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	R	828;735;828	ENSP00000370337:K828R;ENSP00000321000:K735R;ENSP00000382271:K828R	ENSP00000321000:K735R	K	-	2	0	CEP152	46841959	1.000000	0.71417	0.974000	0.42286	0.528000	0.34623	3.613000	0.54152	2.262000	0.75019	0.528000	0.53228	AAG		0.373	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		40	70	0	0	0	0	40	70				
PIGB	9488	broad.mit.edu	37	15	55622047	55622047	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr15:55622047G>A	ENST00000164305.5	+	5	939	c.648G>A	c.(646-648)atG>atA	p.M216I	PIGB_ENST00000539642.1_Missense_Mutation_p.M21I	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	216					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		CAAAGTCTATGAACAGGTAAG	0.308																																						uc002act.2		NA																	0					0						c.(646-648)ATG>ATA		phosphatidylinositol glycan, class B							81.0	77.0	78.0					15																	55622047		1791	4059	5850	SO:0001583	missense	9488				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity	g.chr15:55622047G>A	D42138	CCDS61641.1	15q21.3	2013-02-26	2006-06-28		ENSG00000069943	ENSG00000069943		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8959	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 3"", ""dol-P-Man dependent GPI mannosyltransferase"""	604122	"""phosphatidylinositol glycan, class B"""			8861954	Standard	NM_004855		Approved		uc002act.3	Q92521	OTTHUMG00000172654	ENST00000164305.5:c.648G>A	15.37:g.55622047G>A	ENSP00000164305:p.Met216Ile					PIGB_uc010ugg.1_Missense_Mutation_p.M21I	p.M216I	NM_004855	NP_004846	Q92521	PIGB_HUMAN		all cancers(107;0.0255)	5	964	+			216					Q53FF9|Q8WVN7	Missense_Mutation	SNP	ENST00000164305.5	37	c.648G>A		.	.	.	.	.	.	.	.	.	.	G	8.792	0.930834	0.18131	.	.	ENSG00000069943	ENST00000164305;ENST00000539642	T;T	0.61859	0.07;0.07	5.96	3.03	0.35002	.	0.631618	0.18600	N	0.136466	T	0.28566	0.0707	N	0.02916	-0.46	0.23421	N	0.997719	B	0.02656	0.0	B	0.13407	0.009	T	0.18116	-1.0347	10	0.21540	T	0.41	-0.0048	7.6028	0.28085	0.1236:0.141:0.7354:0.0	.	216	Q92521	PIGB_HUMAN	I	216;21	ENSP00000164305:M216I;ENSP00000438963:M21I	ENSP00000164305:M216I	M	+	3	0	PIGB	53409339	0.454000	0.25728	0.589000	0.28718	0.992000	0.81027	0.632000	0.24583	0.395000	0.25257	0.655000	0.94253	ATG		0.308	PIGB-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419687.1	NM_004855		23	53	0	0	0	0	23	53				
VPS13C	54832	broad.mit.edu	37	15	62256970	62256970	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr15:62256970G>C	ENST00000261517.5	-	31	3215	c.3142C>G	c.(3142-3144)Caa>Gaa	p.Q1048E	VPS13C_ENST00000395896.4_Missense_Mutation_p.Q1048E|VPS13C_ENST00000395898.3_Missense_Mutation_p.Q1005E|VPS13C_ENST00000249837.3_Missense_Mutation_p.Q1005E	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTTATGCTTTGATCATCAGAT	0.328																																						uc002agz.2		NA																	0				ovary(2)	2						c.(3142-3144)CAA>GAA		vacuolar protein sorting 13C protein isoform 2A							85.0	89.0	88.0					15																	62256970		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62256970G>C	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.3142C>G	15.37:g.62256970G>C	ENSP00000261517:p.Gln1048Glu					VPS13C_uc002aha.2_Missense_Mutation_p.Q1005E|VPS13C_uc002ahb.1_Missense_Mutation_p.Q1048E|VPS13C_uc002ahc.1_Missense_Mutation_p.Q1005E	p.Q1048E	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			31	3216	-			1048						Missense_Mutation	SNP	ENST00000261517.5	37	c.3142C>G	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	1.248	-0.619466	0.03663	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.39997	1.05;1.05;1.05	5.86	4.89	0.63831	.	0.194521	0.34411	N	0.003999	T	0.11495	0.0280	N	0.00210	-1.845	0.25959	N	0.98265	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.15263	-1.0443	10	0.18710	T	0.47	.	12.507	0.55987	0.0:0.244:0.756:0.0	.	1005;1048;1005;1048	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	E	1005;1048;1048;1048	ENSP00000249837:Q1005E;ENSP00000261517:Q1048E;ENSP00000379233:Q1048E	ENSP00000249837:Q1005E	Q	-	1	0	VPS13C	60044262	0.939000	0.31865	0.563000	0.28383	0.012000	0.07955	2.258000	0.43249	2.771000	0.95319	0.650000	0.86243	CAA		0.328	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		22	57	0	0	0	0	22	57				
HCN4	10021	broad.mit.edu	37	15	73614875	73614875	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr15:73614875C>T	ENST00000261917.3	-	8	4552	c.3559G>A	c.(3559-3561)Gaa>Aaa	p.E1187K		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	1187					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GCCCCAGGTTCCCTCTGGGGT	0.582																																						uc002avp.2		NA																	0				ovary(5)|liver(1)	6						c.(3559-3561)GAA>AAA		hyperpolarization activated cyclic							16.0	17.0	17.0					15																	73614875		2191	4287	6478	SO:0001583	missense	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73614875C>T	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.3559G>A	15.37:g.73614875C>T	ENSP00000261917:p.Glu1187Lys						p.E1187K	NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	8	4553	-			1187			Cytoplasmic (Potential).		Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	c.3559G>A	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075710	0.36662	.	.	ENSG00000138622	ENST00000261917	D	0.97455	-4.39	3.52	3.52	0.40303	.	.	.	.	.	D	0.93661	0.7975	L	0.29908	0.895	0.09310	N	1	B	0.22604	0.072	B	0.18263	0.021	D	0.87848	0.2656	9	0.44086	T	0.13	.	13.1926	0.59719	0.0:1.0:0.0:0.0	.	1187	Q9Y3Q4	HCN4_HUMAN	K	1187	ENSP00000261917:E1187K	ENSP00000261917:E1187K	E	-	1	0	HCN4	71401928	0.340000	0.24792	1.000000	0.80357	0.943000	0.58893	2.476000	0.45171	1.660000	0.50760	0.305000	0.20034	GAA		0.582	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		5	15	0	0	0	0	5	15				
TSC2	7249	broad.mit.edu	37	16	2098710	2098710	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr16:2098710G>C	ENST00000219476.3	+	2	724	c.94G>C	c.(94-96)Gag>Cag	p.E32Q	TSC2_ENST00000382538.6_Intron|TSC2_ENST00000439673.2_Missense_Mutation_p.E32Q|TSC2_ENST00000568454.1_Missense_Mutation_p.E43Q|TSC2_ENST00000353929.4_Missense_Mutation_p.E32Q|NTHL1_ENST00000219066.1_5'Flank|TSC2_ENST00000401874.2_Missense_Mutation_p.E32Q|TSC2_ENST00000350773.4_Missense_Mutation_p.E32Q	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	32	Required for interaction with TSC1.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CAGGTCTGCAGAGGGTAAACA	0.502			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													uc002con.2		NA	yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	D|Mis|N|F|S	tuberous sclerosis 2 gene			"""E, O"""		hamartoma|renal cell			0				central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10						c.(94-96)GAG>CAG		tuberous sclerosis 2 isoform 1							164.0	140.0	148.0					16																	2098710		2198	4299	6497	SO:0001583	missense	7249	Tuberous_Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2098710G>C	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.94G>C	16.37:g.2098710G>C	ENSP00000219476:p.Glu32Gln					NTHL1_uc002col.1_5'Flank|NTHL1_uc002com.1_5'Flank|TSC2_uc010uvu.1_Missense_Mutation_p.E32Q|TSC2_uc010bsd.2_Missense_Mutation_p.E32Q|TSC2_uc002coo.2_Missense_Mutation_p.E32Q|TSC2_uc010uvv.1_Missense_Mutation_p.E32Q|TSC2_uc010uvw.1_Intron|TSC2_uc002cop.2_5'UTR	p.E32Q	NM_000548	NP_000539	P49815	TSC2_HUMAN			2	200	+		Hepatocellular(780;0.0202)	32			Required for interaction with TSC1.		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.94G>C	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117083	0.56505	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000350773;ENST00000445113	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	5.16	5.16	0.70880	Armadillo-type fold (1);	0.117556	0.56097	D	0.000026	T	0.74543	0.3730	L	0.47716	1.5	0.43039	D	0.994622	D;D;D;D;D	0.76494	0.997;0.999;0.99;0.997;0.993	D;D;P;D;D	0.79784	0.977;0.993;0.885;0.962;0.968	T	0.74951	-0.3489	10	0.46703	T	0.11	-19.7537	18.6588	0.91465	0.0:0.0:1.0:0.0	.	32;32;32;32;32	P49815-6;B7Z2B8;P49815-4;P49815-5;P49815	.;.;.;.;TSC2_HUMAN	Q	32;32;32;32;32;43	ENSP00000219476:E32Q;ENSP00000384468:E32Q;ENSP00000248099:E32Q;ENSP00000399232:E32Q;ENSP00000344383:E32Q	ENSP00000219476:E32Q	E	+	1	0	TSC2	2038711	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.569000	0.90744	2.403000	0.81681	0.563000	0.77884	GAG		0.502	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		9	89	0	0	0	0	9	89				
ZSCAN32	54925	broad.mit.edu	37	16	3434561	3434561	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr16:3434561C>T	ENST00000396852.4	-	6	1439	c.1132G>A	c.(1132-1134)Gat>Aat	p.D378N	ZSCAN32_ENST00000304926.3_Missense_Mutation_p.D166N|ZSCAN32_ENST00000439568.2_Missense_Mutation_p.D89N|ZSCAN32_ENST00000574940.1_Missense_Mutation_p.D378N|ZSCAN32_ENST00000422427.2_Missense_Mutation_p.D166N|NAA60_ENST00000576906.1_3'UTR|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.D378N|ZSCAN32_ENST00000573830.1_Missense_Mutation_p.D89N	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	378					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)										ACAGTGCCATCTTCTACCTCC	0.527																																						uc002cuz.2		NA																	0				ovary(2)	2						c.(496-498)GAT>AAT		zinc finger protein 434							132.0	126.0	128.0					16																	3434561		2197	4300	6497	SO:0001583	missense	54925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:3434561C>T	AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"""-"", ""Zinc fingers, C2H2-type"""	20812	protein-coding gene	gene with protein product			"""zinc finger protein 434"""	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.1132G>A	16.37:g.3434561C>T	ENSP00000380061:p.Asp378Asn					ZNF434_uc002cux.3_Missense_Mutation_p.D377N|ZNF434_uc010uwx.1_Missense_Mutation_p.D89N|ZNF434_uc002cuy.3_Missense_Mutation_p.D89N|ZNF434_uc010uwy.1_Missense_Mutation_p.D89N|ZNF434_uc010uwz.1_Missense_Mutation_p.D377N|ZNF434_uc010uxa.1_Missense_Mutation_p.D166N	p.D166N	NM_017810	NP_060280	Q9NX65	ZN434_HUMAN			5	1298	-			166					B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Missense_Mutation	SNP	ENST00000396852.4	37	c.496G>A		.	.	.	.	.	.	.	.	.	.	C	18.10	3.548305	0.65311	.	.	ENSG00000140987	ENST00000304926;ENST00000396852;ENST00000396846;ENST00000439568;ENST00000422427	T;T;T;T;T	0.15603	3.11;3.17;3.17;3.15;2.41	3.38	3.38	0.38709	.	1.707150	0.04467	U	0.375336	T	0.09512	0.0234	N	0.08118	0	0.09310	N	1	P;P;P	0.42827	0.791;0.596;0.596	B;B;B	0.34931	0.192;0.099;0.099	T	0.20571	-1.0271	10	0.27082	T	0.32	.	10.627	0.45512	0.0:1.0:0.0:0.0	.	166;166;378	B4DR24;Q9NX65;Q6WMU8	.;ZN434_HUMAN;.	N	166;378;378;89;166	ENSP00000302502:D166N;ENSP00000380061:D378N;ENSP00000380057:D378N;ENSP00000391787:D89N;ENSP00000407312:D166N	ENSP00000302502:D166N	D	-	1	0	ZNF434	3374562	0.004000	0.15560	0.050000	0.19076	0.413000	0.31143	1.177000	0.31969	1.620000	0.50308	0.655000	0.94253	GAT		0.527	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251509.2	NM_017810		18	129	0	0	0	0	18	129				
PDXDC1	23042	broad.mit.edu	37	16	15130131	15130131	+	Silent	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr16:15130131G>A	ENST00000396410.4	+	23	2463	c.2366G>A	c.(2365-2367)tGa>tAa	p.*789*	PDXDC1_ENST00000447912.2_Silent_p.*698*|PDXDC1_ENST00000569715.1_Silent_p.*762*|PDXDC1_ENST00000563679.1_Silent_p.*807*|PDXDC1_ENST00000325823.7_Silent_p.*774*|PDXDC1_ENST00000535621.2_Intron|PDXDC1_ENST00000450288.2_Silent_p.*761*	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	0					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGCTTAAGATGAGACTCATTG	0.478																																						uc002dda.3		NA																	0				skin(1)	1						c.(2365-2367)TGA>TAA		pyridoxal-dependent decarboxylase domain	Pyridoxal Phosphate(DB00114)						138.0	146.0	144.0					16																	15130131		2197	4300	6497	SO:0001819	synonymous_variant	23042				carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding	g.chr16:15130131G>A	AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.2366G>A	16.37:g.15130131G>A						PDXDC1_uc010uzl.1_Silent_p.*774*|PDXDC1_uc010uzm.1_Silent_p.*698*|PDXDC1_uc002ddb.3_Silent_p.*762*|PDXDC1_uc010uzn.1_Silent_p.*761*|PDXDC1_uc002ddc.2_Intron	p.*789*	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN			23	2590	+			789					B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Silent	SNP	ENST00000396410.4	37	c.2366G>A	CCDS32393.1																																																																																				0.478	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2	NM_015027		11	85	0	0	0	0	11	85				
ITGAM	3684	broad.mit.edu	37	16	31282283	31282283	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr16:31282283C>G	ENST00000287497.8	+	6	511	c.436C>G	c.(436-438)Caa>Gaa	p.Q146E	ITGAM_ENST00000544665.3_Missense_Mutation_p.Q146E			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	146					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AGGGTGTCCTCAAGAGGATAG	0.453																																						uc002ebq.2		NA																	0				kidney(1)	1						c.(436-438)CAA>GAA		integrin alpha M isoform 2 precursor							235.0	216.0	222.0					16																	31282283		1913	4137	6050	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31282283C>G	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.436C>G	16.37:g.31282283C>G	ENSP00000287497:p.Gln146Glu					ITGAM_uc002ebr.2_Missense_Mutation_p.Q146E	p.Q146E	NM_000632	NP_000623	P11215	ITAM_HUMAN			6	534	+			146			Extracellular (Potential).		Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.436C>G	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.462068	0.01062	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.21191	2.02;2.02	5.5	0.47	0.16747	.	.	.	.	.	T	0.16214	0.0390	L	0.36672	1.1	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.23868	-1.0176	9	0.40728	T	0.16	.	9.9549	0.41660	0.453:0.4408:0.1062:0.0	.	146;146	Q4VAK1;P11215	.;ITAM_HUMAN	E	146	ENSP00000441691:Q146E;ENSP00000287497:Q146E	ENSP00000287497:Q146E	Q	+	1	0	ITGAM	31189784	0.440000	0.25618	0.134000	0.22075	0.068000	0.16541	0.851000	0.27751	0.079000	0.16929	-1.268000	0.01426	CAA		0.453	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		42	216	0	0	0	0	42	216				
ADCY7	113	broad.mit.edu	37	16	50348223	50348223	+	Silent	SNP	C	C	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr16:50348223C>A	ENST00000394697.2	+	24	3217	c.2877C>A	c.(2875-2877)gcC>gcA	p.A959A	ADCY7_ENST00000254235.3_Silent_p.A959A			P51828	ADCY7_HUMAN	adenylate cyclase 7	959	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		GGCAGCATGCCCACATTGGTG	0.622																																						uc002egd.1		NA																	0				skin(1)	1						c.(2875-2877)GCC>GCA		adenylate cyclase 7	Bromocriptine(DB01200)						91.0	67.0	75.0					16																	50348223		2198	4300	6498	SO:0001819	synonymous_variant	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50348223C>A	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.2877C>A	16.37:g.50348223C>A							p.A959A	NM_001114	NP_001105	P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	23	3145	+		all_cancers(37;0.0127)	959			Cytoplasmic (Potential).|Guanylate cyclase 2.		A0AVA6	Silent	SNP	ENST00000394697.2	37	c.2877C>A	CCDS10741.1																																																																																				0.622	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			5	37	1	0	0.00116845	0.00196211	5	37				
USP6	9098	broad.mit.edu	37	17	5048731	5048731	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:5048731C>T	ENST00000574788.1	+	27	4254	c.2024C>T	c.(2023-2025)tCa>tTa	p.S675L	USP6_ENST00000250066.6_Missense_Mutation_p.S675L|USP6_ENST00000332776.4_Missense_Mutation_p.S675L|USP6_ENST00000304328.5_Missense_Mutation_p.S358L			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	675	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AGAAATAGATCAATTATTGTG	0.358			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	uc002gau.1		NA		Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	COL1A1|CDH11|ZNF9|OMD		aneurysmal bone cysts		0				skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						c.(2023-2025)TCA>TTA		ubiquitin specific protease 6							113.0	105.0	107.0					17																	5048731		2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5048731C>T	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.2024C>T	17.37:g.5048731C>T	ENSP00000460380:p.Ser675Leu					USP6_uc002gav.1_Missense_Mutation_p.S675L|USP6_uc010ckz.1_Missense_Mutation_p.S358L	p.S675L	NM_004505	NP_004496	P35125	UBP6_HUMAN			27	4254	+			675					Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.2024C>T	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727954	0.69074	.	.	ENSG00000129204	ENST00000332776;ENST00000250066;ENST00000304328	T;T;T	0.36157	1.27;1.27;1.27	2.36	2.36	0.29203	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.63780	0.2540	M	0.91354	3.2	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.71080	-0.4696	10	0.87932	D	0	.	10.4264	0.44380	0.0:1.0:0.0:0.0	.	358;675	P35125-2;P35125	.;UBP6_HUMAN	L	675;675;358	ENSP00000328010:S675L;ENSP00000250066:S675L;ENSP00000305473:S358L	ENSP00000250066:S675L	S	+	2	0	USP6	4989455	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	7.544000	0.82117	1.318000	0.45170	0.194000	0.17425	TCA		0.358	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		9	62	0	0	0	0	9	62				
KIAA0753	9851	broad.mit.edu	37	17	6510503	6510503	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:6510503C>G	ENST00000361413.3	-	11	2275	c.1917G>C	c.(1915-1917)caG>caC	p.Q639H	KIAA0753_ENST00000575027.1_5'Flank|KIAA0753_ENST00000572370.1_Missense_Mutation_p.Q340H|KIAA0753_ENST00000542606.1_Missense_Mutation_p.Q340H|KIAA0753_ENST00000589033.1_Missense_Mutation_p.Q95H	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	639						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		ATATTTACCTCTGTTTTTGCA	0.373																																						uc002gde.3		NA																	0					0						c.(1915-1917)CAG>CAC		hypothetical protein LOC9851							218.0	210.0	213.0					17																	6510503		1850	4097	5947	SO:0001583	missense	9851					centrosome		g.chr17:6510503C>G		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.1917G>C	17.37:g.6510503C>G	ENSP00000355250:p.Gln639His					KIAA0753_uc010vtd.1_Missense_Mutation_p.Q95H|KIAA0753_uc010clo.2_Missense_Mutation_p.Q340H|KIAA0753_uc010vte.1_Missense_Mutation_p.Q340H	p.Q639H	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	11	2276	-			639			Potential.		A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	ENST00000361413.3	37	c.1917G>C	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.859937	0.32884	.	.	ENSG00000198920	ENST00000361413;ENST00000542606;ENST00000542826	D;D	0.86769	-2.17;-2.17	5.21	4.22	0.49857	.	1.052130	0.07370	N	0.885551	D	0.89259	0.6664	L	0.60455	1.87	0.27874	N	0.93995	P	0.47677	0.899	P	0.50378	0.639	T	0.78917	-0.2015	10	0.44086	T	0.13	-9.8563	11.8296	0.52288	0.0:0.824:0.176:0.0	.	639	Q2KHM9	K0753_HUMAN	H	639;340;95	ENSP00000355250:Q639H;ENSP00000444634:Q340H	ENSP00000355250:Q639H	Q	-	3	2	KIAA0753	6451227	0.995000	0.38212	0.984000	0.44739	0.905000	0.53344	2.130000	0.42064	1.534000	0.49203	0.650000	0.86243	CAG		0.373	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		20	167	0	0	0	0	20	167				
BCL6B	255877	broad.mit.edu	37	17	6930392	6930392	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:6930392G>C	ENST00000293805.5	+	8	1401	c.1309G>C	c.(1309-1311)Gag>Cag	p.E437Q		NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	437					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			skin(1)	1						CCACACCGGAGAGAAGCCTTA	0.632																																						uc002geg.2		NA																	0				skin(1)	1						c.(1309-1311)GAG>CAG		B-cell CLL/lymphoma 6, member B (zinc finger							56.0	64.0	62.0					17																	6930392		2132	4263	6395	SO:0001583	missense	255877					nucleus	zinc ion binding	g.chr17:6930392G>C	AI672318	CCDS42248.1	17p13.1	2014-06-10	2010-04-14		ENSG00000161940	ENSG00000161940		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1002	protein-coding gene	gene with protein product		608992	"""zinc finger protein 62"", ""B-cell CLL/lymphoma 6, member B (zinc finger protein)"""	ZNF62		9632807	Standard	NM_181844		Approved	ZBTB28, BAZF	uc010clt.1	Q8N143	OTTHUMG00000177882	ENST00000293805.5:c.1309G>C	17.37:g.6930392G>C	ENSP00000293805:p.Glu437Gln					BCL6B_uc010clt.1_Missense_Mutation_p.E438Q	p.E437Q	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN			8	1366	+			437					Q6PCB4	Missense_Mutation	SNP	ENST00000293805.5	37	c.1309G>C	CCDS42248.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046727	0.75846	.	.	ENSG00000161940	ENST00000293805;ENST00000537931	T	0.25912	1.77	4.52	4.52	0.55395	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.115834	0.56097	D	0.000024	T	0.49609	0.1567	M	0.73372	2.23	0.47245	D	0.999364	D	0.89917	1.0	D	0.77557	0.99	T	0.52968	-0.8504	10	0.66056	D	0.02	.	14.7848	0.69793	0.0:0.0:1.0:0.0	.	437	Q8N143	BCL6B_HUMAN	Q	437;33	ENSP00000293805:E437Q	ENSP00000293805:E437Q	E	+	1	0	BCL6B	6871116	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	9.466000	0.97665	2.327000	0.79052	0.563000	0.77884	GAG		0.632	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439455.2	NM_181844		4	61	0	0	0	0	4	61				
TP53	7157	broad.mit.edu	37	17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	rs148924904		TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:7578442T>C	ENST00000269305.4	-	5	677	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000420246.2_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	163	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(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)	TGACTGCTTGTAGATGGCCAT	0.622		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		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		183	Substitution - Missense(167)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)	p.Y163C(95)|p.Y163N(17)|p.Y163H(17)|p.Y163*(7)|p.0?(7)|p.Y163S(4)|p.Y163Y(3)|p.Y163fs*1(2)|p.Y163D(2)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.I162_Y163delIY(1)	lung(49)|breast(34)|haematopoietic_and_lymphoid_tissue(14)|ovary(14)|urinary_tract(13)|large_intestine(10)|upper_aerodigestive_tract(9)|central_nervous_system(7)|oesophagus(7)|stomach(6)|biliary_tract(6)|bone(4)|pancreas(3)|soft_tissue(2)|liver(2)|endometrium(1)|salivary_gland(1)|prostate(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	CM942135	TP53	M	rs148924904	c.(487-489)TAC>TGC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							53.0	54.0	53.0					17																	7578442		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.chr17:7578442T>C	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.488A>G	17.37:g.7578442T>C	ENSP00000269305:p.Tyr163Cys	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.Y163C|TP53_uc002gih.2_Missense_Mutation_p.Y163C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y31C|TP53_uc010cng.1_Missense_Mutation_p.Y31C|TP53_uc002gii.1_Missense_Mutation_p.Y31C|TP53_uc010cnh.1_Missense_Mutation_p.Y163C|TP53_uc010cni.1_Missense_Mutation_p.Y163C|TP53_uc002gij.2_Missense_Mutation_p.Y163C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Y70C|TP53_uc002gio.2_Missense_Mutation_p.Y31C|TP53_uc010vug.1_Missense_Mutation_p.Y124C	p.Y163C	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	682	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	163		Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|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.488A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	14.54	2.567047	0.45694	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99872	-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36	5.59	3.32	0.38043	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.062225	0.64402	D	0.000003	D	0.99746	0.9899	M	0.70595	2.14	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.996;0.999;0.983;0.999;1.0;0.999;0.994	D	0.98089	1.0408	10	0.87932	D	0	-16.6607	9.5833	0.39501	0.2797:0.0:0.0:0.7203	.	124;163;163;70;163;163;163	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	163;163;163;163;163;163;152;70;31;70;31;163	ENSP00000410739:Y163C;ENSP00000352610:Y163C;ENSP00000269305:Y163C;ENSP00000398846:Y163C;ENSP00000391127:Y163C;ENSP00000391478:Y163C;ENSP00000425104:Y31C;ENSP00000423862:Y70C;ENSP00000424104:Y163C	ENSP00000269305:Y163C	Y	-	2	0	TP53	7519167	1.000000	0.71417	0.998000	0.56505	0.050000	0.14768	5.141000	0.64814	0.446000	0.26666	0.533000	0.62120	TAC		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	50	0	0	0	0	16	50				
ALOX12B	242	broad.mit.edu	37	17	7984278	7984278	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:7984278G>A	ENST00000319144.4	-	4	711	c.451C>T	c.(451-453)Cct>Tct	p.P151S	AC129492.6_ENST00000399413.3_3'UTR|ALOX12B_ENST00000577351.1_5'Flank	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	151	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GGCAGGCCAGGAAGAAAGACT	0.642										Multiple Myeloma(8;0.094)																												uc002gjy.1		NA																	0					0						c.(451-453)CCT>TCT		arachidonate 12-lipoxygenase, 12R type							69.0	64.0	66.0					17																	7984278		2203	4300	6503	SO:0001583	missense	242				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7984278G>A	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.451C>T	17.37:g.7984278G>A	ENSP00000315167:p.Pro151Ser	Multiple Myeloma(8;0.094)				uc010cnq.1_RNA	p.P151S	NM_001139	NP_001130	O75342	LX12B_HUMAN			4	712	-			151			Lipoxygenase.			Missense_Mutation	SNP	ENST00000319144.4	37	c.451C>T	CCDS11129.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117111	0.56505	.	.	ENSG00000179477	ENST00000319144	D	0.90197	-2.63	4.78	4.78	0.61160	Lipoxygenase, C-terminal (2);	0.081474	0.49305	D	0.000141	D	0.90549	0.7038	L	0.52126	1.63	0.32293	N	0.566005	P	0.51449	0.945	P	0.50570	0.644	D	0.92607	0.6096	10	0.66056	D	0.02	-24.7321	13.7238	0.62745	0.0:0.0:1.0:0.0	.	151	O75342	LX12B_HUMAN	S	151	ENSP00000315167:P151S	ENSP00000315167:P151S	P	-	1	0	ALOX12B	7925003	1.000000	0.71417	0.750000	0.31169	0.117000	0.20001	3.103000	0.50298	2.382000	0.81193	0.555000	0.69702	CCT		0.642	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3			6	66	0	0	0	0	6	66				
MYH1	4619	broad.mit.edu	37	17	10408257	10408257	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:10408257G>T	ENST00000226207.5	-	22	2655	c.2561C>A	c.(2560-2562)gCc>gAc	p.A854D	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	854					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTCATGTTGGCCATCTCCTT	0.443																																						uc002gmo.2		NA																	0				ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(2560-2562)GCC>GAC		myosin, heavy chain 1, skeletal muscle, adult							155.0	144.0	148.0					17																	10408257		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10408257G>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.2561C>A	17.37:g.10408257G>T	ENSP00000226207:p.Ala854Asp					uc002gml.1_Intron	p.A854D	NM_005963	NP_005954	P12882	MYH1_HUMAN			22	2655	-			854			Potential.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.2561C>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.105299	0.56291	.	.	ENSG00000109061	ENST00000226207	D	0.94138	-3.36	5.48	5.48	0.80851	.	0.000000	0.42964	U	0.000638	D	0.93510	0.7929	M	0.85197	2.74	0.41070	D	0.985445	B	0.06786	0.001	B	0.10450	0.005	D	0.90874	0.4748	10	0.52906	T	0.07	.	14.5454	0.68027	0.0:0.0:0.8537:0.1463	.	854	P12882	MYH1_HUMAN	D	854	ENSP00000226207:A854D	ENSP00000226207:A854D	A	-	2	0	MYH1	10348982	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.396000	0.66297	2.749000	0.94314	0.655000	0.94253	GCC		0.443	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		18	98	1	0	0.000175454	0.000300297	18	98				
AKAP10	11216	broad.mit.edu	37	17	19850729	19850729	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:19850729C>T	ENST00000225737.6	-	5	1124	c.967G>A	c.(967-969)Gac>Aac	p.D323N	AKAP10_ENST00000395536.3_Missense_Mutation_p.D323N	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	323	RGS 1. {ECO:0000255|PROSITE- ProRule:PRU00171}.				blood coagulation (GO:0007596)|protein localization (GO:0008104)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					CCTATGATGTCATTTCTCATT	0.323																																						uc002gwo.2		NA																	0				skin(1)	1						c.(967-969)GAC>AAC		A-kinase anchor protein 10 precursor							183.0	173.0	176.0					17																	19850729		2203	4300	6503	SO:0001583	missense	11216				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity	g.chr17:19850729C>T	AF037439	CCDS11214.1	17p11.1	2008-07-18			ENSG00000108599	ENSG00000108599		"""A-kinase anchor proteins"""	368	protein-coding gene	gene with protein product	"""dual-specificity A-kinase anchoring protein 2"", ""protein kinase A anchoring protein 10"", ""mitochondrial A kinase PPKA anchor protein 10"""	604694				9326583	Standard	NM_007202		Approved	D-AKAP2, PRKA10, MGC9414	uc002gwo.4	O43572	OTTHUMG00000059515	ENST00000225737.6:c.967G>A	17.37:g.19850729C>T	ENSP00000225737:p.Asp323Asn					AKAP10_uc002gwp.1_Missense_Mutation_p.D323N|AKAP10_uc010cqw.1_Missense_Mutation_p.D323N|AKAP10_uc010vze.1_Missense_Mutation_p.D244N	p.D323N	NM_007202	NP_009133	O43572	AKA10_HUMAN			5	1104	-	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)		323			RGS 1.		B2R650|Q96AJ7	Missense_Mutation	SNP	ENST00000225737.6	37	c.967G>A	CCDS11214.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.348186	0.61183	.	.	ENSG00000108599	ENST00000225737;ENST00000395536	T	0.22134	1.97	5.64	5.64	0.86602	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.44540	0.1298	L	0.55481	1.735	0.54753	D	0.999983	D;D;D	0.89917	1.0;0.994;0.999	D;D;D	0.91635	0.999;0.937;0.978	T	0.17289	-1.0374	10	0.54805	T	0.06	-11.7887	18.6957	0.91600	0.0:1.0:0.0:0.0	.	323;323;323	E7EMD6;Q2XPN4;O43572	.;.;AKA10_HUMAN	N	323	ENSP00000225737:D323N	ENSP00000225737:D323N	D	-	1	0	AKAP10	19791321	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.243000	0.78219	2.643000	0.89663	0.655000	0.94253	GAC		0.323	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132380.2	NM_007202		12	98	0	0	0	0	12	98				
PIP4K2B	8396	broad.mit.edu	37	17	36927505	36927505	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:36927505G>C	ENST00000269554.3	-	8	1308	c.828C>G	c.(826-828)atC>atG	p.I276M		NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	276	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						TGTAGTCCATGATCTTCAGCT	0.562																																						uc002hqs.2		NA																	0				ovary(1)	1						c.(826-828)ATC>ATG		phosphatidylinositol-5-phosphate 4-kinase, type							99.0	81.0	88.0					17																	36927505		2203	4300	6503	SO:0001583	missense	8396				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity	g.chr17:36927505G>C	U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"""phosphatidylinositol-4-phosphate 5-kinase, type II, beta"""	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.828C>G	17.37:g.36927505G>C	ENSP00000269554:p.Ile276Met					PIP4K2B_uc010cvp.2_5'Flank	p.I276M	NM_003559	NP_003550	P78356	PI42B_HUMAN			8	1309	-			276			PIPK.		Q5U0E8|Q8TBP2	Missense_Mutation	SNP	ENST00000269554.3	37	c.828C>G	CCDS11329.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331840	0.60853	.	.	ENSG00000141720	ENST00000269554	T	0.52983	0.64	5.29	2.18	0.27775	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.109403	0.64402	D	0.000015	T	0.56804	0.2010	M	0.93462	3.42	0.53688	D	0.999972	B	0.28760	0.221	B	0.35899	0.213	T	0.57093	-0.7870	10	0.87932	D	0	-25.1314	5.0176	0.14345	0.1566:0.0:0.5491:0.2943	.	276	P78356	PI42B_HUMAN	M	276	ENSP00000269554:I276M	ENSP00000269554:I276M	I	-	3	3	PIP4K2B	34181031	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.797000	0.26999	0.370000	0.24538	-0.147000	0.13772	ATC		0.562	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1	NM_003559		8	39	0	0	0	0	8	39				
KRT39	390792	broad.mit.edu	37	17	39122956	39122956	+	Silent	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:39122956G>A	ENST00000355612.2	-	1	188	c.153C>T	c.(151-153)ctC>ctT	p.L51L	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	51	Head.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				AGGGAATTCTGAGAACGTGGC	0.498																																						uc002hvo.1		NA																	0					0						c.(151-153)CTC>CTT		type I hair keratin KA35							162.0	167.0	165.0					17																	39122956		2203	4296	6499	SO:0001819	synonymous_variant	390792					intermediate filament	structural molecule activity	g.chr17:39122956G>A	AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.153C>T	17.37:g.39122956G>A						KRT39_uc010wfm.1_5'UTR	p.L51L	NM_213656	NP_998821	Q6A163	K1C39_HUMAN			1	189	-		Breast(137;0.00043)|Ovarian(249;0.15)	51			Head.		B2RXK6|Q6IFU6	Silent	SNP	ENST00000355612.2	37	c.153C>T	CCDS11382.1																																																																																				0.498	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257287.1	NM_213656		41	243	0	0	0	0	41	243				
ITGA3	3675	broad.mit.edu	37	17	48148225	48148225	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:48148225C>T	ENST00000320031.8	+	5	1012	c.682C>T	c.(682-684)Cag>Tag	p.Q228*	ITGA3_ENST00000007722.7_Nonsense_Mutation_p.Q228*|ITGA3_ENST00000544892.1_Nonsense_Mutation_p.Q3*	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	228					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CTACATGATTCAGCGCAAGGA	0.502																																						uc010dbl.2		NA																	0				ovary(2)|pancreas(1)	3						c.(682-684)CAG>TAG		integrin alpha 3 isoform a precursor							186.0	194.0	191.0					17																	48148225		2203	4300	6503	SO:0001587	stop_gained	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48148225C>T	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.682C>T	17.37:g.48148225C>T	ENSP00000315190:p.Gln228*					ITGA3_uc010dbm.2_Nonsense_Mutation_p.Q228*	p.Q228*	NM_002204	NP_002195	P26006	ITA3_HUMAN			5	1146	+			228			FG-GAP 3.|Extracellular (Potential).		A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Nonsense_Mutation	SNP	ENST00000320031.8	37	c.682C>T	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	C	42	9.527691	0.99196	.	.	ENSG00000005884	ENST00000544892;ENST00000007722;ENST00000538917;ENST00000320031	.	.	.	5.69	5.69	0.88448	.	0.311822	0.36101	N	0.002788	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	15.3058	0.73990	0.0:1.0:0.0:0.0	.	.	.	.	X	3;228;214;228	.	ENSP00000007722:Q228X	Q	+	1	0	ITGA3	45503224	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.209000	0.58493	2.682000	0.91365	0.655000	0.94253	CAG		0.502	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		37	229	0	0	0	0	37	229				
BZRAP1	9256	broad.mit.edu	37	17	56397485	56397485	+	Silent	SNP	G	G	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:56397485G>T	ENST00000343736.4	-	12	1642	c.1479C>A	c.(1477-1479)acC>acA	p.T493T	BZRAP1_ENST00000355701.3_Silent_p.T493T|BZRAP1_ENST00000268893.6_Silent_p.T433T			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	493						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGAATCCAAGGTAGACTGTT	0.592																																						uc002ivx.3		NA																	0				upper_aerodigestive_tract(2)|skin(1)	3						c.(1477-1479)ACC>ACA		peripheral benzodiazepine receptor-associated							111.0	95.0	100.0					17																	56397485		2203	4300	6503	SO:0001819	synonymous_variant	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56397485G>T	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.1479C>A	17.37:g.56397485G>T						BZRAP1_uc010dcs.2_Silent_p.T433T|BZRAP1_uc010wnt.1_Silent_p.T493T	p.T493T	NM_004758	NP_004749	O95153	RIMB1_HUMAN			12	2350	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		493					O75111|Q8N5W3	Silent	SNP	ENST00000343736.4	37	c.1479C>A	CCDS11605.1																																																																																				0.592	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		9	47	1	0	3.1e-07	5.46e-07	9	47				
CCDC47	57003	broad.mit.edu	37	17	61838631	61838631	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:61838631A>C	ENST00000225726.5	-	5	1010	c.628T>G	c.(628-630)Tct>Gct	p.S210A	CCDC47_ENST00000582252.1_Missense_Mutation_p.S210A|CCDC47_ENST00000403162.3_Missense_Mutation_p.S210A	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	210					calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						ACTCGACCAGAACACCACAGG	0.433																																						uc002jbs.3		NA																	0					0						c.(628-630)TCT>GCT		coiled-coil domain containing 47 precursor							302.0	245.0	264.0					17																	61838631		2203	4300	6503	SO:0001583	missense	57003					integral to membrane	protein binding	g.chr17:61838631A>C	AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.628T>G	17.37:g.61838631A>C	ENSP00000225726:p.Ser210Ala					CCDC47_uc010ddx.2_Missense_Mutation_p.S210A|CCDC47_uc002jbt.2_Missense_Mutation_p.S210A	p.S210A	NM_020198	NP_064583	Q96A33	CCD47_HUMAN			5	964	-			210					B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Missense_Mutation	SNP	ENST00000225726.5	37	c.628T>G	CCDS11643.1	.	.	.	.	.	.	.	.	.	.	A	15.71	2.914839	0.52546	.	.	ENSG00000108588	ENST00000225726;ENST00000403162	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.79953	0.4535	M	0.82056	2.57	0.80722	D	1	D;D	0.63046	0.99;0.992	D;D	0.79108	0.986;0.992	T	0.82719	-0.0318	9	0.72032	D	0.01	-13.4833	15.1507	0.72696	1.0:0.0:0.0:0.0	.	210;210	Q96A33-2;Q96A33	.;CCD47_HUMAN	A	210	.	ENSP00000225726:S210A	S	-	1	0	CCDC47	59192363	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.145000	0.94634	2.228000	0.72767	0.482000	0.46254	TCT		0.433	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444016.2	NM_020198		17	96	0	0	0	0	17	96				
CACNG5	27091	broad.mit.edu	37	17	64876761	64876761	+	Missense_Mutation	SNP	G	G	A	rs145214481		TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:64876761G>A	ENST00000533854.1	+	4	608	c.371G>A	c.(370-372)cGt>cAt	p.R124H	CACNG5_ENST00000169565.3_Missense_Mutation_p.R124H|CACNG5_ENST00000307139.3_Missense_Mutation_p.R124H			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	124					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GGACACATCCGTCCCCACCGG	0.458													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20003	0.0		0.0	False		,,,				2504	0.0					uc010wqi.1		NA																	0				pancreas(1)|skin(1)	2						c.(370-372)CGT>CAT		voltage-dependent calcium channel gamma-5		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	285.0	232.0	250.0		371	3.7	1.0	17	dbSNP_134	250	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CACNG5	NM_145811.2	29	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	possibly-damaging	124/276	64876761	3,13003	2203	4300	6503	SO:0001583	missense	27091				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity	g.chr17:64876761G>A	AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"""Calcium channel subunits"""	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.371G>A	17.37:g.64876761G>A	ENSP00000436836:p.Arg124His					CACNG5_uc002jfr.2_Missense_Mutation_p.R124H|CACNG5_uc010wqj.1_Missense_Mutation_p.R124H	p.R124H	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.61e-08)		4	608	+			124					A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Missense_Mutation	SNP	ENST00000533854.1	37	c.371G>A	CCDS11665.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	15.75	2.926032	0.52759	4.54E-4	1.16E-4	ENSG00000075429	ENST00000533854;ENST00000307139;ENST00000169565	D;D;D	0.89343	-2.5;-2.5;-2.5	3.67	3.67	0.42095	.	0.000000	0.64402	U	0.000001	D	0.90428	0.7003	M	0.65975	2.015	0.58432	D	0.999999	P	0.51057	0.941	P	0.53988	0.739	D	0.88104	0.2821	10	0.14656	T	0.56	-2.446	15.2223	0.73320	0.0:0.0:1.0:0.0	.	124	Q9UF02	CCG5_HUMAN	H	124	ENSP00000436836:R124H;ENSP00000303092:R124H;ENSP00000169565:R124H	ENSP00000169565:R124H	R	+	2	0	CACNG5	62307223	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.351000	0.97073	1.966000	0.57179	0.591000	0.81541	CGT		0.458	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389882.1	NM_014404, NM_145811		20	129	0	0	0	0	20	129				
RAC3	5881	broad.mit.edu	37	17	79991361	79991361	+	Silent	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:79991361C>T	ENST00000306897.4	+	5	472	c.334C>T	c.(334-336)Ctg>Ttg	p.L112L		NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)	112					actin cytoskeleton organization (GO:0030036)|cell projection assembly (GO:0030031)|GTP catabolic process (GO:0006184)|intracellular signal transduction (GO:0035556)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|kidney(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GCCCATCCTCCTGGTGGGCAC	0.672																																						uc002kdf.2		NA																	0					0						c.(334-336)CTG>TTG		ras-related C3 botulinum toxin substrate 3 (rho							54.0	49.0	51.0					17																	79991361		2201	4300	6501	SO:0001819	synonymous_variant	5881				actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr17:79991361C>T	AF008591	CCDS11798.1	17q25.3	2014-01-30				ENSG00000169750		"""Endogenous ligands"""	9803	protein-coding gene	gene with protein product		602050					Standard	NM_005052		Approved		uc002kdf.3	P60763		ENST00000306897.4:c.334C>T	17.37:g.79991361C>T							p.L112L	NM_005052	NP_005043	P60763	RAC3_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		5	440	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		112					O14658|Q5U0M8	Silent	SNP	ENST00000306897.4	37	c.334C>T	CCDS11798.1																																																																																				0.672	RAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442064.1			4	47	0	0	0	0	4	47				
RAC3	5881	broad.mit.edu	37	17	79991599	79991599	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:79991599C>G	ENST00000306897.4	+	6	611	c.473C>G	c.(472-474)tCa>tGa	p.S158*	DCXR_ENST00000584318.1_5'Flank	NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)	158					actin cytoskeleton organization (GO:0030036)|cell projection assembly (GO:0030031)|GTP catabolic process (GO:0006184)|intracellular signal transduction (GO:0035556)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|kidney(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CTGGAGTGCTCAGCCCTGACC	0.657																																						uc002kdf.2		NA																	0					0						c.(472-474)TCA>TGA		ras-related C3 botulinum toxin substrate 3 (rho							62.0	56.0	58.0					17																	79991599		2202	4300	6502	SO:0001587	stop_gained	5881				actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr17:79991599C>G	AF008591	CCDS11798.1	17q25.3	2014-01-30				ENSG00000169750		"""Endogenous ligands"""	9803	protein-coding gene	gene with protein product		602050					Standard	NM_005052		Approved		uc002kdf.3	P60763		ENST00000306897.4:c.473C>G	17.37:g.79991599C>G	ENSP00000304283:p.Ser158*						p.S158*	NM_005052	NP_005043	P60763	RAC3_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		6	579	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		158					O14658|Q5U0M8	Nonsense_Mutation	SNP	ENST00000306897.4	37	c.473C>G	CCDS11798.1	.	.	.	.	.	.	.	.	.	.	c	35	5.552462	0.96501	.	.	ENSG00000169750	ENST00000306897	.	.	.	3.74	3.74	0.42951	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7307	0.77800	0.0:1.0:0.0:0.0	.	.	.	.	X	158	.	.	S	+	2	0	RAC3	77584888	1.000000	0.71417	0.991000	0.47740	0.968000	0.65278	7.465000	0.80898	1.907000	0.55213	0.586000	0.80456	TCA		0.657	RAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442064.1			9	43	0	0	0	0	9	43				
CTAGE1	64693	broad.mit.edu	37	18	19995815	19995815	+	5'Flank	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr18:19995815C>T	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.E654K			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					CCAGTTGCTTCATTTTCAGCG	0.453																																						uc002ktv.1		NA																	0				ovary(1)	1						c.(1960-1962)GAA>AAA		cutaneous T-cell lymphoma-associated antigen 1							127.0	140.0	136.0					18																	19995815		2203	4298	6501	SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19995815C>T	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19995815C>T	Exception_encountered						p.E654K	NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN			1	2064	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		654					B0YIZ3	Missense_Mutation	SNP	ENST00000525417.1	37	c.1960G>A		.	.	.	.	.	.	.	.	.	.	C	9.628	1.135568	0.21123	.	.	ENSG00000212710	ENST00000391403	T	0.09445	2.98	0.614	0.614	0.17603	.	.	.	.	.	T	0.14013	0.0339	M	0.75447	2.3	0.20489	N	0.999896	B	0.23058	0.079	B	0.29077	0.098	T	0.26883	-1.0090	7	.	.	.	.	.	.	.	.	654	Q96RT6	CTGE2_HUMAN	K	654	ENSP00000375220:E654K	.	E	-	1	0	CTAGE1	18249813	0.604000	0.26932	0.265000	0.24526	0.090000	0.18270	1.009000	0.29886	0.581000	0.29539	0.298000	0.19748	GAA		0.453	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		24	244	0	0	0	0	24	244				
AP3D1	8943	broad.mit.edu	37	19	2110168	2110168	+	Silent	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:2110168C>T	ENST00000345016.5	-	26	3276	c.3045G>A	c.(3043-3045)caG>caA	p.Q1015Q	AP3D1_ENST00000356926.4_Silent_p.Q974Q|AP3D1_ENST00000350812.6_Silent_p.Q846Q|AP3D1_ENST00000355272.6_Silent_p.Q1077Q	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	1015					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTTGAGCTTCTGCGCCATGA	0.642																																						uc002luz.2		NA																	0					0						c.(3043-3045)CAG>CAA		adaptor-related protein complex 3, delta 1							70.0	71.0	71.0					19																	2110168		2059	4181	6240	SO:0001819	synonymous_variant	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2110168C>T	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.3045G>A	19.37:g.2110168C>T						AP3D1_uc010dsv.2_Silent_p.Q105Q|AP3D1_uc002luy.2_Silent_p.Q974Q|AP3D1_uc002lva.2_Silent_p.Q1077Q	p.Q1015Q	NM_003938	NP_003929	O14617	AP3D1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	26	3268	-		Hepatocellular(1079;0.137)	1015					O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Silent	SNP	ENST00000345016.5	37	c.3045G>A	CCDS42459.1																																																																																				0.642	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			9	39	0	0	0	0	9	39				
ZNF77	58492	broad.mit.edu	37	19	2934164	2934164	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:2934164C>G	ENST00000314531.4	-	4	1053	c.961G>C	c.(961-963)Gag>Cag	p.E321Q		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	321					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGTTTCTCTCCAGTGTGC	0.458																																						uc002lws.3		NA																	0				ovary(1)	1						c.(961-963)GAG>CAG		zinc finger protein 77							155.0	140.0	145.0					19																	2934164		2203	4300	6503	SO:0001583	missense	58492				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding	g.chr19:2934164C>G	X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13150	protein-coding gene	gene with protein product		194551	"""zinc finger protein 77 (pT1)"""			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.961G>C	19.37:g.2934164C>G	ENSP00000319053:p.Glu321Gln						p.E321Q	NM_021217	NP_067040	Q15935	ZNF77_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1092	-			321					Q86XJ3|Q9NPP0	Missense_Mutation	SNP	ENST00000314531.4	37	c.961G>C	CCDS12099.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828344	0.50845	.	.	ENSG00000175691	ENST00000341064;ENST00000314531	T	0.25912	1.77	3.03	3.03	0.35002	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30696	0.0773	L	0.43646	1.37	0.25779	N	0.984749	P	0.45212	0.853	P	0.48901	0.594	T	0.09335	-1.0679	9	0.62326	D	0.03	.	11.508	0.50479	0.0:1.0:0.0:0.0	.	321	Q15935	ZNF77_HUMAN	Q	115;321	ENSP00000319053:E321Q	ENSP00000319053:E321Q	E	-	1	0	ZNF77	2885164	0.991000	0.36638	0.942000	0.38095	0.945000	0.59286	3.129000	0.50500	1.538000	0.49270	0.491000	0.48974	GAG		0.458	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1	NM_021217		9	91	0	0	0	0	9	91				
SAFB	6294	broad.mit.edu	37	19	5667066	5667066	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:5667066G>A	ENST00000292123.5	+	18	2451	c.2344G>A	c.(2344-2346)Gaa>Aaa	p.E782K	SAFB_ENST00000538656.1_Missense_Mutation_p.E624K|SAFB_ENST00000588852.1_Missense_Mutation_p.E782K|SAFB_ENST00000454510.1_Missense_Mutation_p.E713K|SAFB_ENST00000433404.1_Missense_Mutation_p.E612K|SAFB_ENST00000592224.1_Missense_Mutation_p.E781K	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	782	Arg-rich.|Interaction with POLR2A.|Interaction with SAFB2.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GCATTACCCAGAACGCCATGG	0.607																																					Colon(88;338 1345 6184 8214 20897)	uc002mcf.2		NA																	0				ovary(1)|liver(1)|skin(1)	3						c.(2344-2346)GAA>AAA		scaffold attachment factor B							68.0	76.0	73.0					19																	5667066		2203	4298	6501	SO:0001583	missense	6294				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5667066G>A	L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.2344G>A	19.37:g.5667066G>A	ENSP00000292123:p.Glu782Lys					SAFB_uc002mcg.2_Missense_Mutation_p.E782K|SAFB_uc002mce.3_Missense_Mutation_p.E781K|SAFB_uc010xir.1_Missense_Mutation_p.E781K|SAFB_uc010xis.1_Missense_Mutation_p.E713K|SAFB_uc010xit.1_Missense_Mutation_p.E624K|SAFB_uc010xiu.1_Missense_Mutation_p.E581K	p.E782K	NM_002967	NP_002958	Q15424	SAFB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)	18	2397	+			782			Interaction with SAFB2.|Interaction with POLR2A.|Arg-rich.		A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	ENST00000292123.5	37	c.2344G>A	CCDS12142.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083697	0.55861	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	T;T;T;T	0.09163	3.02;3.19;3.02;3.01	5.4	5.4	0.78164	.	0.110120	0.39909	N	0.001227	T	0.20251	0.0487	M	0.66939	2.045	0.43564	D	0.995888	P;P;P;P;P;P;P	0.49961	0.884;0.884;0.93;0.884;0.884;0.884;0.884	B;B;P;B;B;B;B	0.47915	0.275;0.275;0.561;0.358;0.358;0.358;0.358	T	0.01114	-1.1447	10	0.26408	T	0.33	-27.87	17.7057	0.88309	0.0:0.0:1.0:0.0	.	581;624;713;781;782;782;781	B7Z1C7;B7Z2F6;F5H0H3;B7ZLP5;A0AV56;Q15424;B7ZLP6	.;.;.;.;.;SAFB1_HUMAN;.	K	713;677;612;782;624	ENSP00000415895:E713K;ENSP00000404545:E612K;ENSP00000292123:E782K;ENSP00000438880:E624K	ENSP00000292123:E782K	E	+	1	0	SAFB	5618066	1.000000	0.71417	0.361000	0.25849	0.709000	0.40893	5.853000	0.69496	2.680000	0.91292	0.555000	0.69702	GAA		0.607	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2			14	113	0	0	0	0	14	113				
CCDC151	115948	broad.mit.edu	37	19	11532486	11532486	+	Silent	SNP	G	G	A	rs367797540		TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:11532486G>A	ENST00000356392.4	-	11	1536	c.1449C>T	c.(1447-1449)ttC>ttT	p.F483F	RGL3_ENST00000380456.3_5'Flank|CCDC151_ENST00000591179.1_Silent_p.F423F|CCDC151_ENST00000586836.1_Silent_p.F292F|RGL3_ENST00000393423.3_5'Flank|CCDC151_ENST00000545100.1_Silent_p.F429F	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	483										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CCTTTCCCGCGAAGCGGCCGT	0.662																																						uc002mrs.2		NA																	0				ovary(1)	1						c.(1447-1449)TTC>TTT		coiled-coil domain containing 151		G		1,3727		0,1,1863	40.0	44.0	43.0		1449	-3.0	0.0	19		43	1,8155		0,1,4077	no	coding-synonymous	CCDC151	NM_145045.4		0,2,5940	AA,AG,GG		0.0123,0.0268,0.0168		483/596	11532486	2,11882	1864	4078	5942	SO:0001819	synonymous_variant	115948							g.chr19:11532486G>A		CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.1449C>T	19.37:g.11532486G>A						CCDC151_uc002mrr.2_Silent_p.F418F|CCDC151_uc010dxz.2_Silent_p.F423F|RGL3_uc002mrn.2_5'Flank|RGL3_uc002mrm.2_5'Flank|RGL3_uc002mro.2_5'Flank|RGL3_uc002mrp.2_5'Flank|RGL3_uc002mrq.2_5'Flank	p.F483F	NM_145045	NP_659482	A5D8V7	CC151_HUMAN			11	1592	-			483					B4DXT0|Q96CG5	Silent	SNP	ENST00000356392.4	37	c.1449C>T	CCDS42501.1																																																																																				0.662	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458800.1	NM_145045		11	65	0	0	0	0	11	65				
MAST1	22983	broad.mit.edu	37	19	12951862	12951862	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:12951862C>G	ENST00000251472.4	+	3	269	c.230C>G	c.(229-231)tCg>tGg	p.S77W	MAST1_ENST00000591495.1_Missense_Mutation_p.S73W	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GCCCACTTCTCGTTTGCCTCC	0.632																																						uc002mvm.2		NA																	0				ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						c.(229-231)TCG>TGG		microtubule associated serine/threonine kinase							75.0	79.0	77.0					19																	12951862		2203	4300	6503	SO:0001583	missense	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12951862C>G	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.230C>G	19.37:g.12951862C>G	ENSP00000251472:p.Ser77Trp					MAST1_uc002mvk.2_Missense_Mutation_p.S73W|MAST1_uc002mvl.2_Missense_Mutation_p.S77W	p.S77W	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN			3	358	+			77						Missense_Mutation	SNP	ENST00000251472.4	37	c.230C>G	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304636	0.81136	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.31769	1.48	5.97	4.94	0.65067	Microtubule-associated serine/threonine-protein kinase, domain (1);	0.266856	0.31061	N	0.008325	T	0.58047	0.2095	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.85130	0.997;0.972;0.977	T	0.64719	-0.6341	10	0.87932	D	0	-12.0397	13.0201	0.58781	0.0:0.9224:0.0:0.0776	.	77;77;77	Q9Y2H9;B4DMN4;F5H2S9	MAST1_HUMAN;.;.	W	77	ENSP00000251472:S77W	ENSP00000251472:S77W	S	+	2	0	MAST1	12812862	1.000000	0.71417	0.530000	0.27963	0.982000	0.71751	5.640000	0.67875	1.548000	0.49413	0.655000	0.94253	TCG		0.632	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		17	77	0	0	0	0	17	77				
GADD45GIP1	90480	broad.mit.edu	37	19	13065144	13065144	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:13065144C>G	ENST00000316939.1	-	2	570	c.547G>C	c.(547-549)Gag>Cag	p.E183Q		NM_052850.3	NP_443082.2	Q8TAE8	G45IP_HUMAN	growth arrest and DNA-damage-inducible, gamma interacting protein 1	183					cell cycle (GO:0007049)|viral process (GO:0016032)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				ovary(2)|prostate(1)|skin(1)	4						TCCTTCTTCTCTAGGTCCTGG	0.627																																						uc002mwb.2		NA																	0				ovary(1)|skin(1)	2						c.(547-549)GAG>CAG		growth arrest and DNA-damage-inducible, gamma							76.0	80.0	78.0					19																	13065144		2203	4300	6503	SO:0001583	missense	90480				cell cycle|interspecies interaction between organisms	nucleus	protein binding	g.chr19:13065144C>G	AF479749	CCDS12290.1	19p13.2	2014-02-12				ENSG00000179271			29996	protein-coding gene	gene with protein product	"""papillomavirus L2 interacting nuclear protein 1"", ""CKII beta binding protein 2"", ""CR6 interacting factor 1"", ""p53-responsive gene 6"""	605162				10441517, 12482659	Standard	NM_052850		Approved	PLINP-1, MGC4667, MGC4758, CKBBP2, PRG6, Plinp1, CRIF1, CKbetaBP2	uc002mwb.4	Q8TAE8		ENST00000316939.1:c.547G>C	19.37:g.13065144C>G	ENSP00000323065:p.Glu183Gln						p.E183Q	NM_052850	NP_443082	Q8TAE8	G45IP_HUMAN			2	571	-			183			Potential.		Q8IVM3|Q8TE51|Q969P9|Q9BSM6	Missense_Mutation	SNP	ENST00000316939.1	37	c.547G>C	CCDS12290.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.754733	0.69648	.	.	ENSG00000179271	ENST00000316939	.	.	.	4.94	4.94	0.65067	.	0.058929	0.64402	D	0.000004	T	0.78792	0.4339	M	0.77486	2.375	0.53688	D	0.999974	D	0.63046	0.992	D	0.66196	0.942	T	0.82068	-0.0640	9	0.72032	D	0.01	-13.7091	16.9694	0.86295	0.0:1.0:0.0:0.0	.	183	Q8TAE8	G45IP_HUMAN	Q	183	.	ENSP00000323065:E183Q	E	-	1	0	GADD45GIP1	12926144	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.655000	0.74392	2.311000	0.77944	0.558000	0.71614	GAG		0.627	GADD45GIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452759.2	NM_052850		17	130	0	0	0	0	17	130				
CYP4F11	57834	broad.mit.edu	37	19	16025612	16025612	+	Silent	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:16025612C>T	ENST00000402119.4	-	9	1635	c.1209G>A	c.(1207-1209)acG>acA	p.T403T	CYP4F11_ENST00000326742.8_Silent_p.T403T|CYP4F11_ENST00000248041.8_Silent_p.T403T|CYP4F11_ENST00000591841.1_Silent_p.T78T	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CAAAGTCCTGCGTGCAACATC	0.632																																						uc002nbu.2		NA																	0				ovary(1)	1						c.(1207-1209)ACG>ACA		cytochrome P450 family 4 subfamily F polypeptide							83.0	84.0	84.0					19																	16025612		2203	4300	6503	SO:0001819	synonymous_variant	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16025612C>T	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.1209G>A	19.37:g.16025612C>T						CYP4F11_uc010eab.1_Silent_p.T403T|CYP4F11_uc002nbt.2_Silent_p.T403T	p.T403T	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN			10	1245	-			403						Silent	SNP	ENST00000402119.4	37	c.1209G>A	CCDS12337.1																																																																																				0.632	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		19	106	0	0	0	0	19	106				
GATAD2A	54815	broad.mit.edu	37	19	19603492	19603492	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:19603492C>G	ENST00000360315.3	+	4	817	c.505C>G	c.(505-507)Caa>Gaa	p.Q169E	GATAD2A_ENST00000537887.1_Intron|GATAD2A_ENST00000252577.5_Missense_Mutation_p.Q169E|GATAD2A_ENST00000404158.1_Missense_Mutation_p.Q169E|GATAD2A_ENST00000358713.3_Missense_Mutation_p.Q169E|GATAD2A_ENST00000429563.2_Missense_Mutation_p.Q26E	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	169	CR1; MBD2-binding.				anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						GCGGCAGAGTCAAATACAAAA	0.517																																						uc010xqt.1		NA																	0					0						c.(505-507)CAA>GAA		GATA zinc finger domain containing 2A							124.0	116.0	118.0					19																	19603492		2203	4300	6503	SO:0001583	missense	54815				DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:19603492C>G	AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"""GATA zinc finger domain containing"""	29989	protein-coding gene	gene with protein product	"""p66 alpha"""	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.505C>G	19.37:g.19603492C>G	ENSP00000353463:p.Gln169Glu					GATAD2A_uc010xqu.1_Intron|GATAD2A_uc010xqv.1_Missense_Mutation_p.Q188E|GATAD2A_uc010xqw.1_Missense_Mutation_p.Q26E	p.Q169E	NM_017660	NP_060130	Q86YP4	P66A_HUMAN			4	817	+			169			Potential.		B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Missense_Mutation	SNP	ENST00000360315.3	37	c.505C>G	CCDS12402.2	.	.	.	.	.	.	.	.	.	.	C	35	5.523247	0.96431	.	.	ENSG00000167491	ENST00000417582;ENST00000360315;ENST00000252577;ENST00000404158;ENST00000358713;ENST00000429563	T;T;T;T;T	0.75367	-0.52;0.5;0.53;0.5;-0.93	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.85544	0.5721	M	0.72894	2.215	0.80722	D	1	D;D;D	0.69078	0.986;0.997;0.987	D;P;P	0.69654	0.965;0.907;0.823	D	0.86411	0.1748	10	0.87932	D	0	-14.4021	18.4844	0.90823	0.0:1.0:0.0:0.0	.	26;188;169	B4DKZ7;B5MC40;Q86YP4	.;.;P66A_HUMAN	E	169;169;169;188;169;26	ENSP00000403703:Q169E;ENSP00000353463:Q169E;ENSP00000252577:Q169E;ENSP00000351552:Q169E;ENSP00000388416:Q26E	ENSP00000252577:Q169E	Q	+	1	0	GATAD2A	19464492	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.728000	0.84847	2.791000	0.96007	0.561000	0.74099	CAA		0.517	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4	NM_017660		5	54	0	0	0	0	5	54				
ZNF91	7644	broad.mit.edu	37	19	23544684	23544684	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:23544684G>T	ENST00000300619.7	-	4	1302	c.1097C>A	c.(1096-1098)gCt>gAt	p.A366D	ZNF91_ENST00000397082.2_Missense_Mutation_p.A334D|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	366					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CTTATGATTAGCAAGGGTTGA	0.348																																						uc002nre.2		NA																	0					0						c.(1096-1098)GCT>GAT		zinc finger protein 91							39.0	41.0	41.0					19																	23544684		1972	4168	6140	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544684G>T	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1097C>A	19.37:g.23544684G>T	ENSP00000300619:p.Ala366Asp					ZNF91_uc010xrj.1_Missense_Mutation_p.A334D	p.A366D	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	1210	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	366			C2H2-type 8.		A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.1097C>A	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	G	2.562	-0.301539	0.05495	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.36520	1.25;1.25	1.65	-2.91	0.05631	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13200	0.0320	N	0.13299	0.325	0.09310	N	1	B;P	0.37636	0.004;0.603	B;B	0.31547	0.001;0.132	T	0.23013	-1.0200	9	0.12430	T	0.62	.	3.6237	0.08105	0.4684:0.0:0.3548:0.1768	.	334;366	Q05481-2;Q05481	.;ZNF91_HUMAN	D	366;334	ENSP00000300619:A366D;ENSP00000380272:A334D	ENSP00000300619:A366D	A	-	2	0	ZNF91	23336524	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-3.400000	0.00484	-0.746000	0.04766	0.162000	0.16502	GCT		0.348	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		11	42	1	0	6.4e-05	0.000109827	11	42				
ZNF568	374900	broad.mit.edu	37	19	37440746	37440746	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:37440746T>G	ENST00000333987.7	+	7	1197	c.691T>G	c.(691-693)Ttc>Gtc	p.F231V	ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000415168.1_Missense_Mutation_p.F167V|ZNF568_ENST00000455427.2_Intron	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGGACAAGACTTCAGTCATAA	0.388																																						uc002ofc.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(691-693)TTC>GTC		zinc finger protein 568							73.0	74.0	73.0					19																	37440746		2078	4244	6322	SO:0001583	missense	374900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37440746T>G	BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.691T>G	19.37:g.37440746T>G	ENSP00000334685:p.Phe231Val					ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.F155V|ZNF568_uc010efe.2_Missense_Mutation_p.F155V|ZNF568_uc010eff.1_Intron	p.F231V	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		7	1206	+	Esophageal squamous(110;0.183)		231			C2H2-type 1.		B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	ENST00000333987.7	37	c.691T>G	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	T	16.22	3.061943	0.55432	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	T;T	0.13778	2.56;2.56	4.1	4.1	0.47936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38548	N	0.001644	T	0.35682	0.0940	H	0.96015	3.755	0.80722	D	1	P	0.38223	0.623	B	0.43950	0.437	T	0.49331	-0.8951	10	0.87932	D	0	.	11.3647	0.49664	0.0:0.0:0.0:1.0	.	231	Q3ZCX4	ZN568_HUMAN	V	231;167	ENSP00000334685:F231V;ENSP00000394514:F167V	ENSP00000334685:F231V	F	+	1	0	ZNF568	42132586	1.000000	0.71417	0.152000	0.22495	0.988000	0.76386	5.380000	0.66202	1.834000	0.53371	0.528000	0.53228	TTC		0.388	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539		10	57	0	0	0	0	10	57				
SPINT2	10653	broad.mit.edu	37	19	38781203	38781203	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:38781203C>G	ENST00000301244.7	+	6	1015	c.580C>G	c.(580-582)Ctt>Gtt	p.L194V	CTB-102L5.4_ENST00000591889.1_Silent_p.P71P|SPINT2_ENST00000454580.3_Missense_Mutation_p.L137V|SPINT2_ENST00000587090.1_Missense_Mutation_p.L144V	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	194					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCCCCTGCCCCTTGGCTCAAA	0.612																																						uc002ohr.1		NA																	0					0						c.(580-582)CTT>GTT		serine protease inhibitor, Kunitz type, 2							81.0	63.0	69.0					19																	38781203		2203	4300	6503	SO:0001583	missense	10653				cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity	g.chr19:38781203C>G	U78095	CCDS12510.1, CCDS54261.1	19q13.2	2010-05-12	2005-08-17		ENSG00000167642	ENSG00000167642			11247	protein-coding gene	gene with protein product	"""placental bikunin"""	605124	"""serine protease inhibitor, Kunitz type, 2"""			9115294, 9346890	Standard	NM_021102		Approved	Kop, HAI-2	uc002ohr.2	O43291		ENST00000301244.7:c.580C>G	19.37:g.38781203C>G	ENSP00000301244:p.Leu194Val					SPINT2_uc002ohs.1_Missense_Mutation_p.L137V	p.L194V	NM_021102	NP_066925	O43291	SPIT2_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		6	911	+	all_cancers(60;6.83e-07)		194			Extracellular (Potential).		A8K667|B4DLU1|O00271|O14895|Q5TZQ3|Q969E0	Missense_Mutation	SNP	ENST00000301244.7	37	c.580C>G	CCDS12510.1	.	.	.	.	.	.	.	.	.	.	C	2.459	-0.324552	0.05350	.	.	ENSG00000167642	ENST00000301244;ENST00000454580	T;T	0.61040	0.48;0.14	4.57	2.22	0.28083	.	1.383840	0.04544	N	0.388728	T	0.44435	0.1293	L	0.29908	0.895	0.09310	N	0.999996	B;B	0.23937	0.057;0.094	B;B	0.16722	0.016;0.01	T	0.21484	-1.0244	10	0.13470	T	0.59	.	9.0289	0.36247	0.4429:0.5571:0.0:0.0	.	137;194	B4DLU1;O43291	.;SPIT2_HUMAN	V	194;137	ENSP00000301244:L194V;ENSP00000389788:L137V	ENSP00000301244:L194V	L	+	1	0	SPINT2	43473043	0.000000	0.05858	0.462000	0.27118	0.021000	0.10359	0.188000	0.17018	1.216000	0.43427	0.655000	0.94253	CTT		0.612	SPINT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458151.2			4	25	0	0	0	0	4	25				
FCGBP	8857	broad.mit.edu	37	19	40364331	40364331	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:40364331C>T	ENST00000221347.6	-	31	14318	c.14311G>A	c.(14311-14313)Gaa>Aaa	p.E4771K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4771	TIL 11.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACACAGCCTTCACGGCAGGCC	0.652																																						uc002omp.3		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(14311-14313)GAA>AAA		Fc fragment of IgG binding protein precursor							62.0	58.0	59.0					19																	40364331		2203	4299	6502	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40364331C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.14311G>A	19.37:g.40364331C>T	ENSP00000221347:p.Glu4771Lys						p.E4771K	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		31	14319	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4771			TIL 11.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.14311G>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857425	0.71834	.	.	ENSG00000090920	ENST00000221347	T	0.80480	-1.38	4.92	4.92	0.64577	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.000000	0.64402	U	0.000001	D	0.92169	0.7517	M	0.93197	3.39	0.48762	D	0.999706	D	0.89917	1.0	D	0.91635	0.999	D	0.93267	0.6648	10	0.48119	T	0.1	.	17.2407	0.87013	0.0:1.0:0.0:0.0	.	4771	Q9Y6R7	FCGBP_HUMAN	K	4771	ENSP00000221347:E4771K	ENSP00000221347:E4771K	E	-	1	0	FCGBP	45056171	1.000000	0.71417	0.230000	0.23976	0.550000	0.35303	7.818000	0.86416	2.449000	0.82847	0.313000	0.20887	GAA		0.652	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		10	71	0	0	0	0	10	71				
FCGBP	8857	broad.mit.edu	37	19	40366539	40366539	+	Silent	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:40366539C>T	ENST00000221347.6	-	30	13702	c.13695G>A	c.(13693-13695)caG>caA	p.Q4565Q		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4565	VWFD 11. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCGAGTCCAGCTGGAAAGGCA	0.677																																						uc002omp.3		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(13693-13695)CAG>CAA		Fc fragment of IgG binding protein precursor							24.0	26.0	25.0					19																	40366539		2200	4297	6497	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40366539C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.13695G>A	19.37:g.40366539C>T							p.Q4565Q	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		30	13703	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4565			VWFD 11.		O95784	Silent	SNP	ENST00000221347.6	37	c.13695G>A	CCDS12546.1																																																																																				0.677	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		10	60	0	0	0	0	10	60				
PLAUR	5329	broad.mit.edu	37	19	44160641	44160641	+	Silent	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:44160641T>C	ENST00000340093.3	-	4	691	c.462A>G	c.(460-462)gaA>gaG	p.E154E	PLAUR_ENST00000339082.3_Silent_p.E154E|PLAUR_ENST00000601723.1_Silent_p.E154E|PLAUR_ENST00000221264.4_Silent_p.E154E	NM_002659.3	NP_002650.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	154	UPAR/Ly6 2.				attachment of GPI anchor to protein (GO:0016255)|blood coagulation (GO:0007596)|C-terminal protein lipidation (GO:0006501)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chemotaxis (GO:0006935)|fibrinolysis (GO:0042730)|post-translational protein modification (GO:0043687)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|urokinase plasminogen activator signaling pathway (GO:0038195)	anchored component of membrane (GO:0031225)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)|urokinase plasminogen activator receptor activity (GO:0030377)			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CTTCTTCACCTTCCTGGATCC	0.577																																						uc002oxf.1		NA																	0				ovary(1)	1						c.(460-462)GAA>GAG		plasminogen activator, urokinase receptor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)						153.0	146.0	148.0					19																	44160641		2203	4300	6503	SO:0001819	synonymous_variant	5329				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity	g.chr19:44160641T>C		CCDS12628.1, CCDS33041.1, CCDS33042.1, CCDS74386.1	19q13	2012-03-15			ENSG00000011422	ENSG00000011422		"""CD molecules"""	9053	protein-coding gene	gene with protein product	"""urokinase-type plasminogen activator (uPA) receptor"", ""urokinase plasminogen activator surface receptor"""	173391					Standard	NM_002659		Approved	URKR, UPAR, CD87	uc002oxf.2	Q03405		ENST00000340093.3:c.462A>G	19.37:g.44160641T>C						PLAUR_uc002oxd.1_Silent_p.E154E|PLAUR_uc002oxe.1_Silent_p.E149E|PLAUR_uc002oxg.1_Silent_p.E154E	p.E154E	NM_002659	NP_002650	Q03405	UPAR_HUMAN			4	692	-		Prostate(69;0.0153)	154			UPAR/Ly6 2.		A8K409|Q12876|Q15845|Q16887|Q6IB52|Q9BWT0|Q9NYC8|Q9UD69|Q9UEA6|Q9UM92|Q9UMV0	Silent	SNP	ENST00000340093.3	37	c.462A>G	CCDS12628.1																																																																																				0.577	PLAUR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463571.1	NM_002659		23	119	0	0	0	0	23	119				
ZNF610	162963	broad.mit.edu	37	19	52852486	52852486	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:52852486C>G	ENST00000403906.3	+	3	517	c.61C>G	c.(61-63)Cag>Gag	p.Q21E	ZNF610_ENST00000327920.8_Missense_Mutation_p.Q21E|ZNF610_ENST00000321287.8_Missense_Mutation_p.Q21E|ZNF610_ENST00000601151.1_Missense_Mutation_p.Q21E	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	21					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		GGCTCTTCCTCAGGTAAAGTG	0.448																																						uc002pyx.3		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(61-63)CAG>GAG		zinc finger protein 610 isoform a							219.0	179.0	193.0					19																	52852486		2203	4300	6503	SO:0001583	missense	162963				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52852486C>G	AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"""Zinc fingers, C2H2-type"", ""-"""	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.61C>G	19.37:g.52852486C>G	ENSP00000383922:p.Gln21Glu					ZNF610_uc002pyy.3_Missense_Mutation_p.Q21E|ZNF610_uc002pyz.3_Missense_Mutation_p.Q21E|ZNF610_uc002pza.2_Missense_Mutation_p.Q21E	p.Q21E	NM_001161426	NP_001154898	Q8N9Z0	ZN610_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)	3	467	+			21					A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP	ENST00000403906.3	37	c.61C>G	CCDS12851.1	.	.	.	.	.	.	.	.	.	.	C	6.116	0.389580	0.11581	.	.	ENSG00000167554	ENST00000403906;ENST00000321287;ENST00000327920	T;T;T	0.00940	5.52;5.52;5.52	1.54	0.417	0.16421	Krueppel-associated box (1);	.	.	.	.	T	0.01092	0.0036	L	0.60067	1.865	0.09310	N	1	P;B	0.35481	0.504;0.37	B;B	0.29716	0.106;0.066	T	0.45469	-0.9259	9	0.49607	T	0.09	.	4.9106	0.13820	0.3576:0.6424:0.0:0.0	.	21;21	Q8N9Z0-2;Q8N9Z0	.;ZN610_HUMAN	E	21	ENSP00000383922:Q21E;ENSP00000324441:Q21E;ENSP00000327597:Q21E	ENSP00000324441:Q21E	Q	+	1	0	ZNF610	57544298	0.420000	0.25457	0.070000	0.20053	0.021000	0.10359	0.407000	0.21049	0.204000	0.20548	0.561000	0.74099	CAG		0.448	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530		6	34	0	0	0	0	6	34				
NCR1	9437	broad.mit.edu	37	19	55421380	55421380	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:55421380G>A	ENST00000291890.4	+	5	675	c.637G>A	c.(637-639)Gac>Aac	p.D213N	NCR1_ENST00000594765.1_Missense_Mutation_p.D213N|NCR1_ENST00000357397.5_Missense_Mutation_p.D106N|NCR1_ENST00000350790.5_Missense_Mutation_p.D118N|NCR1_ENST00000338835.5_Missense_Mutation_p.D213N|NCR1_ENST00000598576.1_Missense_Mutation_p.D201N|NCR1_ENST00000447255.1_Missense_Mutation_p.D213N	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	213					cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		TTTTCCAGGCGACATTGAGAA	0.438																																						uc002qib.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(637-639)GAC>AAC		natural cytotoxicity triggering receptor 1							178.0	180.0	179.0					19																	55421380		2203	4300	6503	SO:0001583	missense	9437				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	g.chr19:55421380G>A	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.637G>A	19.37:g.55421380G>A	ENSP00000291890:p.Asp213Asn					NCR1_uc002qic.2_Missense_Mutation_p.D213N|NCR1_uc002qie.2_Missense_Mutation_p.D213N|NCR1_uc002qid.2_Missense_Mutation_p.D118N|NCR1_uc002qif.2_Missense_Mutation_p.D118N|NCR1_uc010esj.2_Missense_Mutation_p.D106N	p.D213N	NM_004829	NP_004820	O76036	NCTR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0449)	5	675	+			213			Extracellular (Potential).		B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	ENST00000291890.4	37	c.637G>A	CCDS12911.1	.	.	.	.	.	.	.	.	.	.	G	8.953	0.968608	0.18659	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835;ENST00000350790;ENST00000357397	T;T;T;T;T	0.00531	7.05;7.08;7.13;7.02;6.76	3.19	2.11	0.27256	.	3.502750	0.01069	N	0.004787	T	0.00695	0.0023	L	0.57536	1.79	0.09310	N	1	D;P;P;D;B;B	0.54601	0.964;0.878;0.776;0.967;0.128;0.041	P;B;B;B;B;B	0.45856	0.495;0.125;0.109;0.288;0.065;0.029	T	0.54840	-0.8233	10	0.17369	T	0.5	.	7.3682	0.26785	0.0:0.0:0.6871:0.3129	.	106;118;213;118;213;213	O76036-5;B0V3L4;B0V3L5;B0V3L2;O76036-6;O76036	.;.;.;.;.;NCTR1_HUMAN	N	213;213;213;118;106	ENSP00000291890:D213N;ENSP00000404434:D213N;ENSP00000339515:D213N;ENSP00000344358:D118N;ENSP00000349972:D106N	ENSP00000291890:D213N	D	+	1	0	NCR1	60113192	0.002000	0.14202	0.004000	0.12327	0.018000	0.09664	0.750000	0.26334	0.834000	0.34852	0.579000	0.79373	GAC		0.438	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1			23	169	0	0	0	0	23	169				
EPN1	29924	broad.mit.edu	37	19	56204351	56204351	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr19:56204351C>A	ENST00000270460.6	+	9	1523	c.1212C>A	c.(1210-1212)ttC>ttA	p.F404L	EPN1_ENST00000085079.7_Missense_Mutation_p.F378L|EPN1_ENST00000411543.2_Missense_Mutation_p.F490L|AC010525.6_ENST00000587937.1_lincRNA|AC010525.4_ENST00000585559.1_RNA	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	404	Ala/Gly/Pro-rich.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CCGACGAGTTCTCTGACTTTG	0.701																																						uc002qlw.2		NA																	0					0						c.(1210-1212)TTC>TTA		epsin 1 isoform b							73.0	90.0	84.0					19																	56204351		2091	4211	6302	SO:0001583	missense	29924				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding	g.chr19:56204351C>A	AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.1212C>A	19.37:g.56204351C>A	ENSP00000270460:p.Phe404Leu					EPN1_uc002qlv.2_Missense_Mutation_p.F378L|EPN1_uc010etd.2_Missense_Mutation_p.F403L|EPN1_uc002qlx.2_Missense_Mutation_p.F490L	p.F404L	NM_001130072	NP_001123544	Q9Y6I3	EPN1_HUMAN		GBM - Glioblastoma multiforme(193;0.112)	9	1554	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	404	F->A: Reduces interaction with AP2B1.		[DE]-X(1,2)-F-X-X-[FL]-X-X-X-R motif.|Ala/Gly/Pro-rich.		Q86ST3|Q9HA18	Missense_Mutation	SNP	ENST00000270460.6	37	c.1212C>A	CCDS46199.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.414657	0.42817	.	.	ENSG00000063245	ENST00000270460;ENST00000085079;ENST00000544375;ENST00000411543	T;T;T	0.15487	2.53;2.46;2.42	3.93	2.89	0.33648	.	1.031410	0.07646	N	0.931123	T	0.12518	0.0304	L	0.38838	1.175	0.30107	N	0.806927	B;B;B;B	0.30146	0.006;0.27;0.006;0.01	B;B;B;B	0.25291	0.004;0.059;0.004;0.01	T	0.24870	-1.0148	10	0.09843	T	0.71	-17.9237	8.9949	0.36045	0.0:0.8916:0.0:0.1084	.	364;490;404;378	B4DU91;Q9Y6I3-1;Q9Y6I3;Q9Y6I3-3	.;.;EPN1_HUMAN;.	L	404;378;364;490	ENSP00000270460:F404L;ENSP00000085079:F378L;ENSP00000406209:F490L	ENSP00000085079:F378L	F	+	3	2	EPN1	60896163	1.000000	0.71417	0.992000	0.48379	0.656000	0.38851	1.599000	0.36751	1.008000	0.39264	0.462000	0.41574	TTC		0.701	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453610.1	NM_013333		13	117	1	0	4.38e-07	7.69e-07	13	117				
ALMS1	7840	broad.mit.edu	37	2	73828456	73828456	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr2:73828456G>A	ENST00000264448.6	+	19	12115	c.12004G>A	c.(12004-12006)Gag>Aag	p.E4002K	ALMS1_ENST00000464408.2_3'UTR|ALMS1_ENST00000409009.1_Missense_Mutation_p.E3960K	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4002					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GCCACTGCGGGAGCAGAACTG	0.582																																						uc002sje.1		NA																	0				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(12010-12012)GAG>AAG		Alstrom syndrome 1							70.0	81.0	78.0					2																	73828456		2194	4294	6488	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73828456G>A	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.12004G>A	2.37:g.73828456G>A	ENSP00000264448:p.Glu4002Lys					ALMS1_uc002sjf.1_Missense_Mutation_p.E3960K|ALMS1_uc002sjh.1_Missense_Mutation_p.E3390K	p.E4004K	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			21	12121	+			4002					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.12010G>A	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	32	5.164505	0.94727	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.13657	2.57;2.57	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000011	T	0.31544	0.0800	L	0.46157	1.445	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.80764	0.986;0.994	T	0.00958	-1.1500	10	0.87932	D	0	.	16.2168	0.82237	0.0:0.0:1.0:0.0	.	3960;4002	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	K	3960;4002	ENSP00000386627:E3960K;ENSP00000264448:E4002K	ENSP00000264448:E4002K	E	+	1	0	ALMS1	73681964	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	6.756000	0.74919	2.701000	0.92244	0.561000	0.74099	GAG		0.582	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		18	106	0	0	0	0	18	106				
PROM2	150696	broad.mit.edu	37	2	95941259	95941259	+	Splice_Site	SNP	G	G	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr2:95941259G>T	ENST00000317620.9	+	2	427		c.e2+1		PROM2_ENST00000317668.4_Splice_Site|PROM2_ENST00000542147.1_Splice_Site|PROM2_ENST00000403131.2_Splice_Site|PROM2_ENST00000463580.1_Intron	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2						negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GGTGAATGAGGTGAGCAAGCT	0.602																																						uc002suh.1		NA																	0				ovary(1)	1						c.e2+1		prominin 2 precursor							85.0	75.0	78.0					2																	95941259		2203	4300	6503	SO:0001630	splice_region_variant	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95941259G>T	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.294+1G>T	2.37:g.95941259G>T						PROM2_uc002sui.2_Splice_Site_p.E98_splice|PROM2_uc002suj.2_Splice_Site|PROM2_uc002suk.2_Splice_Site_p.E98_splice|PROM2_uc002sul.2_Splice_Site	p.E98_splice	NM_144707	NP_653308	Q8N271	PROM2_HUMAN			2	427	+								A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Splice_Site	SNP	ENST00000317620.9	37	c.294_splice	CCDS2012.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466200	0.43839	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	.	.	.	4.42	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2429	0.60008	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PROM2	95304986	1.000000	0.71417	1.000000	0.80357	0.621000	0.37620	2.671000	0.46842	2.380000	0.81148	0.462000	0.41574	.		0.602	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707	Intron	5	45	1	0	0.00116845	0.00196211	5	45				
PSD4	23550	broad.mit.edu	37	2	113943603	113943603	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr2:113943603G>C	ENST00000245796.6	+	5	1594	c.1399G>C	c.(1399-1401)Gag>Cag	p.E467Q	PSD4_ENST00000441564.3_Missense_Mutation_p.E439Q	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	467					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATCGTCCCAGGAGGGCAGCCC	0.617																																						uc002tjc.2		NA																	0				ovary(2)	2						c.(1399-1401)GAG>CAG		pleckstrin and Sec7 domain containing 4							53.0	52.0	53.0					2																	113943603		2203	4300	6503	SO:0001583	missense	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113943603G>C	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.1399G>C	2.37:g.113943603G>C	ENSP00000245796:p.Glu467Gln					PSD4_uc002tjd.2_Missense_Mutation_p.E88Q|PSD4_uc002tje.2_Missense_Mutation_p.E438Q|PSD4_uc002tjf.2_Missense_Mutation_p.E88Q	p.E467Q	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN			5	1582	+			467					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.1399G>C	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.760547	0.49468	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.10382	2.89;2.88	5.32	4.41	0.53225	.	0.153021	0.39407	N	0.001366	T	0.15349	0.0370	L	0.29908	0.895	0.80722	D	1	P;D;D	0.61080	0.952;0.989;0.982	P;P;P	0.55455	0.521;0.776;0.601	T	0.01935	-1.1244	10	0.45353	T	0.12	.	11.6228	0.51128	0.0:0.1788:0.8212:0.0	.	125;439;467	Q59HG0;Q8NDX1-2;Q8NDX1	.;.;PSD4_HUMAN	Q	467;439	ENSP00000245796:E467Q;ENSP00000413997:E439Q	ENSP00000245796:E467Q	E	+	1	0	PSD4	113660074	0.983000	0.35010	0.832000	0.32986	0.894000	0.52154	1.763000	0.38461	1.417000	0.47077	0.563000	0.77884	GAG		0.617	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		8	59	0	0	0	0	8	59				
TMEM177	80775	broad.mit.edu	37	2	120439337	120439337	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr2:120439337G>C	ENST00000424086.1	+	2	1381	c.908G>C	c.(907-909)aGg>aCg	p.R303T	TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000401466.1_Missense_Mutation_p.R303T|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000272521.6_Missense_Mutation_p.R303T	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	303						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CAGATGTGGAGGGGGATGCTC	0.577																																						uc010flg.1		NA																	0				ovary(1)	1						c.(907-909)AGG>ACG		transmembrane protein 177							52.0	56.0	54.0					2																	120439337		2202	4300	6502	SO:0001583	missense	80775					integral to membrane		g.chr2:120439337G>C	BC004404	CCDS2128.1	2q14.2	2008-02-05			ENSG00000144120	ENSG00000144120			28143	protein-coding gene	gene with protein product						12477932	Standard	NM_001105198		Approved	MGC10993	uc002tmc.1	Q53S58	OTTHUMG00000153312	ENST00000424086.1:c.908G>C	2.37:g.120439337G>C	ENSP00000402661:p.Arg303Thr					TMEM177_uc002tme.2_Intron|TMEM177_uc002tmc.1_Missense_Mutation_p.R303T|TMEM177_uc002tmd.2_Missense_Mutation_p.R303T|TMEM177_uc010flh.2_Intron	p.R303T	NM_001105198	NP_001098668	Q53S58	TM177_HUMAN			2	1381	+	Colorectal(110;0.196)		303					Q9BT20	Missense_Mutation	SNP	ENST00000424086.1	37	c.908G>C	CCDS2128.1	.	.	.	.	.	.	.	.	.	.	G	6.850	0.526156	0.13066	.	.	ENSG00000144120	ENST00000401466;ENST00000424086;ENST00000272521;ENST00000415646	T;T;T	0.26067	1.76;1.76;1.76	4.44	1.62	0.23740	.	0.293504	0.36268	N	0.002689	T	0.26122	0.0637	M	0.70595	2.14	0.24838	N	0.992482	P	0.40731	0.728	B	0.41174	0.349	T	0.14062	-1.0486	10	0.62326	D	0.03	-9.6725	5.42	0.16396	0.3521:0.0:0.6479:0.0	.	303	Q53S58	TM177_HUMAN	T	303;303;303;242	ENSP00000385966:R303T;ENSP00000402661:R303T;ENSP00000272521:R303T	ENSP00000272521:R303T	R	+	2	0	TMEM177	120155807	0.869000	0.29996	0.346000	0.25655	0.078000	0.17371	0.738000	0.26158	0.586000	0.29626	0.549000	0.68633	AGG		0.577	TMEM177-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330673.1	NM_030577		9	80	0	0	0	0	9	80				
SCN1A	6323	broad.mit.edu	37	2	166854606	166854606	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr2:166854606A>G	ENST00000303395.4	-	23	4417	c.4418T>C	c.(4417-4419)tTc>tCc	p.F1473S	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.F1445S|SCN1A_ENST00000375405.3_Missense_Mutation_p.F1462S|SCN1A_ENST00000423058.2_Missense_Mutation_p.F1473S			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1473					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTTCAAGGTGAAGAAGGACCC	0.343																																						uc010zcz.1		NA																	0				ovary(6)|skin(6)|large_intestine(1)	13						c.(4384-4386)TTC>TCC		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						89.0	80.0	83.0					2																	166854606		2203	4293	6496	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166854606A>G	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4418T>C	2.37:g.166854606A>G	ENSP00000303540:p.Phe1473Ser					SCN1A_uc002udo.3_Missense_Mutation_p.F1342S|SCN1A_uc010fpk.2_Missense_Mutation_p.F1314S	p.F1462S	NM_006920	NP_008851	P35498	SCN1A_HUMAN			23	4403	-			1473			Helical; Name=S6 of repeat III; (By similarity).|III.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.4385T>C	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.627510	0.87560	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98649	-5.05;-5.05;-5.05;-5.05	5.03	5.03	0.67393	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99456	0.9807	H	0.97758	4.07	0.58432	D	0.999999	D;D;D	0.89917	0.964;0.999;1.0	P;D;D	0.97110	0.727;0.997;1.0	D	0.98185	1.0459	10	0.87932	D	0	.	14.7452	0.69485	1.0:0.0:0.0:0.0	.	1462;1445;1473	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	S	1473;1473;1462;1445	ENSP00000407030:F1473S;ENSP00000303540:F1473S;ENSP00000364554:F1462S;ENSP00000386312:F1445S	ENSP00000303540:F1473S	F	-	2	0	SCN1A	166562852	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.204000	0.95041	1.886000	0.54624	0.383000	0.25322	TTC		0.343	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		4	39	0	0	0	0	4	39				
TTC30A	92104	broad.mit.edu	37	2	178481760	178481760	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr2:178481760T>C	ENST00000355689.5	-	1	1934	c.1670A>G	c.(1669-1671)aAa>aGa	p.K557R	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	557					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			ATAGTTTCCTTTGGCACAATA	0.383																																						uc002ulo.2		NA																	0					0						c.(1669-1671)AAA>AGA		tetratricopeptide repeat domain 30A							178.0	189.0	185.0					2																	178481760		2203	4300	6503	SO:0001583	missense	92104				cell projection organization	cilium	binding	g.chr2:178481760T>C	AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"""Tetratricopeptide (TTC) repeat domain containing"""	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.1670A>G	2.37:g.178481760T>C	ENSP00000347915:p.Lys557Arg						p.K557R	NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)		1	1935	-			557			TPR 8.		A8K8N0|Q8IVP2	Missense_Mutation	SNP	ENST00000355689.5	37	c.1670A>G	CCDS2276.1	.	.	.	.	.	.	.	.	.	.	T	18.84	3.710168	0.68730	.	.	ENSG00000197557	ENST00000355689;ENST00000545660	T	0.25749	1.78	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.56702	0.2003	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61093	-0.7132	10	0.51188	T	0.08	.	16.4323	0.83853	0.0:0.0:0.0:1.0	.	557	Q86WT1	TT30A_HUMAN	R	557;18	ENSP00000347915:K557R	ENSP00000347915:K557R	K	-	2	0	TTC30A	178190006	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.322000	0.79097	2.282000	0.76494	0.529000	0.55759	AAA		0.383	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	NM_152275		4	242	0	0	0	0	4	242				
TTN	7273	broad.mit.edu	37	2	179440094	179440094	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr2:179440094C>G	ENST00000591111.1	-	276	66066	c.65842G>C	c.(65842-65844)Gaa>Caa	p.E21948Q	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E14524Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E14649Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E14716Q|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E23589Q|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E21021Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21948	Fibronectin type-III 59. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAACACATTCTAACCCTTTC	0.507																																						uc010zfg.1		NA																	0				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.(63061-63063)GAA>CAA		titin isoform N2-A							97.0	95.0	96.0					2																	179440094		2002	4173	6175	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179440094C>G	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.65842G>C	2.37:g.179440094C>G	ENSP00000465570:p.Glu21948Gln					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E14716Q|TTN_uc010zfi.1_Missense_Mutation_p.E14649Q|TTN_uc010zfj.1_Missense_Mutation_p.E14524Q	p.E21021Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	63285	-			21948					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.63061G>C		.	.	.	.	.	.	.	.	.	.	C	14.31	2.497628	0.44455	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.6	5.6	0.85130	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58666	0.2138	L	0.48260	1.515	0.53005	D	0.999969	P;P;P;P	0.51449	0.945;0.945;0.945;0.914	P;P;P;P	0.49047	0.52;0.52;0.52;0.599	T	0.62048	-0.6936	9	0.87932	D	0	.	19.612	0.95610	0.0:1.0:0.0:0.0	.	14524;14649;14716;21948	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	21021;14524;14716;14649;14522	ENSP00000343764:E21021Q;ENSP00000434586:E14524Q;ENSP00000340554:E14716Q;ENSP00000352154:E14649Q	ENSP00000340554:E14716Q	E	-	1	0	TTN	179148340	1.000000	0.71417	0.977000	0.42913	0.997000	0.91878	7.818000	0.86416	2.651000	0.90000	0.585000	0.79938	GAA		0.507	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	67	0	0	0	0	11	67				
CWC22	57703	broad.mit.edu	37	2	180838488	180838488	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr2:180838488G>A	ENST00000410053.3	-	7	922	c.623C>T	c.(622-624)tCt>tTt	p.S208F	CWC22_ENST00000295749.6_Missense_Mutation_p.S208F	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	208	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.				mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						GAAGATTGGAGAAGCACTCTG	0.328																																						uc010frh.1		NA																	0					0						c.(622-624)TCT>TTT		CWC22 spliceosome-associated protein homolog							72.0	66.0	68.0					2																	180838488		1836	4094	5930	SO:0001583	missense	57703					catalytic step 2 spliceosome	protein binding|RNA binding	g.chr2:180838488G>A		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.623C>T	2.37:g.180838488G>A	ENSP00000387006:p.Ser208Phe					CWC22_uc002unp.2_Missense_Mutation_p.S208F	p.S208F	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN			7	923	-			208			MIF4G.		Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	ENST00000410053.3	37	c.623C>T	CCDS46465.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.739725	0.89573	.	.	ENSG00000163510	ENST00000410053;ENST00000295749;ENST00000404136	T;T;T	0.24723	1.84;1.84;1.84	5.52	5.52	0.82312	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.63034	0.2477	H	0.95224	3.64	0.80722	D	1	D	0.59357	0.985	P	0.62184	0.899	T	0.75274	-0.3375	10	0.87932	D	0	-8.0984	18.4179	0.90576	0.0:0.0:1.0:0.0	.	208	Q9HCG8	CWC22_HUMAN	F	208	ENSP00000387006:S208F;ENSP00000295749:S208F;ENSP00000384159:S208F	ENSP00000295749:S208F	S	-	2	0	CWC22	180546733	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.650000	0.98490	2.589000	0.87451	0.650000	0.86243	TCT		0.328	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943		7	50	0	0	0	0	7	50				
SLC4A3	6508	broad.mit.edu	37	2	220496825	220496825	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr2:220496825G>A	ENST00000358055.3	+	7	1459	c.947G>A	c.(946-948)cGg>cAg	p.R316Q	SLC4A3_ENST00000373762.3_Missense_Mutation_p.R343Q|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R316Q|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R343Q|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R316Q			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	316					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)	p.R343Q(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGCTGGACCGGAGGCCTCAT	0.652																																						uc002vmp.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5						c.(946-948)CGG>CAG		solute carrier family 4, anion exchanger, member							26.0	31.0	30.0					2																	220496825		2197	4297	6494	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220496825G>A		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.947G>A	2.37:g.220496825G>A	ENSP00000350756:p.Arg316Gln					SLC4A3_uc002vmn.2_Missense_Mutation_p.R343Q|SLC4A3_uc002vmo.3_Missense_Mutation_p.R343Q|SLC4A3_uc010fwm.2_5'UTR|SLC4A3_uc010fwn.1_5'UTR	p.R316Q	NM_005070	NP_005061	P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	1216	+		Renal(207;0.0183)	316			Cytoplasmic.		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.947G>A	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569750	0.86439	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151;ENST00000413743	T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7	4.43	4.43	0.53597	.	0.141390	0.45867	D	0.000327	T	0.51227	0.1662	L	0.35854	1.095	0.38534	D	0.949048	D;D	0.64830	0.994;0.988	P;P	0.54372	0.707;0.75	T	0.58487	-0.7628	10	0.59425	D	0.04	.	15.0118	0.71555	0.0:0.0:1.0:0.0	.	316;343	P48751;P48751-3	B3A3_HUMAN;.	Q	316;316;343;343;316;118	ENSP00000350756:R316Q;ENSP00000362865:R316Q;ENSP00000273063:R343Q;ENSP00000362867:R343Q;ENSP00000314006:R316Q;ENSP00000414722:R118Q	ENSP00000273063:R343Q	R	+	2	0	SLC4A3	220205069	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	5.568000	0.67385	2.291000	0.77112	0.561000	0.74099	CGG		0.652	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		4	54	0	0	0	0	4	54				
UGT1A6	54578	broad.mit.edu	37	2	234602064	234602064	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr2:234602064C>G	ENST00000305139.6	+	1	553	c.414C>G	c.(412-414)ttC>ttG	p.F138L	UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|AC114812.8_ENST00000439336.1_RNA|UGT1A6_ENST00000406651.1_5'Flank|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000480628.1_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	138					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	CCCTGAACTTCTTTAAGGAGA	0.488																																						uc002vuv.3		NA																	0					0						c.(412-414)TTC>TTG		UDP glycosyltransferase 1 family, polypeptide A6							105.0	86.0	92.0					2																	234602064		2203	4300	6503	SO:0001583	missense	54578				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr2:234602064C>G	M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.414C>G	2.37:g.234602064C>G	ENSP00000303174:p.Phe138Leu					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Missense_Mutation_p.F138L	p.F138L	NM_001072	NP_001063	P19224	UD16_HUMAN		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	1	553	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)	138					A6NKK6|B8K289|Q96TE7	Missense_Mutation	SNP	ENST00000305139.6	37	c.414C>G	CCDS2507.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.744077	0.30865	.	.	ENSG00000167165	ENST00000441351;ENST00000305139	T;T	0.04502	3.61;3.61	5.31	5.31	0.75309	.	.	.	.	.	T	0.05868	0.0153	L	0.28504	0.86	0.80722	D	1	B;B	0.23937	0.094;0.048	B;B	0.29267	0.083;0.1	T	0.39941	-0.9589	9	0.46703	T	0.11	.	14.4596	0.67440	0.0:0.9278:0.0:0.0722	.	138;138	B8K289;P19224	.;UD16_HUMAN	L	138	ENSP00000389637:F138L;ENSP00000303174:F138L	ENSP00000303174:F138L	F	+	3	2	UGT1A6	234266803	0.000000	0.05858	0.989000	0.46669	0.446000	0.32137	-0.117000	0.10708	2.758000	0.94735	0.655000	0.94253	TTC		0.488	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862		10	73	0	0	0	0	10	73				
PSMF1	9491	broad.mit.edu	37	20	1115772	1115772	+	Missense_Mutation	SNP	A	A	G	rs377313597		TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr20:1115772A>G	ENST00000335877.6	+	4	550	c.374A>G	c.(373-375)aAg>aGg	p.K125R	PSMF1_ENST00000333082.3_Missense_Mutation_p.K125R|PSMF1_ENST00000381898.4_Missense_Mutation_p.K37R|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000246015.4_Missense_Mutation_p.K125R|PSMF1_ENST00000438768.2_Intron	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	125	Important for homodimerization and interaction with FBXO7.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						AGGACCTACAAGAACAGTGAG	0.552																																						uc002wel.3		NA																	0					0						c.(373-375)AAG>AGG		proteasome inhibitor subunit 1		A	ARG/LYS,ARG/LYS	0,4406		0,0,2203	109.0	95.0	99.0		374,374	1.7	1.0	20		99	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PSMF1	NM_178578.2,NM_006814.3	26,26	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign,benign	125/272,125/272	1115772	1,13005	2203	4300	6503	SO:0001583	missense	9491				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding	g.chr20:1115772A>G	D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"""Proteasome (prosome, macropain) subunits"""	9571	protein-coding gene	gene with protein product	"""proteasome inhibitor hP131 subunit"""					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.374A>G	20.37:g.1115772A>G	ENSP00000338039:p.Lys125Arg					PSMF1_uc010zpo.1_Missense_Mutation_p.K37R|PSMF1_uc002wem.3_Missense_Mutation_p.K125R|PSMF1_uc010zpp.1_Intron|PSMF1_uc002wen.3_Missense_Mutation_p.K125R|PSMF1_uc002wep.3_Missense_Mutation_p.K76R	p.K125R	NM_178578	NP_848693	Q92530	PSMF1_HUMAN			5	542	+			125					A0AVQ9|D3DVW3|Q9H4I1	Missense_Mutation	SNP	ENST00000335877.6	37	c.374A>G	CCDS13010.1	.	.	.	.	.	.	.	.	.	.	A	13.43	2.235126	0.39498	0.0	1.16E-4	ENSG00000125818	ENST00000333082;ENST00000381898;ENST00000381899;ENST00000454500;ENST00000246015;ENST00000335877	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	5.22	1.71	0.24356	.	0.178331	0.48286	N	0.000199	T	0.42517	0.1206	M	0.68593	2.085	0.33745	D	0.619912	B;B;B;B	0.19200	0.001;0.006;0.034;0.015	B;B;B;B	0.25614	0.004;0.013;0.062;0.029	T	0.44436	-0.9328	10	0.33141	T	0.24	-5.7704	7.7617	0.28957	0.7615:0.0:0.2385:0.0	.	37;37;125;125	F5H4Z3;B4DUJ0;Q5QPM7;Q92530	.;.;.;PSMF1_HUMAN	R	125;37;125;37;125;125	ENSP00000327704:K125R;ENSP00000371323:K37R;ENSP00000371324:K125R;ENSP00000246015:K125R;ENSP00000338039:K125R	ENSP00000246015:K125R	K	+	2	0	PSMF1	1063772	1.000000	0.71417	0.989000	0.46669	0.885000	0.51271	2.838000	0.48199	0.106000	0.17784	0.528000	0.53228	AAG		0.552	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077504.2	NM_178578		7	55	0	0	0	0	7	55				
BPIFB2	80341	broad.mit.edu	37	20	31608358	31608358	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr20:31608358C>A	ENST00000170150.3	+	13	1354	c.1159C>A	c.(1159-1161)Ctc>Atc	p.L387I		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	387						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										GGATGTCCAGCTCACGGTGGC	0.617																																						uc002wyj.2		NA																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(1159-1161)CTC>ATC		bactericidal/permeability-increasing							187.0	145.0	159.0					20																	31608358		2203	4300	6503	SO:0001583	missense	80341					extracellular region	lipid binding	g.chr20:31608358C>A	AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"""BPI fold containing"""	16177	protein-coding gene	gene with protein product		614108	"""bactericidal/permeability-increasing protein-like 1"""	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.1159C>A	20.37:g.31608358C>A	ENSP00000170150:p.Leu387Ile						p.L387I	NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN			13	1353	+			387					Q6UWN3|Q6ZME0|Q8NFQ7	Missense_Mutation	SNP	ENST00000170150.3	37	c.1159C>A	CCDS13210.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.947623	0.34377	.	.	ENSG00000078898	ENST00000170150	T	0.08984	3.03	5.46	-4.54	0.03452	.	0.465282	0.18271	N	0.146330	T	0.06280	0.0162	L	0.53617	1.68	0.09310	N	0.99999	B	0.20052	0.041	B	0.21151	0.033	T	0.27020	-1.0086	10	0.49607	T	0.09	-5.1461	3.178	0.06575	0.3643:0.1853:0.3599:0.0904	.	387	Q8N4F0	BPIB2_HUMAN	I	387	ENSP00000170150:L387I	ENSP00000170150:L387I	L	+	1	0	BPIFB2	31072019	0.007000	0.16637	0.020000	0.16555	0.029000	0.11900	-1.128000	0.03247	-0.499000	0.06623	-0.165000	0.13383	CTC		0.617	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227		9	93	1	0	0.000673444	0.00113894	9	93				
PPP1R16B	26051	broad.mit.edu	37	20	37524339	37524339	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr20:37524339G>C	ENST00000299824.1	+	4	642	c.453G>C	c.(451-453)aaG>aaC	p.K151N	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.K151N	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	151					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				ACCTGGTGAAGATCCTCGTTC	0.577																																						uc002xje.2		NA																	0				upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3						c.(451-453)AAG>AAC		protein phosphatase 1 regulatory inhibitor							177.0	122.0	140.0					20																	37524339		2203	4300	6503	SO:0001583	missense	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37524339G>C	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.453G>C	20.37:g.37524339G>C	ENSP00000299824:p.Lys151Asn					PPP1R16B_uc010ggc.2_Missense_Mutation_p.K151N	p.K151N	NM_015568	NP_056383	Q96T49	PP16B_HUMAN			4	642	+		Myeloproliferative disorder(115;0.00878)	151			ANK 2.		A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	c.453G>C	CCDS13309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	14.16|14.16	2.452196|2.452196	0.43531|0.43531	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000299824;ENST00000373331|ENST00000438192	T;T|.	0.69306|.	-0.39;-0.39|.	3.85|3.85	-0.422|-0.422	0.12329|0.12329	Ankyrin repeat-containing domain (4);|.	0.143965|.	0.44688|.	D|.	0.000437|.	T|T	0.47414|0.47414	0.1444|0.1444	L|L	0.38531|0.38531	1.155|1.155	0.47183|0.47183	D|D	0.999348|0.999348	B;B|.	0.30361|.	0.277;0.277|.	B;B|.	0.37943|.	0.261;0.261|.	T|T	0.27157|0.27157	-1.0082|-1.0082	10|5	0.66056|.	D|.	0.02|.	.|.	6.7742|6.7742	0.23611|0.23611	0.3265:0.1227:0.5508:0.0|0.3265:0.1227:0.5508:0.0	.|.	151;151|.	E9PFS8;Q96T49|.	.;PP16B_HUMAN|.	N|T	151|94	ENSP00000299824:K151N;ENSP00000362428:K151N|.	ENSP00000299824:K151N|.	K|R	+|+	3|2	2|0	PPP1R16B|PPP1R16B	36957753|36957753	0.948000|0.948000	0.32251|0.32251	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	0.021000|0.021000	0.13489|0.13489	0.071000|0.071000	0.16664|0.16664	0.632000|0.632000	0.83419|0.83419	AAG|AGA		0.577	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		5	25	0	0	0	0	5	25				
ZNF512B	57473	broad.mit.edu	37	20	62597525	62597525	+	Missense_Mutation	SNP	G	G	A	rs371234637		TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr20:62597525G>A	ENST00000450537.1	-	5	1063	c.1003C>T	c.(1003-1005)Cgt>Tgt	p.R335C	ZNF512B_ENST00000217130.3_Missense_Mutation_p.R335C|ZNF512B_ENST00000369888.1_Missense_Mutation_p.R335C			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCTGTGGCACGAGGTGCTTTG	0.582																																						uc002yhl.1		NA																	0					0						c.(1003-1005)CGT>TGT		zinc finger protein 512B		G	CYS/ARG	2,4402	6.2+/-15.9	0,2,2200	76.0	72.0	73.0		1003	4.4	0.1	20		73	0,8600		0,0,4300	no	missense	ZNF512B	NM_020713.1	180	0,2,6500	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	335/893	62597525	2,13002	2202	4300	6502	SO:0001583	missense	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62597525G>A	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.1003C>T	20.37:g.62597525G>A	ENSP00000393795:p.Arg335Cys						p.R335C	NM_020713	NP_065764	Q96KM6	Z512B_HUMAN			5	1057	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		335					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.1003C>T	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.551719	0.27739	4.54E-4	0.0	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.26810	1.71;1.71;1.71	5.43	4.42	0.53409	.	0.669254	0.14337	N	0.325977	T	0.34832	0.0911	L	0.47716	1.5	0.09310	N	0.999999	D	0.76494	0.999	P	0.54924	0.764	T	0.11227	-1.0596	10	0.87932	D	0	-18.6947	10.2751	0.43506	0.0:0.0:0.6755:0.3245	.	335	Q96KM6	Z512B_HUMAN	C	335	ENSP00000358904:R335C;ENSP00000393795:R335C;ENSP00000217130:R335C	ENSP00000217130:R335C	R	-	1	0	ZNF512B	62067969	0.026000	0.19158	0.119000	0.21687	0.022000	0.10575	2.040000	0.41203	2.532000	0.85374	0.585000	0.79938	CGT		0.582	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		9	62	0	0	0	0	9	62				
CHEK2	11200	broad.mit.edu	37	22	29121060	29121060	+	Missense_Mutation	SNP	T	T	C	rs587782413		TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:29121060T>C	ENST00000405598.1	-	5	688	c.497A>G	c.(496-498)aAt>aGt	p.N166S	CHEK2_ENST00000348295.3_Missense_Mutation_p.N166S|CHEK2_ENST00000382578.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.N209S|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.N166S|CHEK2_ENST00000404276.1_Missense_Mutation_p.N166S|CHEK2_ENST00000403642.1_Intron|CHEK2_ENST00000402731.1_Missense_Mutation_p.N166S|CHEK2_ENST00000382566.1_Missense_Mutation_p.N166S|CHEK2_ENST00000382565.1_Intron			O96017	CHK2_HUMAN	checkpoint kinase 2	166	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						AAAGGTTCCATTGCCACTGTG	0.353			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														uc003adu.1		NA	yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast 			0				central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						c.(496-498)AAT>AGT	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	protein kinase CHK2 isoform a							102.0	101.0	102.0					22																	29121060		2202	4300	6502	SO:0001583	missense	11200	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer			cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29121060T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.497A>G	22.37:g.29121060T>C	ENSP00000386087:p.Asn166Ser					CHEK2_uc003ads.1_Intron|CHEK2_uc010gvh.1_Intron|CHEK2_uc010gvi.1_Missense_Mutation_p.N166S|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.N209S|CHEK2_uc003adv.1_Missense_Mutation_p.N166S|CHEK2_uc003adw.1_Missense_Mutation_p.N166S|CHEK2_uc003adx.1_5'UTR|CHEK2_uc003ady.1_Missense_Mutation_p.N166S|CHEK2_uc003adz.1_Intron	p.N166S	NM_007194	NP_009125	O96017	CHK2_HUMAN			4	569	-			166			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.497A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.473729	0.84640	.	.	ENSG00000183765	ENST00000348295;ENST00000382566;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000402731;ENST00000439200	D;D;D;D;D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48;-3.48;-3.48;-3.48;-3.48	5.87	5.87	0.94306	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	D	0.98261	0.9424	H	0.96996	3.92	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.998;1.0;0.997	D	0.99585	1.0974	10	0.87932	D	0	-9.9233	15.4548	0.75305	0.0:0.0:0.0:1.0	.	166;166;166;166;209	O96017-7;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;CHK2_HUMAN;.	S	166;166;166;166;166;209;166;197	ENSP00000329012:N166S;ENSP00000372007:N166S;ENSP00000329178:N166S;ENSP00000385747:N166S;ENSP00000386087:N166S;ENSP00000372023:N209S;ENSP00000384835:N166S;ENSP00000408065:N197S	ENSP00000329178:N166S	N	-	2	0	CHEK2	27451060	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.446000	0.66600	2.247000	0.74100	0.477000	0.44152	AAT		0.353	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		6	76	0	0	0	0	6	76				
PKDREJ	10343	broad.mit.edu	37	22	46652485	46652485	+	Silent	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:46652485C>T	ENST00000253255.5	-	1	6734	c.6735G>A	c.(6733-6735)ggG>ggA	p.G2245G		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2245					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CCATTTTCTTCCCGTTGATGT	0.473																																						uc003bhh.2		NA																	0				breast(3)|ovary(2)	5						c.(6733-6735)GGG>GGA		receptor for egg jelly-like protein precursor							139.0	126.0	131.0					22																	46652485		2203	4300	6503	SO:0001819	synonymous_variant	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46652485C>T	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.6735G>A	22.37:g.46652485C>T							p.G2245G	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	6735	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	2245			Cytoplasmic (Potential).		B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	c.6735G>A	CCDS14073.1																																																																																				0.473	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		10	94	0	0	0	0	10	94				
PKDREJ	10343	broad.mit.edu	37	22	46653078	46653078	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:46653078G>C	ENST00000253255.5	-	1	6141	c.6142C>G	c.(6142-6144)Cac>Gac	p.H2048D		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2048					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CTCATAATGTGATCTACCTGA	0.438																																						uc003bhh.2		NA																	0				breast(3)|ovary(2)	5						c.(6142-6144)CAC>GAC		receptor for egg jelly-like protein precursor							79.0	82.0	81.0					22																	46653078		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46653078G>C	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.6142C>G	22.37:g.46653078G>C	ENSP00000253255:p.His2048Asp						p.H2048D	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	6142	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	2048			Helical; (Potential).		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.6142C>G	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.438619	0.25900	.	.	ENSG00000130943	ENST00000253255	T	0.69926	-0.44	5.81	4.81	0.61882	Polycystin cation channel, PKD1/PKD2 (1);	0.279329	0.31381	N	0.007756	T	0.72859	0.3513	M	0.68317	2.08	0.34965	D	0.75253	D	0.59767	0.986	P	0.56563	0.801	T	0.77064	-0.2726	10	0.20519	T	0.43	-20.8391	11.9312	0.52847	0.0807:0.0:0.9193:0.0	.	2048	Q9NTG1	PKDRE_HUMAN	D	2048	ENSP00000253255:H2048D	ENSP00000253255:H2048D	H	-	1	0	PKDREJ	45031742	0.997000	0.39634	0.725000	0.30721	0.302000	0.27658	1.466000	0.35310	1.477000	0.48234	-0.357000	0.07601	CAC		0.438	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		6	59	0	0	0	0	6	59				
PKDREJ	10343	broad.mit.edu	37	22	46653873	46653873	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:46653873C>T	ENST00000253255.5	-	1	5346	c.5347G>A	c.(5347-5349)Gaa>Aaa	p.E1783K		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1783					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GACGAGCTTTCAGGAAGAAAT	0.423																																						uc003bhh.2		NA																	0				breast(3)|ovary(2)	5						c.(5347-5349)GAA>AAA		receptor for egg jelly-like protein precursor							157.0	155.0	156.0					22																	46653873		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46653873C>T	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.5347G>A	22.37:g.46653873C>T	ENSP00000253255:p.Glu1783Lys						p.E1783K	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	5347	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1783			Extracellular (Potential).		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.5347G>A	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064801	0.55432	.	.	ENSG00000130943	ENST00000253255	T	0.70516	-0.49	4.8	3.76	0.43208	Polycystin cation channel, PKD1/PKD2 (1);	0.316676	0.26394	N	0.024630	T	0.55545	0.1927	N	0.22421	0.69	0.09310	N	0.999995	P	0.43826	0.818	B	0.40165	0.321	T	0.56288	-0.8004	10	0.62326	D	0.03	-19.4439	11.0638	0.47964	0.0:0.905:0.0:0.095	.	1783	Q9NTG1	PKDRE_HUMAN	K	1783	ENSP00000253255:E1783K	ENSP00000253255:E1783K	E	-	1	0	PKDREJ	45032537	0.975000	0.34042	0.115000	0.21578	0.973000	0.67179	3.429000	0.52800	2.398000	0.81561	0.305000	0.20034	GAA		0.423	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		19	172	0	0	0	0	19	172				
PKDREJ	10343	broad.mit.edu	37	22	46653935	46653935	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:46653935C>T	ENST00000253255.5	-	1	5284	c.5285G>A	c.(5284-5286)aGa>aAa	p.R1762K		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1762					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GTTTAGCCATCTATAGATGTC	0.423																																						uc003bhh.2		NA																	0				breast(3)|ovary(2)	5						c.(5284-5286)AGA>AAA		receptor for egg jelly-like protein precursor							126.0	121.0	123.0					22																	46653935		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46653935C>T	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.5285G>A	22.37:g.46653935C>T	ENSP00000253255:p.Arg1762Lys						p.R1762K	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	5285	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1762			Extracellular (Potential).		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.5285G>A	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	C	0.264	-0.997442	0.02145	.	.	ENSG00000130943	ENST00000253255	T	0.68331	-0.32	4.8	-4.86	0.03132	Polycystin cation channel, PKD1/PKD2 (1);	1.133880	0.06655	N	0.763357	T	0.50548	0.1622	L	0.54323	1.7	0.09310	N	1	B	0.30727	0.292	B	0.33042	0.157	T	0.43605	-0.9381	10	0.05436	T	0.98	-2.1699	3.9998	0.09574	0.1206:0.198:0.4907:0.1907	.	1762	Q9NTG1	PKDRE_HUMAN	K	1762	ENSP00000253255:R1762K	ENSP00000253255:R1762K	R	-	2	0	PKDREJ	45032599	0.000000	0.05858	0.000000	0.03702	0.150000	0.21749	-0.427000	0.06999	-0.983000	0.03511	0.305000	0.20034	AGA		0.423	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		17	115	0	0	0	0	17	115				
PKDREJ	10343	broad.mit.edu	37	22	46654045	46654045	+	Silent	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:46654045C>T	ENST00000253255.5	-	1	5174	c.5175G>A	c.(5173-5175)ttG>ttA	p.L1725L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1725					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CGATAAGGATCAACAGAAGGG	0.383																																						uc003bhh.2		NA																	0				breast(3)|ovary(2)	5						c.(5173-5175)TTG>TTA		receptor for egg jelly-like protein precursor							136.0	119.0	124.0					22																	46654045		2203	4300	6503	SO:0001819	synonymous_variant	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46654045C>T	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.5175G>A	22.37:g.46654045C>T							p.L1725L	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	5175	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1725			Helical; (Potential).		B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	c.5175G>A	CCDS14073.1																																																																																				0.383	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		8	52	0	0	0	0	8	52				
PKDREJ	10343	broad.mit.edu	37	22	46654120	46654120	+	Silent	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:46654120C>T	ENST00000253255.5	-	1	5099	c.5100G>A	c.(5098-5100)aaG>aaA	p.K1700K		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1700					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TGATCCTCTTCTTTCTTTTGA	0.418																																						uc003bhh.2		NA																	0				breast(3)|ovary(2)	5						c.(5098-5100)AAG>AAA		receptor for egg jelly-like protein precursor							192.0	156.0	168.0					22																	46654120		2203	4300	6503	SO:0001819	synonymous_variant	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46654120C>T	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.5100G>A	22.37:g.46654120C>T							p.K1700K	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	5100	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1700			Cytoplasmic (Potential).		B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	c.5100G>A	CCDS14073.1																																																																																				0.418	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		7	82	0	0	0	0	7	82				
PKDREJ	10343	broad.mit.edu	37	22	46654124	46654124	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:46654124C>T	ENST00000253255.5	-	1	5095	c.5096G>A	c.(5095-5097)aGa>aAa	p.R1699K		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1699					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CCTCTTCTTTCTTTTGAATAT	0.418																																						uc003bhh.2		NA																	0				breast(3)|ovary(2)	5						c.(5095-5097)AGA>AAA		receptor for egg jelly-like protein precursor							191.0	155.0	167.0					22																	46654124		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46654124C>T	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.5096G>A	22.37:g.46654124C>T	ENSP00000253255:p.Arg1699Lys						p.R1699K	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	5096	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1699			Cytoplasmic (Potential).		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.5096G>A	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	c	10.03	1.240015	0.22711	.	.	ENSG00000130943	ENST00000253255	T	0.38077	1.16	4.78	2.59	0.31030	.	0.241217	0.30602	N	0.009269	T	0.25531	0.0621	L	0.55990	1.75	0.09310	N	1	P	0.37330	0.59	B	0.33196	0.159	T	0.08576	-1.0715	10	0.24483	T	0.36	-18.2474	5.4572	0.16598	0.1722:0.6658:0.0:0.1619	.	1699	Q9NTG1	PKDRE_HUMAN	K	1699	ENSP00000253255:R1699K	ENSP00000253255:R1699K	R	-	2	0	PKDREJ	45032788	0.066000	0.20996	0.007000	0.13788	0.614000	0.37383	1.252000	0.32874	1.111000	0.41721	0.298000	0.19748	AGA		0.418	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		7	87	0	0	0	0	7	87				
PKDREJ	10343	broad.mit.edu	37	22	46654251	46654251	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:46654251C>T	ENST00000253255.5	-	1	4968	c.4969G>A	c.(4969-4971)Gag>Aag	p.E1657K		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1657					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AACCTGATCTCAGTATATTTA	0.438																																						uc003bhh.2		NA																	0				breast(3)|ovary(2)	5						c.(4969-4971)GAG>AAG		receptor for egg jelly-like protein precursor							123.0	109.0	114.0					22																	46654251		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46654251C>T	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.4969G>A	22.37:g.46654251C>T	ENSP00000253255:p.Glu1657Lys						p.E1657K	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	4969	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1657			Cytoplasmic (Potential).		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.4969G>A	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807272	0.50421	.	.	ENSG00000130943	ENST00000253255	T	0.39406	1.08	4.97	1.46	0.22682	.	0.219437	0.31415	N	0.007700	T	0.48370	0.1496	M	0.76574	2.34	0.23943	N	0.996397	D	0.56287	0.975	P	0.47673	0.554	T	0.50499	-0.8821	10	0.33940	T	0.23	-19.6368	15.0834	0.72133	0.0:0.5937:0.4063:0.0	.	1657	Q9NTG1	PKDRE_HUMAN	K	1657	ENSP00000253255:E1657K	ENSP00000253255:E1657K	E	-	1	0	PKDREJ	45032915	0.967000	0.33354	0.192000	0.23308	0.235000	0.25334	2.210000	0.42816	0.175000	0.19841	0.305000	0.20034	GAG		0.438	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		10	80	0	0	0	0	10	80				
PKDREJ	10343	broad.mit.edu	37	22	46654407	46654407	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:46654407C>G	ENST00000253255.5	-	1	4812	c.4813G>C	c.(4813-4815)Gac>Cac	p.D1605H		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1605					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATTGACTTGTCATAGCCGTAA	0.393																																						uc003bhh.2		NA																	0				breast(3)|ovary(2)	5						c.(4813-4815)GAC>CAC		receptor for egg jelly-like protein precursor							95.0	89.0	91.0					22																	46654407		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46654407C>G	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.4813G>C	22.37:g.46654407C>G	ENSP00000253255:p.Asp1605His						p.D1605H	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	4813	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1605			Extracellular (Potential).		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.4813G>C	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	C	9.769	1.172282	0.21704	.	.	ENSG00000130943	ENST00000253255	T	0.21932	1.98	4.7	-0.595	0.11660	.	1.641040	0.03552	N	0.225676	T	0.22820	0.0551	L	0.58810	1.83	0.09310	N	1	P	0.39964	0.697	B	0.38500	0.275	T	0.33266	-0.9875	10	0.52906	T	0.07	-1.0031	6.2375	0.20772	0.0:0.514:0.199:0.2871	.	1605	Q9NTG1	PKDRE_HUMAN	H	1605	ENSP00000253255:D1605H	ENSP00000253255:D1605H	D	-	1	0	PKDREJ	45033071	0.000000	0.05858	0.002000	0.10522	0.568000	0.35870	0.021000	0.13489	0.172000	0.19760	0.305000	0.20034	GAC		0.393	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		6	53	0	0	0	0	6	53				
PKDREJ	10343	broad.mit.edu	37	22	46654584	46654584	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:46654584C>T	ENST00000253255.5	-	1	4635	c.4636G>A	c.(4636-4638)Gat>Aat	p.D1546N		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1546					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TCCTGATCATCTTCTATGTTG	0.483																																						uc003bhh.2		NA																	0				breast(3)|ovary(2)	5						c.(4636-4638)GAT>AAT		receptor for egg jelly-like protein precursor							231.0	232.0	232.0					22																	46654584		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46654584C>T	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.4636G>A	22.37:g.46654584C>T	ENSP00000253255:p.Asp1546Asn						p.D1546N	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	4636	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1546			Cytoplasmic (Potential).		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.4636G>A	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	C	8.552	0.875842	0.17395	.	.	ENSG00000130943	ENST00000253255	T	0.35789	1.29	4.47	-0.321	0.12717	.	5.436940	0.00541	N	0.000235	T	0.26048	0.0635	L	0.38838	1.175	0.09310	N	1	B	0.22909	0.077	B	0.15870	0.014	T	0.05750	-1.0866	10	0.24483	T	0.36	-4.7832	2.7261	0.05214	0.2515:0.4785:0.1224:0.1476	.	1546	Q9NTG1	PKDRE_HUMAN	N	1546	ENSP00000253255:D1546N	ENSP00000253255:D1546N	D	-	1	0	PKDREJ	45033248	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.216000	0.17585	-0.046000	0.13446	-0.350000	0.07774	GAT		0.483	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		33	233	0	0	0	0	33	233				
PKDREJ	10343	broad.mit.edu	37	22	46654926	46654926	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:46654926C>T	ENST00000253255.5	-	1	4293	c.4294G>A	c.(4294-4296)Gaa>Aaa	p.E1432K		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1432					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.E1432*(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AAGACACTTTCAATTCCTATC	0.348																																						uc003bhh.2		NA																	1	Substitution - Nonsense(1)		skin(1)	breast(3)|ovary(2)	5						c.(4294-4296)GAA>AAA		receptor for egg jelly-like protein precursor							59.0	56.0	57.0					22																	46654926		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46654926C>T	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.4294G>A	22.37:g.46654926C>T	ENSP00000253255:p.Glu1432Lys						p.E1432K	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	4294	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1432			Helical; (Potential).		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.4294G>A	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936425	0.73442	.	.	ENSG00000130943	ENST00000253255	T	0.37411	1.2	5.06	2.91	0.33838	.	0.100195	0.43110	D	0.000602	T	0.56366	0.1980	M	0.73598	2.24	0.32252	N	0.571346	D	0.69078	0.997	D	0.67548	0.952	T	0.67177	-0.5736	10	0.49607	T	0.09	-17.5529	13.2854	0.60241	0.0:0.6968:0.3032:0.0	.	1432	Q9NTG1	PKDRE_HUMAN	K	1432	ENSP00000253255:E1432K	ENSP00000253255:E1432K	E	-	1	0	PKDREJ	45033590	0.970000	0.33590	0.607000	0.28956	0.965000	0.64279	1.150000	0.31639	0.617000	0.30160	0.561000	0.74099	GAA		0.348	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		8	61	0	0	0	0	8	61				
PKDREJ	10343	broad.mit.edu	37	22	46654948	46654948	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:46654948C>T	ENST00000253255.5	-	1	4271	c.4272G>A	c.(4270-4272)atG>atA	p.M1424I		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1424					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TCATTGATCTCATGTATTTCC	0.348																																						uc003bhh.2		NA																	0				breast(3)|ovary(2)	5						c.(4270-4272)ATG>ATA		receptor for egg jelly-like protein precursor							57.0	54.0	55.0					22																	46654948		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46654948C>T	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.4272G>A	22.37:g.46654948C>T	ENSP00000253255:p.Met1424Ile						p.M1424I	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	4272	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1424			Extracellular (Potential).		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.4272G>A	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.435513	0.01108	.	.	ENSG00000130943	ENST00000253255	T	0.32023	1.47	5.06	2.92	0.33932	.	1.340610	0.05064	N	0.480396	T	0.09730	0.0239	N	0.00368	-1.59	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.22941	-1.0202	10	0.17832	T	0.49	-8.0359	9.3372	0.38058	0.0:0.3228:0.5343:0.1428	.	1424	Q9NTG1	PKDRE_HUMAN	I	1424	ENSP00000253255:M1424I	ENSP00000253255:M1424I	M	-	3	0	PKDREJ	45033612	0.005000	0.15991	0.618000	0.29105	0.171000	0.22731	-0.037000	0.12164	0.639000	0.30564	-0.270000	0.10280	ATG		0.348	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		8	60	0	0	0	0	8	60				
CPT1B	1375	broad.mit.edu	37	22	51010730	51010730	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr22:51010730C>G	ENST00000360719.2	-	12	1497	c.1360G>C	c.(1360-1362)Gac>Cac	p.D454H	CPT1B_ENST00000405237.3_Missense_Mutation_p.D454H|CPT1B_ENST00000434492.2_Missense_Mutation_p.D251H|CPT1B_ENST00000312108.7_Missense_Mutation_p.D454H|CPT1B_ENST00000440709.1_Missense_Mutation_p.D373H|CPT1B_ENST00000457250.1_Missense_Mutation_p.D420H|CPT1B_ENST00000395650.2_Missense_Mutation_p.D454H|CHKB-CPT1B_ENST00000453634.1_3'UTR	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	454					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		AAGGATTTGTCAAACCACCTG	0.507																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	uc003bmk.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1360-1362)GAC>CAC		carnitine palmitoyltransferase 1B isoform a							65.0	58.0	60.0					22																	51010730		2203	4298	6501	SO:0001583	missense	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51010730C>G	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1360G>C	22.37:g.51010730C>G	ENSP00000353945:p.Asp454His					CPT1B_uc003bml.2_Missense_Mutation_p.D454H|CPT1B_uc003bmm.2_Missense_Mutation_p.D454H|CPT1B_uc003bmo.2_Missense_Mutation_p.D454H|CPT1B_uc011asa.1_Missense_Mutation_p.D420H|CPT1B_uc003bmn.2_Missense_Mutation_p.D454H|CPT1B_uc011asb.1_Missense_Mutation_p.D373H|CHKB-CPT1B_uc003bmp.2_Missense_Mutation_p.D251H|uc003bmr.1_RNA	p.D454H	NM_001145137	NP_001138609	Q92523	CPT1B_HUMAN		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)	11	1522	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	454			Cytoplasmic (Potential).		B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	ENST00000360719.2	37	c.1360G>C	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167424	0.78339	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	D;D;D;D;D;D;D	0.97710	-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.99366	0.9777	H	0.99090	4.425	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.999	D	0.98342	1.0539	10	0.87932	D	0	-39.6839	16.8974	0.86104	0.0:1.0:0.0:0.0	.	373;420;251;454	E9PCP2;B7Z4U4;A2RRE8;Q92523	.;.;.;CPT1B_HUMAN	H	454;454;454;420;373;251;454	ENSP00000385486:D454H;ENSP00000312189:D454H;ENSP00000353945:D454H;ENSP00000409342:D420H;ENSP00000414713:D373H;ENSP00000410966:D251H;ENSP00000379011:D454H	ENSP00000312189:D454H	D	-	1	0	CPT1B	49357596	1.000000	0.71417	0.996000	0.52242	0.609000	0.37215	7.444000	0.80532	2.586000	0.87340	0.561000	0.74099	GAC		0.507	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		6	38	0	0	0	0	6	38				
PBRM1	55193	broad.mit.edu	37	3	52623229	52623229	+	Nonsense_Mutation	SNP	G	G	C	rs141067977		TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr3:52623229G>C	ENST00000296302.7	-	18	2823	c.2822C>G	c.(2821-2823)tCa>tGa	p.S941*	PBRM1_ENST00000409767.1_Nonsense_Mutation_p.S956*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.S941*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.S941*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.S956*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.S941*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.S941*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.S909*			Q86U86	PB1_HUMAN	polybromo 1	941					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATGTAAGCCTGAGAGGCCTGC	0.428			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	uc003des.2		NA		Rec	yes		3	3p21	55193	Mis|N|F|S|D|O	polybromo 1			E			clear cell renal carcinoma|breast		0				kidney(136)|breast(4)	140						c.(2821-2823)TCA>TGA		polybromo 1 isoform 4							145.0	142.0	143.0					3																	52623229		2203	4300	6503	SO:0001587	stop_gained	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52623229G>C	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2822C>G	3.37:g.52623229G>C	ENSP00000296302:p.Ser941*					PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Nonsense_Mutation_p.S941*|PBRM1_uc003der.2_Nonsense_Mutation_p.S909*|PBRM1_uc003det.2_Nonsense_Mutation_p.S956*|PBRM1_uc003deu.2_Nonsense_Mutation_p.S956*|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Nonsense_Mutation_p.S941*|PBRM1_uc010hmk.1_Nonsense_Mutation_p.S941*|PBRM1_uc003dey.2_Nonsense_Mutation_p.S941*|PBRM1_uc003dez.1_Nonsense_Mutation_p.S940*|PBRM1_uc003dfb.1_Nonsense_Mutation_p.S853*|PBRM1_uc003dfa.1_Nonsense_Mutation_p.S287*	p.S941*	NM_181042	NP_060635	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	18	2834	-			941					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37	c.2822C>G		.	.	.	.	.	.	.	.	.	.	G	39	7.873850	0.98537	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.27	5.27	0.74061	.	0.295904	0.33382	N	0.004967	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-30.7323	18.8903	0.92397	0.0:0.0:1.0:0.0	.	.	.	.	X	909;941;941;941;941;941;956;956;940;899	.	ENSP00000296302:S941X	S	-	2	0	PBRM1	52598269	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.749000	0.68704	2.448000	0.82819	0.591000	0.81541	TCA		0.428	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		13	110	0	0	0	0	13	110				
PRICKLE2	166336	broad.mit.edu	37	3	64132920	64132920	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr3:64132920G>C	ENST00000295902.6	-	7	1831	c.1246C>G	c.(1246-1248)Ctg>Gtg	p.L416V	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.L472V	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	416					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		AGGAGCTGCAGAGGGCTCTGG	0.612																																						uc003dmf.2		NA																	0				ovary(4)|skin(1)	5						c.(1246-1248)CTG>GTG		prickle-like 2							78.0	82.0	81.0					3																	64132920		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64132920G>C	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1246C>G	3.37:g.64132920G>C	ENSP00000295902:p.Leu416Val						p.L416V	NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	7	1832	-		Lung NSC(201;0.136)	416					Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.1246C>G	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.290396	0.23478	.	.	ENSG00000163637	ENST00000295902	T	0.59083	0.29	5.74	-3.84	0.04256	.	0.103019	0.42420	D	0.000713	T	0.41604	0.1166	L	0.43152	1.355	0.32344	N	0.559304	B	0.23650	0.089	B	0.20577	0.03	T	0.32322	-0.9911	10	0.66056	D	0.02	-22.2142	8.6797	0.34201	0.506:0.0:0.396:0.098	.	416	Q7Z3G6	PRIC2_HUMAN	V	416	ENSP00000295902:L416V	ENSP00000295902:L416V	L	-	1	2	PRICKLE2	64107960	0.684000	0.27642	0.418000	0.26571	0.699000	0.40488	0.989000	0.29629	-0.362000	0.08113	-0.339000	0.08088	CTG		0.612	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		21	93	0	0	0	0	21	93				
PROS1	5627	broad.mit.edu	37	3	93617301	93617301	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr3:93617301C>G	ENST00000394236.3	-	8	1156	c.840G>C	c.(838-840)aaG>aaC	p.K280N	PROS1_ENST00000407433.1_Missense_Mutation_p.K149N	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	280	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CCTCACAACTCTTCTGATCTT	0.383																																						uc003drb.3		NA																	0				large_intestine(1)	1						c.(838-840)AAG>AAC		protein S, alpha preproprotein	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						99.0	93.0	95.0					3																	93617301		2203	4300	6503	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93617301C>G		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.840G>C	3.37:g.93617301C>G	ENSP00000377783:p.Lys280Asn					PROS1_uc010hoo.2_Missense_Mutation_p.K149N|PROS1_uc003dqz.3_Missense_Mutation_p.K149N	p.K280N	NM_000313	NP_000304	P07225	PROS_HUMAN			8	1181	-			280			EGF-like 4; calcium-binding (Potential).		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.840G>C	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	7.760	0.705115	0.15172	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	T;T	0.78481	-1.18;-1.18	4.26	3.38	0.38709	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.340285	0.29822	N	0.011111	T	0.57446	0.2054	N	0.17872	0.535	0.33922	D	0.641007	B	0.33694	0.421	B	0.35470	0.203	T	0.58239	-0.7671	10	0.10377	T	0.69	.	5.791	0.18361	0.0:0.6646:0.1611:0.1743	.	280	P07225	PROS_HUMAN	N	280;149	ENSP00000377783:K280N;ENSP00000385794:K149N	ENSP00000377783:K280N	K	-	3	2	PROS1	95099991	0.262000	0.24073	1.000000	0.80357	0.841000	0.47740	0.917000	0.28665	1.150000	0.42419	0.585000	0.79938	AAG		0.383	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		5	64	0	0	0	0	5	64				
ARHGAP31	57514	broad.mit.edu	37	3	119134182	119134182	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr3:119134182G>A	ENST00000264245.4	+	12	3938	c.3406G>A	c.(3406-3408)Gag>Aag	p.E1136K		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1136					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GCAGGTCTCTGAGCCAGGAGA	0.532																																					Pancreas(7;176 297 5394 51128 51241)	uc003ecj.3		NA																	0				ovary(2)	2						c.(3406-3408)GAG>AAG		Cdc42 GTPase-activating protein							89.0	86.0	87.0					3																	119134182		1933	4149	6082	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119134182G>A		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.3406G>A	3.37:g.119134182G>A	ENSP00000264245:p.Glu1136Lys						p.E1136K	NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN			12	3938	+			1136					Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.3406G>A	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722027	0.30503	.	.	ENSG00000031081	ENST00000264245	T	0.06449	3.3	5.53	4.65	0.58169	.	0.321128	0.26723	N	0.022833	T	0.08447	0.0210	L	0.50919	1.6	0.09310	N	1	B	0.23316	0.083	B	0.19391	0.025	T	0.17776	-1.0358	10	0.27785	T	0.31	.	15.5337	0.75986	0.0:0.1383:0.8617:0.0	.	1136	Q2M1Z3	RHG31_HUMAN	K	1136	ENSP00000264245:E1136K	ENSP00000264245:E1136K	E	+	1	0	ARHGAP31	120616872	0.999000	0.42202	0.988000	0.46212	0.556000	0.35491	3.118000	0.50414	1.525000	0.49052	0.655000	0.94253	GAG		0.532	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			6	74	0	0	0	0	6	74				
KBTBD12	166348	broad.mit.edu	37	3	127646718	127646718	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr3:127646718G>A	ENST00000405109.1	+	3	1649	c.1182G>A	c.(1180-1182)atG>atA	p.M394I	KBTBD12_ENST00000407609.3_Start_Codon_SNP_p.M1I|KBTBD12_ENST00000405256.1_Missense_Mutation_p.M394I|KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000492025.1_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	394										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						GAGGACAGATGAAAATTAAAA	0.393																																						uc010hsr.2		NA																	0				ovary(1)	1						c.(1180-1182)ATG>ATA		kelch domain containing 6							107.0	117.0	114.0					3																	127646718		2203	4300	6503	SO:0001583	missense	166348							g.chr3:127646718G>A		CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.1182G>A	3.37:g.127646718G>A	ENSP00000385957:p.Met394Ile					KBTBD12_uc003ejy.3_Missense_Mutation_p.M1I|KBTBD12_uc010hsq.2_Intron|KBTBD12_uc003eka.3_Intron|KBTBD12_uc003ejz.2_Missense_Mutation_p.M394I	p.M394I	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN			2	1185	+			394			Kelch 1.		B5MCC6|Q6ZRK1	Missense_Mutation	SNP	ENST00000405109.1	37	c.1182G>A	CCDS33848.2	.	.	.	.	.	.	.	.	.	.	G	33	5.229765	0.95173	.	.	ENSG00000187715	ENST00000405109;ENST00000407609;ENST00000405256	T;T;T	0.77098	-1.07;-0.61;-1.07	5.94	5.94	0.96194	Kelch-type beta propeller (1);	.	.	.	.	D	0.84032	0.5383	L	0.31926	0.97	0.58432	D	0.999999	D	0.69078	0.997	D	0.79108	0.992	D	0.84701	0.0728	9	0.72032	D	0.01	.	20.3593	0.98849	0.0:0.0:1.0:0.0	.	394	Q3ZCT8	KBTBC_HUMAN	I	394;1;394	ENSP00000385957:M394I;ENSP00000385830:M1I;ENSP00000385879:M394I	ENSP00000385957:M394I	M	+	3	0	KBTBD12	129129408	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.269000	0.72558	2.807000	0.96579	0.591000	0.81541	ATG		0.393	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335		20	146	0	0	0	0	20	146				
PIK3R4	30849	broad.mit.edu	37	3	130452968	130452968	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr3:130452968G>C	ENST00000356763.3	-	4	1431	c.874C>G	c.(874-876)Cag>Gag	p.Q292E		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	292	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TGAATCATCTGAGTTACCTAT	0.348																																						uc003enj.2		NA																	0				ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						c.(874-876)CAG>GAG		phosphoinositide-3-kinase, regulatory subunit 4							56.0	55.0	56.0					3																	130452968		2199	4277	6476	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130452968G>C	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.874C>G	3.37:g.130452968G>C	ENSP00000349205:p.Gln292Glu						p.Q292E	NM_014602	NP_055417	Q99570	PI3R4_HUMAN			4	1455	-			292			Protein kinase.		Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.874C>G	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831063	0.71258	.	.	ENSG00000196455	ENST00000356763	T	0.27890	1.64	6.07	6.07	0.98685	Serine/threonine-protein kinase-like domain (1);Armadillo-like helical (1);Protein kinase-like domain (1);Armadillo-type fold (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.30417	0.0764	L	0.43923	1.385	0.80722	D	1	P	0.37352	0.591	B	0.39562	0.303	T	0.03483	-1.1032	10	0.06757	T	0.87	-20.7306	20.6439	0.99570	0.0:0.0:1.0:0.0	.	292	Q99570	PI3R4_HUMAN	E	292	ENSP00000349205:Q292E	ENSP00000349205:Q292E	Q	-	1	0	PIK3R4	131935658	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.476000	0.97823	2.890000	0.99128	0.650000	0.86243	CAG		0.348	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		9	65	0	0	0	0	9	65				
PIK3R4	30849	broad.mit.edu	37	3	130463505	130463505	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr3:130463505G>C	ENST00000356763.3	-	2	1115	c.558C>G	c.(556-558)ttC>ttG	p.F186L		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	186	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						ATGTGTCAAAGAAATAATTGA	0.408																																						uc003enj.2		NA																	0				ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						c.(556-558)TTC>TTG		phosphoinositide-3-kinase, regulatory subunit 4							88.0	85.0	86.0					3																	130463505		2203	4300	6503	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130463505G>C	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.558C>G	3.37:g.130463505G>C	ENSP00000349205:p.Phe186Leu						p.F186L	NM_014602	NP_055417	Q99570	PI3R4_HUMAN			2	1139	-			186			Protein kinase.		Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.558C>G	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.179208	0.57800	.	.	ENSG00000196455	ENST00000356763	T	0.64618	-0.11	5.42	2.49	0.30216	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.61751	0.2372	L	0.43554	1.36	0.80722	D	1	P	0.42296	0.775	P	0.49829	0.623	T	0.61589	-0.7032	10	0.87932	D	0	-17.1131	10.4495	0.44513	0.2067:0.0:0.7933:0.0	.	186	Q99570	PI3R4_HUMAN	L	186	ENSP00000349205:F186L	ENSP00000349205:F186L	F	-	3	2	PIK3R4	131946195	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.114000	0.57858	0.297000	0.22615	0.462000	0.41574	TTC		0.408	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		11	48	0	0	0	0	11	48				
ZBTB38	253461	broad.mit.edu	37	3	141163924	141163924	+	Missense_Mutation	SNP	G	G	T	rs185560584		TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr3:141163924G>T	ENST00000514251.1	+	4	2973	c.2694G>T	c.(2692-2694)gaG>gaT	p.E898D	ZBTB38_ENST00000441582.2_Missense_Mutation_p.E898D|ZBTB38_ENST00000321464.5_Missense_Mutation_p.E899D					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AGTGCATGGAGATGAGTGAAG	0.522																																						uc003etw.2		NA																	0				ovary(3)	3						c.(2692-2694)GAG>GAT		zinc finger and BTB domain containing 38							56.0	57.0	57.0					3																	141163924		1987	4165	6152	SO:0001583	missense	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141163924G>T	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.2694G>T	3.37:g.141163924G>T	ENSP00000426387:p.Glu898Asp					ZBTB38_uc010hun.2_Missense_Mutation_p.E895D|ZBTB38_uc010huo.2_Missense_Mutation_p.E898D|ZBTB38_uc003ety.2_Missense_Mutation_p.E898D|ZBTB38_uc010hup.2_Missense_Mutation_p.E899D	p.E898D	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN			8	3676	+			898						Missense_Mutation	SNP	ENST00000514251.1	37	c.2694G>T	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.793639	0.50102	.	.	ENSG00000177311	ENST00000514251;ENST00000441582;ENST00000321464	T;T;T	0.10573	2.86;2.86;2.86	5.28	0.931	0.19460	.	0.168569	0.42682	D	0.000668	T	0.22322	0.0538	M	0.62723	1.935	0.28096	N	0.931598	D;D	0.67145	0.996;0.996	P;P	0.60609	0.877;0.877	T	0.03524	-1.1028	9	.	.	.	-21.2679	11.0556	0.47915	0.3628:0.0:0.6372:0.0	.	899;898	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	D	898;898;899	ENSP00000426387:E898D;ENSP00000406955:E898D;ENSP00000372635:E899D	.	E	+	3	2	ZBTB38	142646614	0.916000	0.31088	0.942000	0.38095	0.861000	0.49209	-0.087000	0.11215	0.244000	0.21351	-0.142000	0.14014	GAG		0.522	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			16	49	1	0	6.72e-11	1.21e-10	16	49				
AGTR1	185	broad.mit.edu	37	3	148459824	148459824	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr3:148459824G>A	ENST00000497524.1	+	2	1393	c.1002G>A	c.(1000-1002)atG>atA	p.M334I	AGTR1_ENST00000349243.3_Missense_Mutation_p.M334I|AGTR1_ENST00000474935.1_Missense_Mutation_p.M334I|AGTR1_ENST00000402260.1_Missense_Mutation_p.M334I|AGTR1_ENST00000404754.2_Missense_Mutation_p.M334I|AGTR1_ENST00000475347.1_Missense_Mutation_p.M334I|AGTR1_ENST00000418473.2_Missense_Mutation_p.M334I|AGTR1_ENST00000461609.1_Missense_Mutation_p.M334I|AGTR1_ENST00000542281.1_Missense_Mutation_p.M334I	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	334					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	CAACAAAAATGAGCACGCTTT	0.403																																						uc003ewg.2		NA																	0					0						c.(1000-1002)ATG>ATA		angiotensin II receptor, type 1	Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)						71.0	69.0	70.0					3																	148459824		2199	4298	6497	SO:0001583	missense	185				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	g.chr3:148459824G>A	M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"""GPCR / Class A : Angiotensin receptors"""	336	protein-coding gene	gene with protein product		106165	"""angiotensin receptor 1B"""	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.1002G>A	3.37:g.148459824G>A	ENSP00000419422:p.Met334Ile					AGTR1_uc003ewh.2_Missense_Mutation_p.M334I|AGTR1_uc003ewi.2_Missense_Mutation_p.M334I|AGTR1_uc003ewj.2_Missense_Mutation_p.M334I|AGTR1_uc003ewk.2_Missense_Mutation_p.M334I	p.M334I	NM_031850	NP_114038	P30556	AGTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		4	1448	+			334			Cytoplasmic (Potential).		Q13725|Q8TBK4	Missense_Mutation	SNP	ENST00000497524.1	37	c.1002G>A	CCDS3137.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.252573	0.39797	.	.	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	T;T;T;T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.65270	0.2675	L	0.59436	1.845	0.53688	D	0.999978	B	0.19935	0.04	B	0.13407	0.009	T	0.59627	-0.7419	10	0.20046	T	0.44	-21.394	13.7187	0.62714	0.0736:0.0:0.9264:0.0	.	334	P30556	AGTR1_HUMAN	I	334	ENSP00000419422:M334I;ENSP00000273430:M334I;ENSP00000443186:M334I;ENSP00000398832:M334I;ENSP00000385612:M334I;ENSP00000419783:M334I;ENSP00000418084:M334I;ENSP00000418851:M334I;ENSP00000385641:M334I	ENSP00000273430:M334I	M	+	3	0	AGTR1	149942514	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.293000	0.65680	2.591000	0.87537	0.650000	0.86243	ATG		0.403	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355807.1			7	44	0	0	0	0	7	44				
SI	6476	broad.mit.edu	37	3	164776814	164776814	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr3:164776814C>G	ENST00000264382.3	-	12	1397	c.1335G>C	c.(1333-1335)gaG>gaC	p.E445D		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	445	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TGTTTCCCCTCTCATAGGTTG	0.363										HNSCC(35;0.089)																												uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(1333-1335)GAG>GAC		sucrase-isomaltase	Acarbose(DB00284)						107.0	95.0	99.0					3																	164776814		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.chr3:164776814C>G	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.1335G>C	3.37:g.164776814C>G	ENSP00000264382:p.Glu445Asp	HNSCC(35;0.089)					p.E445D	NM_001041	NP_001032	P14410	SUIS_HUMAN			12	1397	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	445			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.1335G>C	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	0.919	-0.716483	0.03206	.	.	ENSG00000090402	ENST00000264382	D	0.91577	-2.87	5.57	-11.1	0.00147	Glycoside hydrolase, superfamily (1);	0.647096	0.16569	N	0.208715	T	0.68220	0.2977	N	0.04373	-0.215	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.57814	-0.7746	10	0.02654	T	1	.	11.969	0.53053	0.1083:0.6639:0.106:0.1218	.	445	P14410	SUIS_HUMAN	D	445	ENSP00000264382:E445D	ENSP00000264382:E445D	E	-	3	2	SI	166259508	0.000000	0.05858	0.002000	0.10522	0.072000	0.16883	-2.448000	0.01009	-3.413000	0.00168	-0.171000	0.13296	GAG		0.363	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		3	48	0	0	0	0	3	48				
HTR3C	170572	broad.mit.edu	37	3	183778119	183778119	+	Silent	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr3:183778119C>G	ENST00000318351.1	+	9	1357	c.1323C>G	c.(1321-1323)gtC>gtG	p.V441V		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	441					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	TCCTTACTGTCATTGTCCTCT	0.557																																						uc003fmk.2		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1321-1323)GTC>GTG		5-hydroxytryptamine receptor 3 subunit C							221.0	187.0	198.0					3																	183778119		2203	4300	6503	SO:0001819	synonymous_variant	170572					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183778119C>G	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.1323C>G	3.37:g.183778119C>G							p.V441V	NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		9	1357	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		441			Helical; Name=4; (Potential).		A2RRR5	Silent	SNP	ENST00000318351.1	37	c.1323C>G	CCDS3250.1																																																																																				0.557	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770		24	183	0	0	0	0	24	183				
AP2M1	1173	broad.mit.edu	37	3	183896841	183896841	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr3:183896841G>C	ENST00000292807.5	+	3	419	c.271G>C	c.(271-273)Gcc>Ccc	p.A91P	AP2M1_ENST00000411763.2_Missense_Mutation_p.A116P|AP2M1_ENST00000382456.3_Missense_Mutation_p.A91P|AP2M1_ENST00000439647.1_Missense_Mutation_p.A91P|EIF2B5_ENST00000444495.1_Intron	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	91					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGTGATGGCTGCCTACTTTGG	0.522																																						uc011bqx.1		NA																	0					0						c.(271-273)GCC>CCC		adaptor-related protein complex 2, mu 1 subunit							136.0	140.0	139.0					3																	183896841		2067	4205	6272	SO:0001583	missense	1173				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity	g.chr3:183896841G>C	U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, medium 1"", ""plasma membrane adaptor AP-2 50kDA protein"", ""clathrin coat adaptor protein AP50"", ""clathrin adaptor complex AP2, mu subunit"", ""HA2 50 kDA subunit"", ""clathrin assembly protein complex 2 medium chain"", ""AP-2 mu 2 chain"""	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.271G>C	3.37:g.183896841G>C	ENSP00000292807:p.Ala91Pro					AP2M1_uc003fmw.2_Missense_Mutation_p.A91P|AP2M1_uc003fmx.2_Missense_Mutation_p.A91P|AP2M1_uc003fmy.2_Missense_Mutation_p.A91P|AP2M1_uc011bqy.1_5'Flank|AP2M1_uc011bqz.1_5'Flank	p.A91P	NM_004068	NP_004059	Q96CW1	AP2M1_HUMAN	Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		3	428	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		91					A6NE12|D3DNT1|P20172|P53679	Missense_Mutation	SNP	ENST00000292807.5	37	c.271G>C	CCDS43177.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878512	0.72294	.	.	ENSG00000161203	ENST00000382456;ENST00000427072;ENST00000411763;ENST00000292807;ENST00000540821;ENST00000539646;ENST00000448139;ENST00000455925;ENST00000439647;ENST00000432591;ENST00000431779	T;T;T;T	0.64438	-0.09;-0.1;-0.09;-0.09	5.65	5.65	0.86999	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	T	0.61286	0.2335	L	0.49513	1.565	0.80722	D	1	B;B;B	0.12013	0.005;0.001;0.001	B;B;B	0.10450	0.002;0.005;0.001	T	0.56890	-0.7904	10	0.62326	D	0.03	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	91;116;91	Q96CW1;E9PFW3;Q96CW1-2	AP2M1_HUMAN;.;.	P	91;114;116;91;31;78;93;91;91;91;91	ENSP00000371894:A91P;ENSP00000403362:A116P;ENSP00000292807:A91P;ENSP00000409081:A91P	ENSP00000292807:A91P	A	+	1	0	AP2M1	185379535	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.263000	0.95617	2.941000	0.99782	0.655000	0.94253	GCC		0.522	AP2M1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346013.1	NM_004068		3	130	0	0	0	0	3	130				
GP5	2814	broad.mit.edu	37	3	194118031	194118031	+	Silent	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr3:194118031C>G	ENST00000401815.1	-	1	1052	c.981G>C	c.(979-981)ctG>ctC	p.L327L	GP5_ENST00000323007.3_Silent_p.L327L			P40197	GPV_HUMAN	glycoprotein V (platelet)	327					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GAAGCGCGCTCAGCCGCGGGC	0.726																																						uc003ftv.1		NA																	0				skin(2)|breast(1)	3						c.(979-981)CTG>CTC		glycoprotein V (platelet) precursor							6.0	8.0	7.0					3																	194118031		1960	4024	5984	SO:0001819	synonymous_variant	2814				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		g.chr3:194118031C>G	L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"""CD molecules"""	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.981G>C	3.37:g.194118031C>G							p.L327L	NM_004488	NP_004479	P40197	GPV_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)	2	1012	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	327			Extracellular (Potential).		D1MER9	Silent	SNP	ENST00000401815.1	37	c.981G>C	CCDS3307.1																																																																																				0.726	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	NM_004488		3	22	0	0	0	0	3	22				
UVSSA	57654	broad.mit.edu	37	4	1360143	1360143	+	Silent	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr4:1360143C>T	ENST00000389851.4	+	8	1659	c.1212C>T	c.(1210-1212)gaC>gaT	p.D404D	UVSSA_ENST00000511216.1_Silent_p.D404D|UVSSA_ENST00000511563.1_5'UTR|UVSSA_ENST00000507531.1_Silent_p.D404D	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	404					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										AAGATGAGGACGATGAGGACT	0.587																																						uc003gde.3		NA																	0					0						c.(1210-1212)GAC>GAT		hypothetical protein LOC57654							179.0	178.0	178.0					4																	1360143		2203	4300	6503	SO:0001819	synonymous_variant	57654							g.chr4:1360143C>T	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"""KIAA1530"""	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.1212C>T	4.37:g.1360143C>T						KIAA1530_uc010ibv.2_Translation_Start_Site	p.D404D	NM_020894	NP_065945	Q2YD98	K1530_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0138)		8	1659	+			404					A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Silent	SNP	ENST00000389851.4	37	c.1212C>T	CCDS33938.1																																																																																				0.587	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		20	163	0	0	0	0	20	163				
TBC1D1	23216	broad.mit.edu	37	4	38134714	38134714	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr4:38134714A>G	ENST00000261439.4	+	19	3497	c.3142A>G	c.(3142-3144)Atg>Gtg	p.M1048V	TBC1D1_ENST00000508802.1_Missense_Mutation_p.M1039V|TBC1D1_ENST00000407365.1_3'UTR	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	1048					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GGTATTTGAAATGGACATCGC	0.423																																						uc003gtb.2		NA																	0				ovary(1)	1						c.(3142-3144)ATG>GTG		TBC1 (tre-2/USP6, BUB2, cdc16) domain family,							123.0	115.0	118.0					4																	38134714		2203	4300	6503	SO:0001583	missense	23216					nucleus	Rab GTPase activator activity	g.chr4:38134714A>G	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.3142A>G	4.37:g.38134714A>G	ENSP00000261439:p.Met1048Val					TBC1D1_uc011byd.1_Missense_Mutation_p.M1039V|TBC1D1_uc010ifd.2_Missense_Mutation_p.M835V|TBC1D1_uc003gtd.2_Missense_Mutation_p.M60V	p.M1048V	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN			19	3485	+			1048					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	ENST00000261439.4	37	c.3142A>G	CCDS33972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.44|16.44	3.123462|3.123462	0.56613|0.56613	.|.	.|.	ENSG00000065882|ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000454732|ENST00000510573	T;T|.	0.20738|.	3.61;2.05|.	4.97|4.97	4.97|4.97	0.65823|0.65823	Rab-GAP/TBC domain (1);|.	0.070558|.	0.64402|.	D|.	0.000012|.	T|T	0.73297|0.73297	0.3569|0.3569	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	B;B;P|.	0.36909|.	0.016;0.004;0.573|.	B;B;B|.	0.32465|.	0.029;0.005;0.146|.	T|T	0.73833|0.73833	-0.3858|-0.3858	10|5	0.37606|.	T|.	0.19|.	-26.1845|-26.1845	15.1227|15.1227	0.72457|0.72457	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1039;780;1048|.	E9PGH8;Q6PJJ8;Q86TI0|.	.;.;TBCD1_HUMAN|.	V|S	1039;1048;312|735	ENSP00000423651:M1039V;ENSP00000261439:M1048V|.	ENSP00000261439:M1048V|.	M|N	+|+	1|2	0|0	TBC1D1|TBC1D1	37811109|37811109	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	8.709000|8.709000	0.91379|0.91379	2.209000|2.209000	0.71365|0.71365	0.533000|0.533000	0.62120|0.62120	ATG|AAT		0.423	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		8	51	0	0	0	0	8	51				
PDS5A	23244	broad.mit.edu	37	4	39910122	39910122	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr4:39910122T>C	ENST00000303538.8	-	11	1665	c.1126A>G	c.(1126-1128)Att>Gtt	p.I376V	PDS5A_ENST00000503396.1_Missense_Mutation_p.I376V	NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)									p.I376L(1)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TCATGACGAATAGCTTCTTCT	0.353																																						uc003guv.3		NA																	1	Substitution - Missense(1)		endometrium(1)		0						c.(1126-1128)ATT>GTT		PDS5, regulator of cohesion maintenance, homolog							141.0	130.0	134.0					4																	39910122		1840	4087	5927	SO:0001583	missense	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39910122T>C	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.1126A>G	4.37:g.39910122T>C	ENSP00000303427:p.Ile376Val					PDS5A_uc010ifo.2_Missense_Mutation_p.I336V|PDS5A_uc003guw.3_Missense_Mutation_p.I376V	p.I376V	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN			11	1666	-			376						Missense_Mutation	SNP	ENST00000303538.8	37	c.1126A>G	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	T	7.495	0.651382	0.14516	.	.	ENSG00000121892	ENST00000303538;ENST00000503396	T;T	0.64803	0.11;-0.12	5.03	5.03	0.67393	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.42426	0.1202	N	0.08118	0	0.80722	D	1	B;B	0.14805	0.005;0.011	B;B	0.23574	0.025;0.047	T	0.31081	-0.9956	9	.	.	.	-6.6131	14.7558	0.69564	0.0:0.0:0.0:1.0	.	376;376	Q29RF7-3;Q29RF7	.;PDS5A_HUMAN	V	376	ENSP00000303427:I376V;ENSP00000426749:I376V	.	I	-	1	0	PDS5A	39586517	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.020000	0.88740	1.898000	0.54952	0.455000	0.32223	ATT		0.353	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		16	100	0	0	0	0	16	100				
MUC7	4589	broad.mit.edu	37	4	71346858	71346858	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr4:71346858C>A	ENST00000304887.5	+	3	587	c.397C>A	c.(397-399)Ccc>Acc	p.P133T	MUC7_ENST00000456088.1_Missense_Mutation_p.P133T|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000413702.1_Missense_Mutation_p.P133T	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	133	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			GACTTTTCTTCCCCAGAATGC	0.448																																						uc011cat.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(397-399)CCC>ACC		mucin 7, secreted precursor							153.0	144.0	147.0					4																	71346858		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71346858C>A	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.397C>A	4.37:g.71346858C>A	ENSP00000302021:p.Pro133Thr					MUC7_uc011cau.1_Missense_Mutation_p.P133T|MUC7_uc003hfj.2_Missense_Mutation_p.P133T|uc011cav.1_RNA	p.P133T	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	685	+			133			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.397C>A	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	C	7.482	0.648813	0.14516	.	.	ENSG00000171195	ENST00000413702;ENST00000505411;ENST00000456088;ENST00000304887	T;T;T;T	0.56941	0.45;0.43;0.45;0.45	3.03	-6.06	0.02165	.	.	.	.	.	T	0.28863	0.0716	N	0.19112	0.55	0.09310	N	1	B	0.16396	0.017	B	0.12837	0.008	T	0.21314	-1.0249	9	0.17369	T	0.5	-0.0581	7.5486	0.27781	0.4796:0.3818:0.1387:0.0	.	133	Q8TAX7	MUC7_HUMAN	T	133	ENSP00000407422:P133T;ENSP00000427594:P133T;ENSP00000400585:P133T;ENSP00000302021:P133T	ENSP00000302021:P133T	P	+	1	0	MUC7	71381447	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.587000	0.05780	-1.962000	0.01014	-0.211000	0.12701	CCC		0.448	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		13	106	1	0	4.38e-07	7.69e-07	13	106				
KIAA1109	84162	broad.mit.edu	37	4	123230492	123230492	+	Silent	SNP	A	A	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr4:123230492A>G	ENST00000264501.4	+	59	10498	c.10125A>G	c.(10123-10125)gcA>gcG	p.A3375A	KIAA1109_ENST00000455637.1_Silent_p.A3375A|KIAA1109_ENST00000388738.3_Silent_p.A3375A			Q2LD37	K1109_HUMAN	KIAA1109	3375					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCATCACTGCATGCTCTTCAG	0.378																																						uc003ieh.2		NA																	0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(10123-10125)GCA>GCG		fragile site-associated protein							140.0	129.0	132.0					4																	123230492		1856	4114	5970	SO:0001819	synonymous_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123230492A>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.10125A>G	4.37:g.123230492A>G						KIAA1109_uc003iel.1_Silent_p.A1310A	p.A3375A	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			57	10170	+			3375					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	c.10125A>G	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	G	8.770	0.925651	0.18056	.	.	ENSG00000138688	ENST00000419325	.	.	.	5.54	-11.1	0.00147	.	.	.	.	.	T	0.42131	0.1189	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53308	-0.8457	4	.	.	.	.	6.0943	0.20010	0.2865:0.4627:0.0739:0.1769	.	.	.	.	V	1333	.	.	M	+	1	0	KIAA1109	123449942	0.952000	0.32445	0.080000	0.20451	0.945000	0.59286	0.118000	0.15605	-3.055000	0.00258	-1.625000	0.00788	ATG		0.378	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		11	62	0	0	0	0	11	62				
DCHS2	54798	broad.mit.edu	37	4	155254167	155254167	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr4:155254167C>T	ENST00000357232.4	-	9	1695	c.1696G>A	c.(1696-1698)Gcc>Acc	p.A566T	DCHS2_ENST00000507542.1_5'Flank|DCHS2_ENST00000339452.1_Missense_Mutation_p.A1065T	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	566	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACCAGCAGGGCTGCCTGAGGA	0.607																																						uc003inw.2		NA																	0				ovary(3)|pancreas(1)	4						c.(1696-1698)GCC>ACC		dachsous 2 isoform 1							69.0	71.0	70.0					4																	155254167		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155254167C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1696G>A	4.37:g.155254167C>T	ENSP00000349768:p.Ala566Thr					DCHS2_uc003inx.2_Missense_Mutation_p.A1065T	p.A566T	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	9	1696	-	all_hematologic(180;0.208)	Renal(120;0.0854)	566			Cadherin 4.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.1696G>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735592	0.49045	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.51071	0.72;0.72	5.73	0.154	0.14901	Cadherin (4);Cadherin-like (1);	0.197506	0.34603	N	0.003838	T	0.25938	0.0632	N	0.11364	0.135	0.80722	D	1	B;B	0.31351	0.036;0.32	B;B	0.34301	0.055;0.179	T	0.03545	-1.1026	10	0.31617	T	0.26	.	9.4691	0.38831	0.5219:0.3677:0.0:0.1103	.	1065;566	E9PC11;Q6V1P9	.;PCD23_HUMAN	T	566;1065;1065	ENSP00000349768:A566T;ENSP00000345062:A1065T	ENSP00000345062:A1065T	A	-	1	0	DCHS2	155473617	0.846000	0.29590	0.001000	0.08648	0.026000	0.11368	1.857000	0.39399	-0.173000	0.10761	-1.475000	0.01000	GCC		0.607	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		9	84	0	0	0	0	9	84				
FAT1	2195	broad.mit.edu	37	4	187541760	187541760	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr4:187541760C>A	ENST00000441802.2	-	10	6189	c.5980G>T	c.(5980-5982)Gag>Tag	p.E1994*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1994	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E1994K(1)|p.E1997K(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTTTCGGCCTCGGTGGAATTC	0.418										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(5980-5982)GAG>TAG		FAT tumor suppressor 1 precursor							222.0	222.0	222.0					4																	187541760		1860	4100	5960	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187541760C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.5980G>T	4.37:g.187541760C>A	ENSP00000406229:p.Glu1994*	HNSCC(5;0.00058)					p.E1994*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	6168	-			1994			Extracellular (Potential).|Cadherin 18.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.5980G>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	45	11.376356	0.99553	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.26	5.26	0.73747	.	0.094023	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	9.6358	0.39806	0.0:0.8474:0.0:0.1526	.	.	.	.	X	1994;1996	.	ENSP00000260147:E1996X	E	-	1	0	FAT1	187778754	0.995000	0.38212	0.961000	0.40146	0.261000	0.26267	3.234000	0.51320	2.740000	0.93945	0.561000	0.74099	GAG		0.418	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		101	237	1	0	6.66e-36	1.21e-35	101	237				
GCNT4	51301	broad.mit.edu	37	5	74325189	74325189	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr5:74325189T>C	ENST00000322348.4	-	1	1535	c.674A>G	c.(673-675)aAc>aGc	p.N225S		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	225					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CCCACACAAGTTGATAACATA	0.418																																						uc003kdn.2		NA																	0				ovary(2)|skin(1)	3						c.(673-675)AAC>AGC		core 2 beta-1,6-N-acetylglucosaminyltransferase							68.0	72.0	71.0					5																	74325189		2196	4299	6495	SO:0001583	missense	51301				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr5:74325189T>C	AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	17973	protein-coding gene	gene with protein product	"""core 2 beta-1,6-N-acetylglucosaminyltransferase 3"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"""		"""glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.674A>G	5.37:g.74325189T>C	ENSP00000317027:p.Asn225Ser						p.N225S	NM_016591	NP_057675	Q9P109	GCNT4_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)	1	1536	-		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)	225			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000322348.4	37	c.674A>G	CCDS4026.1	.	.	.	.	.	.	.	.	.	.	.	21.7	4.185112	0.78677	.	.	ENSG00000176928	ENST00000322348	T	0.12465	2.68	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.49133	0.1539	M	0.92507	3.315	0.51233	D	0.999912	D	0.89917	1.0	D	0.91635	0.999	T	0.60551	-0.7241	10	0.72032	D	0.01	-11.8202	16.8061	0.85666	0.0:0.0:0.0:1.0	.	225	Q9P109	GCNT4_HUMAN	S	225	ENSP00000317027:N225S	ENSP00000317027:N225S	N	-	2	0	GCNT4	74360945	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.029000	0.88807	2.367000	0.80283	0.528000	0.53228	AAC		0.418	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591		4	78	0	0	0	0	4	78				
CMYA5	202333	broad.mit.edu	37	5	79030301	79030301	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr5:79030301C>G	ENST00000446378.2	+	2	5744	c.5713C>G	c.(5713-5715)Caa>Gaa	p.Q1905E		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1905					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGTGGCTAGTCAACACGAACA	0.468																																						uc003kgc.2		NA																	0				ovary(6)|pancreas(2)|lung(1)	9						c.(5713-5715)CAA>GAA		cardiomyopathy associated 5							41.0	42.0	42.0					5																	79030301		1916	4123	6039	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79030301C>G	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.5713C>G	5.37:g.79030301C>G	ENSP00000394770:p.Gln1905Glu						p.Q1905E	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	5785	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	1905					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.5713C>G	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.238314	0.22711	.	.	ENSG00000164309	ENST00000446378	T	0.04083	3.71	6.06	1.17	0.20885	.	0.720633	0.12505	N	0.462980	T	0.03011	0.0089	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.49254	-0.8959	10	0.13108	T	0.6	.	3.8724	0.09042	0.2706:0.3927:0.2624:0.0743	.	1905	Q8N3K9	CMYA5_HUMAN	E	1905	ENSP00000394770:Q1905E	ENSP00000394770:Q1905E	Q	+	1	0	CMYA5	79066057	0.000000	0.05858	0.042000	0.18584	0.013000	0.08279	0.054000	0.14205	-0.071000	0.12886	-0.181000	0.13052	CAA		0.468	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		7	42	0	0	0	0	7	42				
GPR98	84059	broad.mit.edu	37	5	90136535	90136535	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr5:90136535G>C	ENST00000405460.2	+	78	16848	c.16752G>C	c.(16750-16752)gaG>gaC	p.E5584D	GPR98_ENST00000425867.2_Missense_Mutation_p.E1245D	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5584					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAACGCCAGAGACAGGATCTT	0.428																																						uc003kju.2		NA																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(16750-16752)GAG>GAC		G protein-coupled receptor 98 precursor							194.0	188.0	189.0					5																	90136535		1882	4118	6000	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90136535G>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.16752G>C	5.37:g.90136535G>C	ENSP00000384582:p.Glu5584Asp					GPR98_uc003kjt.2_Missense_Mutation_p.E3290D|GPR98_uc003kjw.2_Missense_Mutation_p.E1245D	p.E5584D	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	78	16848	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5584			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.16752G>C	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.244089	0.22796	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.10192	2.9;2.9	6.16	-6.88	0.01665	.	0.439414	0.29565	N	0.011791	T	0.05960	0.0155	L	0.43923	1.385	0.21147	N	0.999773	B;B;B	0.09022	0.001;0.0;0.002	B;B;B	0.11329	0.003;0.002;0.006	T	0.23655	-1.0182	9	.	.	.	.	4.6699	0.12683	0.2054:0.4409:0.2361:0.1176	.	1245;5584;1245	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	D	5584;5584;1245	ENSP00000384582:E5584D;ENSP00000392618:E1245D	.	E	+	3	2	GPR98	90172291	0.002000	0.14202	0.000000	0.03702	0.991000	0.79684	-0.497000	0.06428	-2.012000	0.00950	0.650000	0.86243	GAG		0.428	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		28	190	0	0	0	0	28	190				
IRF1	3659	broad.mit.edu	37	5	131819736	131819736	+	Silent	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr5:131819736G>A	ENST00000245414.4	-	10	1143	c.885C>T	c.(883-885)ttC>ttT	p.F295F	IRF1_ENST00000405885.2_Silent_p.F295F|IRF1_ENST00000463784.1_5'Flank	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	295					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		TCAGATCTGTGAAGACACGCT	0.582																																						uc003kxa.2		NA																	0					0						c.(883-885)TTC>TTT		interferon regulatory factor 1							118.0	108.0	111.0					5																	131819736		2203	4300	6503	SO:0001819	synonymous_variant	3659				blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm		g.chr5:131819736G>A		CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"""interferon regulatory factor-1"""	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.885C>T	5.37:g.131819736G>A						C5orf56_uc010jds.1_Intron|IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Silent_p.F295F	p.F295F	NM_002198	NP_002189	P10914	IRF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)	10	1119	-		all_cancers(142;0.026)|Breast(839;0.198)	295					Q96GG7	Silent	SNP	ENST00000245414.4	37	c.885C>T	CCDS4155.1																																																																																				0.582	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132340.1	NM_002198		5	59	0	0	0	0	5	59				
ANKHD1	54882	broad.mit.edu	37	5	139885401	139885401	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr5:139885401G>C	ENST00000360839.2	+	18	3509	c.3355G>C	c.(3355-3357)Gaa>Caa	p.E1119Q	ANKHD1_ENST00000297183.6_Missense_Mutation_p.E1119Q|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.E1119Q	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1119						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCACAGTCTGAACGAACTAA	0.393																																						uc003lfs.1		NA																	0				ovary(6)	6						c.(3355-3357)GAA>CAA		ANKHD1-EIF4EBP3 protein							243.0	223.0	230.0					5																	139885401		2203	4300	6503	SO:0001583	missense	404734					cytoplasm|nucleus	RNA binding	g.chr5:139885401G>C	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.3355G>C	5.37:g.139885401G>C	ENSP00000354085:p.Glu1119Gln					ANKHD1_uc003lfq.1_Missense_Mutation_p.E1138Q|ANKHD1_uc003lfr.2_Missense_Mutation_p.E1119Q|ANKHD1_uc003lft.1_Missense_Mutation_p.E330Q|ANKHD1_uc003lfu.1_Missense_Mutation_p.E599Q|ANKHD1_uc003lfv.1_Missense_Mutation_p.E196Q	p.E1119Q	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		18	3479	+			1119					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.3355G>C	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	G	33	5.214308	0.95104	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000235510;ENST00000421134;ENST00000412116;ENST00000532219	T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37	5.53	5.53	0.82687	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.43765	0.1262	M	0.67569	2.06	0.80722	D	1	B;D;P;D;D	0.76494	0.417;0.967;0.745;0.999;0.999	B;D;P;D;D	0.83275	0.374;0.925;0.655;0.996;0.996	T	0.29366	-1.0014	10	0.72032	D	0.01	.	19.4529	0.94875	0.0:0.0:1.0:0.0	.	330;1119;1138;1119;1119	E7ET58;Q8IWZ3-4;E9PDP5;Q8IWZ2;Q8IWZ3	.;.;.;.;ANKH1_HUMAN	Q	1119;1152;1119;1119;653;330;1138;272;1119	ENSP00000354085:E1119Q;ENSP00000297183:E1119Q;ENSP00000394489:E1138Q;ENSP00000405602:E272Q;ENSP00000432016:E1119Q	ENSP00000432016:E1119Q	E	+	1	0	ANKHD1-EIF4EBP3;ANKHD1	139865585	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.869000	0.99810	2.595000	0.87683	0.655000	0.94253	GAA		0.393	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		17	149	0	0	0	0	17	149				
SLC26A2	1836	broad.mit.edu	37	5	149357721	149357721	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr5:149357721G>T	ENST00000286298.4	+	2	774	c.506G>T	c.(505-507)tGc>tTc	p.C169F		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	169					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.C169F(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGAGTACTGTGCCTTATGATT	0.448																																						uc003lrh.2		NA																	1	Substitution - Missense(1)		endometrium(1)		0						c.(505-507)TGC>TTC		solute carrier family 26 member 2							168.0	153.0	158.0					5																	149357721		2203	4300	6503	SO:0001583	missense	1836					integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity	g.chr5:149357721G>T	U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"""Solute carriers"""	10994	protein-coding gene	gene with protein product		606718	"""solute carrier family 26 (sulfate transporter), member 2"""	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.506G>T	5.37:g.149357721G>T	ENSP00000286298:p.Cys169Phe						p.C169F	NM_000112	NP_000103	P50443	S26A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		2	774	+			169			Helical; (Potential).		A8K2U3|B2R6J1|Q6N051	Missense_Mutation	SNP	ENST00000286298.4	37	c.506G>T	CCDS4300.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329286	0.81690	.	.	ENSG00000155850	ENST00000286298;ENST00000503336	D;D	0.91351	-2.83;-2.83	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.96116	0.8734	M	0.87827	2.91	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.96549	0.9406	10	0.87932	D	0	.	19.2279	0.93824	0.0:0.0:1.0:0.0	.	169	P50443	S26A2_HUMAN	F	169;60	ENSP00000286298:C169F;ENSP00000426053:C60F	ENSP00000286298:C169F	C	+	2	0	SLC26A2	149337914	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.525000	0.85131	0.655000	0.94253	TGC		0.448	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112		18	96	1	0	3.41e-10	6.12e-10	18	96				
MAS1L	116511	broad.mit.edu	37	6	29454874	29454874	+	Missense_Mutation	SNP	G	G	A	rs370775152		TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr6:29454874G>A	ENST00000377127.3	-	1	864	c.806C>T	c.(805-807)tCg>tTg	p.S269L		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	269					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S269L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						CATGGGGGCCGAGATCTGCAC	0.512																																					NSCLC(153;755 1987 3859 11251 32945)	uc011dlq.1		NA																	1	Substitution - Missense(1)		skin(1)	ovary(7)|lung(2)	9						c.(805-807)TCG>TTG		MAS1 oncogene-like		G	LEU/SER	0,4406		0,0,2203	36.0	39.0	38.0		806	-0.4	0.0	6		38	1,8599	1.2+/-3.3	0,1,4299	no	missense	MAS1L	NM_052967.1	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	269/379	29454874	1,13005	2203	4300	6503	SO:0001583	missense	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29454874G>A	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.806C>T	6.37:g.29454874G>A	ENSP00000366331:p.Ser269Leu						p.S269L	NM_052967	NP_443199	P35410	MAS1L_HUMAN			1	806	-			269			Helical; Name=6; (Potential).		Q5SUN5	Missense_Mutation	SNP	ENST00000377127.3	37	c.806C>T	CCDS4661.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.268675	0.23136	0.0	1.16E-4	ENSG00000204687	ENST00000377127	T	0.33654	1.4	2.23	-0.414	0.12359	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.13841	0.0335	L	0.31371	0.925	0.09310	N	1	P	0.38535	0.635	P	0.45577	0.486	T	0.21109	-1.0255	9	0.56958	D	0.05	.	5.1368	0.14939	0.0:0.1961:0.4777:0.3262	.	269	P35410	MAS1L_HUMAN	L	269	ENSP00000366331:S269L	ENSP00000366331:S269L	S	-	2	0	MAS1L	29562853	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.470000	0.22084	-0.311000	0.08754	0.498000	0.49722	TCG		0.512	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		7	37	0	0	0	0	7	37				
HLA-DOA	3111	broad.mit.edu	37	6	32974913	32974913	+	Silent	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr6:32974913G>A	ENST00000229829.5	-	4	768	c.693C>T	c.(691-693)ggC>ggT	p.G231G	HLA-DOA_ENST00000495532.1_5'Flank|HLA-DOA_ENST00000450833.2_Intron	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	231					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)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						CCACGAGGAAGCCCACCAGGC	0.627																																						uc003ocr.2		NA																	0					0						c.(691-693)GGC>GGT		major histocompatibility complex, class II, DO							63.0	66.0	65.0					6																	32974913		2203	4300	6503	SO:0001819	synonymous_variant	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.chr6:32974913G>A	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.693C>T	6.37:g.32974913G>A						HLA-DOA_uc010juj.2_Intron|HLA-DOA_uc010jui.2_3'UTR	p.G231G	NM_002119	NP_002110	P06340	DOA_HUMAN			4	769	-			231			Helical; (Potential).		Q58HU0|Q58HU1|Q5STC7|Q9TQC6|Q9TQC7|Q9TQC8|Q9TQC9|Q9TQD0|Q9TQD1|Q9TQD2|Q9TQD3	Silent	SNP	ENST00000229829.5	37	c.693C>T	CCDS4763.1																																																																																				0.627	HLA-DOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076426.2	NM_002119		17	107	0	0	0	0	17	107				
KLHL31	401265	broad.mit.edu	37	6	53516703	53516703	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr6:53516703A>G	ENST00000407079.1	-	2	1597	c.1598T>C	c.(1597-1599)cTc>cCc	p.L533P	KLHL31_ENST00000370905.3_Missense_Mutation_p.L533P			Q9H511	KLH31_HUMAN	kelch-like family member 31	533					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					CTCCACGGTGAGCACGTCCAC	0.736																																						uc003pcb.3		NA																	0				ovary(1)	1						c.(1597-1599)CTC>CCC		kelch repeat and BTB (POZ) domain containing 1							8.0	9.0	9.0					6																	53516703		2186	4249	6435	SO:0001583	missense	401265				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr6:53516703A>G		CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"""Kelch-like"", ""BTB/POZ domain containing"""	21353	protein-coding gene	gene with protein product		610749	"""kelch repeat and BTB (POZ) domain containing 1"", ""kelch-like 31 (Drosophila)"""	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.1598T>C	6.37:g.53516703A>G	ENSP00000384644:p.Leu533Pro					uc003pcc.1_Missense_Mutation_p.E32G	p.L533P	NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN			3	1739	-	Lung NSC(77;0.0158)		533			Kelch 5.		A6N9J2|B2RP49	Missense_Mutation	SNP	ENST00000407079.1	37	c.1598T>C	CCDS34478.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.032163	0.75504	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.77489	-1.1;-1.1	5.67	4.49	0.54785	Galactose oxidase, beta-propeller (1);	0.063504	0.64402	D	0.000007	T	0.78033	0.4220	M	0.62088	1.915	0.80722	D	1	D	0.57571	0.98	P	0.62491	0.903	T	0.76825	-0.2816	10	0.31617	T	0.26	.	12.3276	0.55020	0.8731:0.0:0.0:0.1269	.	533	Q9H511	KLH31_HUMAN	P	533	ENSP00000359942:L533P;ENSP00000384644:L533P	ENSP00000359942:L533P	L	-	2	0	KLHL31	53624662	1.000000	0.71417	0.842000	0.33263	0.952000	0.60782	9.264000	0.95635	1.062000	0.40625	-0.333000	0.08304	CTC		0.736	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	NM_001003760		3	17	0	0	0	0	3	17				
TRMT11	60487	broad.mit.edu	37	6	126334221	126334221	+	Silent	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr6:126334221C>T	ENST00000334379.5	+	11	1234	c.1113C>T	c.(1111-1113)gtC>gtT	p.V371V	TRMT11_ENST00000368332.3_Silent_p.V371V	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	371					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		GAAGACTAGTCTATTGGTTAC	0.343																																						uc003qam.2		NA																	0				ovary(1)	1						c.(1111-1113)GTC>GTT		tRNA methyltransferase 11							154.0	134.0	141.0					6																	126334221		2203	4300	6503	SO:0001819	synonymous_variant	60487				tRNA processing		methyltransferase activity|nucleic acid binding	g.chr6:126334221C>T	AF182423	CCDS35496.1	6q11.1-q22.33	2009-06-15	2006-11-28	2006-11-28	ENSG00000066651	ENSG00000066651			21080	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 75"""	C6orf75			Standard	XM_006715546		Approved	MDS024, dJ187J11.2, TRM11, TRMT11-1	uc003qam.3	Q7Z4G4	OTTHUMG00000015515	ENST00000334379.5:c.1113C>T	6.37:g.126334221C>T						TRMT11_uc003qan.2_RNA|TRMT11_uc010kev.2_Silent_p.V371V	p.V371V	NM_001031712	NP_001026882	Q7Z4G4	TRM11_HUMAN		GBM - Glioblastoma multiforme(226;0.0356)	11	1234	+			371					E1P570|Q5JY11|Q6PGQ5|Q9HC13	Silent	SNP	ENST00000334379.5	37	c.1113C>T	CCDS35496.1																																																																																				0.343	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_021820		7	30	0	0	0	0	7	30				
ARID1B	57492	broad.mit.edu	37	6	157505453	157505453	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr6:157505453A>G	ENST00000350026.5	+	12	3396	c.3395A>G	c.(3394-3396)tAt>tGt	p.Y1132C	ARID1B_ENST00000275248.4_Missense_Mutation_p.Y1127C|ARID1B_ENST00000367148.1_Missense_Mutation_p.Y1185C|ARID1B_ENST00000346085.5_Missense_Mutation_p.Y1145C	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1132	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AAAAAGCAGTATATTCAGTAC	0.517																																						uc003qqn.2		NA																	0				ovary(1)|breast(1)	2						c.(3379-3381)TAT>TGT		AT rich interactive domain 1B (SWI1-like)							89.0	85.0	87.0					6																	157505453		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157505453A>G	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.3395A>G	6.37:g.157505453A>G	ENSP00000055163:p.Tyr1132Cys					ARID1B_uc003qqo.2_Missense_Mutation_p.Y1087C|ARID1B_uc003qqp.2_Missense_Mutation_p.Y1074C|ARID1B_uc010kjl.2_Missense_Mutation_p.Y272C	p.Y1127C	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	13	3532	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1132			ARID.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.3380A>G	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	A	25.4	4.632531	0.87660	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000414678;ENST00000319584;ENST00000400790	T;T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.91	5.91	0.95273	ARID/BRIGHT DNA-binding domain (5);	0.000000	0.85682	D	0.000000	D	0.89646	0.6775	M	0.92923	3.36	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.92131	0.5712	10	0.87932	D	0	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	382;1132;1145;1127	Q8NFD5-4;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	C	1145;1132;1185;1127;602;654;607;199	ENSP00000344546:Y1145C;ENSP00000055163:Y1132C;ENSP00000356116:Y1185C;ENSP00000275248:Y1127C;ENSP00000412835:Y654C;ENSP00000313006:Y607C;ENSP00000383596:Y199C	ENSP00000275248:Y1127C	Y	+	2	0	ARID1B	157547145	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.329000	0.96413	2.254000	0.74563	0.533000	0.62120	TAT		0.517	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		13	53	0	0	0	0	13	53				
TULP4	56995	broad.mit.edu	37	6	158924402	158924402	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr6:158924402C>T	ENST00000367097.3	+	13	5064	c.3707C>T	c.(3706-3708)tCc>tTc	p.S1236F	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1236					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CCCAGCCTCTCCTATTGCACC	0.607																																						uc003qrf.2		NA																	0				ovary(1)	1						c.(3706-3708)TCC>TTC		tubby like protein 4 isoform 1							57.0	54.0	55.0					6																	158924402		2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158924402C>T		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.3707C>T	6.37:g.158924402C>T	ENSP00000356064:p.Ser1236Phe					TULP4_uc003qrg.2_Intron	p.S1236F	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	13	5064	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	1236					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.3707C>T	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745398	0.69418	.	.	ENSG00000130338	ENST00000367097	T	0.24151	1.87	5.08	5.08	0.68730	.	0.122703	0.56097	D	0.000028	T	0.22975	0.0555	L	0.43152	1.355	0.80722	D	1	P	0.39903	0.694	P	0.45037	0.467	T	0.02983	-1.1086	10	0.87932	D	0	-27.4778	18.6491	0.91423	0.0:1.0:0.0:0.0	.	1236	Q9NRJ4	TULP4_HUMAN	F	1236	ENSP00000356064:S1236F	ENSP00000356064:S1236F	S	+	2	0	TULP4	158844390	1.000000	0.71417	0.997000	0.53966	0.947000	0.59692	7.152000	0.77419	2.640000	0.89533	0.561000	0.74099	TCC		0.607	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		14	85	0	0	0	0	14	85				
DNAH11	8701	broad.mit.edu	37	7	21775391	21775391	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr7:21775391C>T	ENST00000409508.3	+	46	7605	c.7574C>T	c.(7573-7575)gCa>gTa	p.A2525V	DNAH11_ENST00000328843.6_Missense_Mutation_p.A2532V	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2532	AAA 3. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GACACATTGGCAAGTCTCTCT	0.413									Kartagener syndrome																													uc003svc.2		NA																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(7594-7596)GCA>GTA		dynein, axonemal, heavy chain 11							172.0	171.0	172.0					7																	21775391		1923	4136	6059	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21775391C>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.7574C>T	7.37:g.21775391C>T	ENSP00000475939:p.Ala2525Val						p.A2532V	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			47	7626	+			2532			AAA 3 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.7595C>T		.	.	.	.	.	.	.	.	.	.	C	7.293	0.611401	0.14066	.	.	ENSG00000105877	ENST00000328843	T	0.41400	1.0	5.03	4.15	0.48705	ATPase, AAA+ type, core (1);	0.591792	0.18547	N	0.138031	T	0.46328	0.1387	.	.	.	0.24871	N	0.992283	P	0.50528	0.936	P	0.51487	0.671	T	0.29243	-1.0018	9	0.32370	T	0.25	.	11.6085	0.51045	0.1394:0.7262:0.1344:0.0	.	2532	Q96DT5	DYH11_HUMAN	V	2532	ENSP00000330671:A2532V	ENSP00000330671:A2532V	A	+	2	0	DNAH11	21741916	0.144000	0.22641	0.027000	0.17364	0.007000	0.05969	0.945000	0.29056	1.263000	0.44181	-0.127000	0.14921	GCA		0.413	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		9	88	0	0	0	0	9	88				
BMPER	168667	broad.mit.edu	37	7	34125426	34125426	+	Silent	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr7:34125426C>G	ENST00000297161.2	+	14	1841	c.1467C>G	c.(1465-1467)ctC>ctG	p.L489L	BMPER_ENST00000426693.1_Silent_p.L489L	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	489	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CGCCGCATCTCAAGGGCAAGC	0.433																																						uc011kap.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1465-1467)CTC>CTG		BMP-binding endothelial regulator precursor							119.0	105.0	110.0					7																	34125426		2203	4300	6503	SO:0001819	synonymous_variant	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34125426C>G		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1467C>G	7.37:g.34125426C>G							p.L489L	NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN			13	1581	+			489			VWFD.		A8K1P8|Q8TF36	Silent	SNP	ENST00000297161.2	37	c.1467C>G	CCDS5442.1																																																																																				0.433	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		9	43	0	0	0	0	9	43				
SUN3	256979	broad.mit.edu	37	7	48035654	48035654	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr7:48035654C>G	ENST00000297325.4	-	7	826	c.667G>C	c.(667-669)Gaa>Caa	p.E223Q	SUN3_ENST00000412142.1_Missense_Mutation_p.E123Q|SUN3_ENST00000453192.2_Missense_Mutation_p.E211Q|SUN3_ENST00000473723.1_5'UTR|SUN3_ENST00000395572.2_Missense_Mutation_p.E223Q	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	223	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.					integral component of membrane (GO:0016021)|SUN-KASH complex (GO:0034993)		p.E223K(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGAGGCATTTCATGATTTAGG	0.284																																						uc003tof.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(667-669)GAA>CAA		Sad1 and UNC84 domain containing 1							80.0	85.0	83.0					7																	48035654		2203	4292	6495	SO:0001583	missense	256979					integral to membrane		g.chr7:48035654C>G	AF429967	CCDS34636.1, CCDS64647.1	7p12.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164744	ENSG00000164744			22429	protein-coding gene	gene with protein product			"""Sad1 and UNC84 domain containing 1"""	SUNC1			Standard	NM_001284350		Approved	MGC33329	uc003tof.3	Q8TAQ9	OTTHUMG00000155646	ENST00000297325.4:c.667G>C	7.37:g.48035654C>G	ENSP00000297325:p.Glu223Gln					SUN3_uc010kyq.2_Missense_Mutation_p.E123Q|SUN3_uc003tog.2_Missense_Mutation_p.E223Q|SUN3_uc011kcf.1_Missense_Mutation_p.E211Q	p.E223Q	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN			8	764	-			223			SUN.		A4D2F3|B4DXK1|D3DVM3|E7EWC8|Q4F965|Q7Z4U8	Missense_Mutation	SNP	ENST00000297325.4	37	c.667G>C	CCDS34636.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.96|17.96	3.515018|3.515018	0.64634|0.64634	.|.	.|.	ENSG00000164744|ENSG00000164744	ENST00000297325;ENST00000412371;ENST00000412142;ENST00000395572;ENST00000453192;ENST00000438771|ENST00000453071	T;T;T;T;T;T|.	0.44881|.	0.91;0.91;0.91;0.91;0.91;0.91|.	5.25|5.25	5.25|5.25	0.73442|0.73442	Sad1/UNC-like, C-terminal (2);|.	0.268407|.	0.38272|.	N|.	0.001754|.	T|T	0.52191|0.52191	0.1719|0.1719	L|L	0.38175|0.38175	1.15|1.15	0.32657|0.32657	N|N	0.518614|0.518614	D;D;D|.	0.76494|.	0.99;0.999;0.999|.	P;D;D|.	0.74674|.	0.86;0.958;0.984|.	T|T	0.59820|0.59820	-0.7382|-0.7382	10|5	0.72032|.	D|.	0.01|.	.|.	14.4091|14.4091	0.67103|0.67103	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	211;123;223|.	E7EWC8;Q8TAQ9-2;Q8TAQ9|.	.;.;SUN3_HUMAN|.	Q|I	223;45;123;223;211;123|146	ENSP00000297325:E223Q;ENSP00000406887:E45Q;ENSP00000410204:E123Q;ENSP00000378939:E223Q;ENSP00000387525:E211Q;ENSP00000409077:E123Q|.	ENSP00000297325:E223Q|.	E|M	-|-	1|3	0|0	SUN3|SUN3	48002179|48002179	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.495000|4.495000	0.60353|0.60353	2.489000|2.489000	0.83994|0.83994	0.650000|0.650000	0.86243|0.86243	GAA|ATG		0.284	SUN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340962.1	NM_152782		11	73	0	0	0	0	11	73				
ELN	2006	broad.mit.edu	37	7	73466086	73466086	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr7:73466086G>C	ENST00000252034.7	+	16	1205	c.806G>C	c.(805-807)gGa>gCa	p.G269A	ELN_ENST00000458204.1_Missense_Mutation_p.G259A|ELN_ENST00000357036.5_Missense_Mutation_p.G274A|ELN_ENST00000380553.4_Missense_Mutation_p.G152A|ELN_ENST00000380584.4_Missense_Mutation_p.G255A|ELN_ENST00000380575.4_Missense_Mutation_p.G259A|ELN_ENST00000429192.1_Missense_Mutation_p.G274A|ELN_ENST00000320399.6_Missense_Mutation_p.G269A|ELN_ENST00000414324.1_Missense_Mutation_p.G264A|ELN_ENST00000358929.4_Missense_Mutation_p.G269A|ELN_ENST00000445912.1_Missense_Mutation_p.G269A|ELN_ENST00000380562.4_Missense_Mutation_p.G269A|ELN_ENST00000320492.7_Missense_Mutation_p.G233A|ELN_ENST00000380576.5_Missense_Mutation_p.G269A	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	269	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				ACAGGTGCTGGAGCAGCCGGA	0.597			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""				OREG0018112	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003tzw.2		NA		Dom	yes		7	7q11.23	2006	T	elastin	yes	Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome	L	PAX5		B-ALL		0				ovary(3)|pancreas(2)	5						c.(805-807)GGA>GCA		elastin isoform a precursor	Rofecoxib(DB00533)						88.0	67.0	74.0					7																	73466086		2203	4300	6503	SO:0001583	missense	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73466086G>C		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.806G>C	7.37:g.73466086G>C	ENSP00000252034:p.Gly269Ala		OREG0018112	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1145	RFC2_uc011kfa.1_Intron|ELN_uc003tzm.1_RNA|ELN_uc011kfe.1_Missense_Mutation_p.G238A|ELN_uc003tzn.2_Missense_Mutation_p.G269A|ELN_uc003tzz.2_Missense_Mutation_p.G233A|ELN_uc003tzo.2_Missense_Mutation_p.G255A|ELN_uc003tzp.2_Missense_Mutation_p.G225A|ELN_uc003tzq.2_Missense_Mutation_p.G152A|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_Missense_Mutation_p.G269A|ELN_uc003tzt.2_Missense_Mutation_p.G274A|ELN_uc003tzu.2_Missense_Mutation_p.G274A|ELN_uc003tzv.2_Missense_Mutation_p.G259A|ELN_uc003tzx.2_Missense_Mutation_p.G259A|ELN_uc011kff.1_Missense_Mutation_p.G269A|ELN_uc003tzy.2_Missense_Mutation_p.G264A	p.G269A	NM_000501	NP_001075224	P15502	ELN_HUMAN			16	897	+		Lung NSC(55;0.159)	269			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000252034.7	37	c.806G>C	CCDS5562.2	.	.	.	.	.	.	.	.	.	.	G	9.246	1.039471	0.19669	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000320492;ENST00000438906;ENST00000438880;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000429192;ENST00000442462;ENST00000380553;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.52526	1.23;1.23;1.33;1.29;0.86;0.66;1.28;1.24;1.41;1.33;1.25;1.22;1.32;1.35;1.33;1.19	4.74	0.573	0.17363	.	.	.	.	.	T	0.35740	0.0942	L	0.27053	0.805	0.33184	D	0.549991	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.16396	0.017;0.006;0.017;0.017;0.017;0.017;0.017;0.017;0.017;0.017;0.017;0.017;0.017;0.017	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.17098	0.017;0.007;0.017;0.017;0.017;0.017;0.017;0.017;0.017;0.017;0.017;0.017;0.017;0.017	T	0.35847	-0.9772	9	0.41790	T	0.15	-0.2854	14.9664	0.71198	0.0:0.6278:0.3722:0.0	.	269;238;233;264;259;269;259;274;274;269;152;225;255;269	E7ENM0;E9PBM4;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.;.	A	269;269;269;233;247;130;264;269;259;255;259;274;274;238;152;269;269	ENSP00000389857:G269A;ENSP00000252034:G269A;ENSP00000351807:G269A;ENSP00000315607:G233A;ENSP00000406949:G247A;ENSP00000389206:G130A;ENSP00000392575:G264A;ENSP00000369936:G269A;ENSP00000369949:G259A;ENSP00000369958:G255A;ENSP00000403162:G259A;ENSP00000349540:G274A;ENSP00000391129:G274A;ENSP00000369926:G152A;ENSP00000369950:G269A;ENSP00000313565:G269A	ENSP00000252034:G269A	G	+	2	0	ELN	73104022	0.936000	0.31750	0.962000	0.40283	0.920000	0.55202	0.106000	0.15354	-0.089000	0.12484	0.545000	0.68477	GGA		0.597	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		4	34	0	0	0	0	4	34				
ZNF804B	219578	broad.mit.edu	37	7	88964913	88964913	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr7:88964913G>A	ENST00000333190.4	+	4	3226	c.2617G>A	c.(2617-2619)Gag>Aag	p.E873K		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	873							metal ion binding (GO:0046872)	p.E873*(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GAGAAATCAAGAGTCTTTGGG	0.428										HNSCC(36;0.09)																												uc011khi.1		NA																	1	Substitution - Nonsense(1)		breast(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(2617-2619)GAG>AAG		zinc finger protein 804B							60.0	63.0	62.0					7																	88964913		2203	4299	6502	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88964913G>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2617G>A	7.37:g.88964913G>A	ENSP00000329638:p.Glu873Lys	HNSCC(36;0.09)					p.E873K	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	3155	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		873					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.2617G>A	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	2.121	-0.401358	0.04865	.	.	ENSG00000182348	ENST00000333190	T	0.04654	3.58	4.95	1.07	0.20283	.	0.847807	0.10347	N	0.685616	T	0.02012	0.0063	N	0.11560	0.145	0.09310	N	1	B	0.21071	0.051	B	0.14578	0.011	T	0.46484	-0.9188	10	0.02654	T	1	-0.016	3.7282	0.08482	0.1504:0.3206:0.4167:0.1123	.	873	A4D1E1	Z804B_HUMAN	K	873	ENSP00000329638:E873K	ENSP00000329638:E873K	E	+	1	0	ZNF804B	88802849	0.002000	0.14202	0.001000	0.08648	0.022000	0.10575	0.788000	0.26872	0.015000	0.14971	0.655000	0.94253	GAG		0.428	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		8	60	0	0	0	0	8	60				
CCDC132	55610	broad.mit.edu	37	7	92987685	92987685	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr7:92987685C>G	ENST00000305866.5	+	28	2960	c.2832C>G	c.(2830-2832)atC>atG	p.I944M	CCDC132_ENST00000535481.1_Missense_Mutation_p.I664M|CCDC132_ENST00000544910.1_Missense_Mutation_p.I914M|CCDC132_ENST00000541136.1_3'UTR	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	944						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GATCCCATATCAATAAGAAAG	0.383																																						uc003umo.2		NA																	0					0						c.(2830-2832)ATC>ATG		coiled-coil domain containing 132 isoform a							142.0	131.0	134.0					7																	92987685		1835	4092	5927	SO:0001583	missense	55610							g.chr7:92987685C>G	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.2832C>G	7.37:g.92987685C>G	ENSP00000307666:p.Ile944Met					CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.I914M|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.I664M	p.I944M	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		28	2960	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		944					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.2832C>G	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.400388	0.42613	.	.	ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000535481	.	.	.	5.42	3.6	0.41247	Protein of unknown function DUF2451, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67449	0.2894	L	0.47716	1.5	0.80722	D	1	D;D;D	0.62365	0.991;0.988;0.991	D;D;D	0.75484	0.986;0.977;0.986	T	0.64829	-0.6315	9	0.39692	T	0.17	-11.7548	12.7059	0.57060	0.0:0.8636:0.0:0.1364	.	664;914;944	B4DS55;F5H5U7;Q96JG6	.;.;CC132_HUMAN	M	944;914;664	.	ENSP00000307666:I944M	I	+	3	3	CCDC132	92825621	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.198000	0.42705	0.760000	0.33108	-0.156000	0.13503	ATC		0.383	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		12	77	0	0	0	0	12	77				
ZAN	7455	broad.mit.edu	37	7	100345255	100345255	+	RNA	SNP	A	A	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr7:100345255A>G	ENST00000348028.3	+	0	1179				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CAGCCGTGGGACGGATACAGG	0.527																																						uc003uwj.2		NA																	0				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(1012-1014)GGA>GGG		zonadhesin isoform 3							86.0	80.0	82.0					7																	100345255		1939	4133	6072			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100345255A>G	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100345255A>G						ZAN_uc003uwk.2_Silent_p.G338G|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	p.G338G	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		9	1179	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		338			MAM 2.|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	ENST00000348028.3	37	c.1014A>G																																																																																					0.527	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		3	58	0	0	0	0	3	58				
GPR37	2861	broad.mit.edu	37	7	124404013	124404013	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr7:124404013T>C	ENST00000303921.2	-	1	1668	c.1018A>G	c.(1018-1020)Ata>Gta	p.I340V		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	340					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATTACCTCTATATAGGGCACG	0.498																																						uc003vli.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1018-1020)ATA>GTA		G protein-coupled receptor 37 precursor							142.0	157.0	152.0					7																	124404013		2203	4300	6503	SO:0001583	missense	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124404013T>C		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1018A>G	7.37:g.124404013T>C	ENSP00000306449:p.Ile340Val						p.I340V	NM_005302	NP_005293	O15354	GPR37_HUMAN			1	1669	-			340			Helical; Name=3; (Potential).		A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	c.1018A>G	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	T	10.28	1.306754	0.23736	.	.	ENSG00000170775	ENST00000303921	T	0.37058	1.22	5.25	1.43	0.22495	GPCR, rhodopsin-like superfamily (1);	0.080279	0.50627	D	0.000118	T	0.21590	0.0520	N	0.21373	0.66	0.40357	D	0.979197	B	0.20261	0.043	B	0.20184	0.028	T	0.05649	-1.0872	10	0.34782	T	0.22	-20.6441	8.4312	0.32759	0.0:0.0728:0.2575:0.6697	.	340	O15354	GPR37_HUMAN	V	340	ENSP00000306449:I340V	ENSP00000306449:I340V	I	-	1	0	GPR37	124191249	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	1.600000	0.36762	0.429000	0.26202	0.523000	0.50628	ATA		0.498	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		34	211	0	0	0	0	34	211				
POT1	25913	broad.mit.edu	37	7	124503478	124503479	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr7:124503478_124503479GC>AA	ENST00000357628.3	-	8	1069_1070	c.471_472GC>TT	c.(469-474)caGCca>caTTca	p.157_158QP>HS	POT1_ENST00000393329.1_Missense_Mutation_p.26_27QP>HS	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	157					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TACTGCATTGGCTGAACATCAC	0.406																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	uc003vlm.2		NA																	0				central_nervous_system(1)	1						c.(469-474)CAGCCA>CATTCA		protection of telomeres 1 isoform 1																																				SO:0001583	missense	25913				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	g.chr7:124503478_124503479GC>AA	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.471_472delinsAA	7.37:g.124503478_124503479delinsAA	ENSP00000350249:p.Q157_P158delinsHS					POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Missense_Mutation_p.26_27QP>HS|POT1_uc003vln.2_RNA	p.157_158QP>HS	NM_015450	NP_056265	Q9NUX5	POTE1_HUMAN			8	1072_1073	-			157_158					O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	DNP	ENST00000357628.3	37	c.471_472GC>TT	CCDS5793.1																																																																																				0.406	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1			11	79	0	0	0	0	11	79				
ATP6V0A4	50617	broad.mit.edu	37	7	138429966	138429966	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr7:138429966G>C	ENST00000310018.2	-	14	1662	c.1380C>G	c.(1378-1380)atC>atG	p.I460M	ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.I460M|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.I460M	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	460					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AACCCGTGTAGATGGAGAAGA	0.488																																						uc003vuf.2		NA																	0				pancreas(1)	1						c.(1378-1380)ATC>ATG		ATPase, H+ transporting, lysosomal V0 subunit							197.0	176.0	183.0					7																	138429966		2203	4300	6503	SO:0001583	missense	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138429966G>C	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.1380C>G	7.37:g.138429966G>C	ENSP00000308122:p.Ile460Met					ATP6V0A4_uc003vug.2_Missense_Mutation_p.I460M|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.I460M	p.I460M	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN			13	1618	-			460			Helical; (Potential).		A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	ENST00000310018.2	37	c.1380C>G	CCDS5849.1	.	.	.	.	.	.	.	.	.	.	G	8.848	0.943897	0.18281	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.89123	-2.47;-2.47;-2.47	5.7	3.77	0.43336	.	0.073970	0.56097	D	0.000030	D	0.83110	0.5183	L	0.39326	1.205	0.44843	D	0.997855	P	0.44090	0.826	P	0.44359	0.447	T	0.77664	-0.2503	10	0.17832	T	0.49	-34.8212	7.7661	0.28980	0.1645:0.1422:0.6933:0.0	.	460	Q9HBG4	VPP4_HUMAN	M	460	ENSP00000308122:I460M;ENSP00000376774:I460M;ENSP00000253856:I460M	ENSP00000308122:I460M	I	-	3	3	ATP6V0A4	138080506	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.369000	0.20416	1.272000	0.44329	0.655000	0.94253	ATC		0.488	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		9	88	0	0	0	0	9	88				
KCNB2	9312	broad.mit.edu	37	8	73849039	73849039	+	Silent	SNP	C	C	T	rs555669570		TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr8:73849039C>T	ENST00000523207.1	+	3	2037	c.1449C>T	c.(1447-1449)gaC>gaT	p.D483D		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	483					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	ACTCCGCCGACGATAATCACC	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		16505	0.0		0.0	False		,,,				2504	0.001					uc003xzb.2		NA																	0				skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(1447-1449)GAC>GAT		potassium voltage-gated channel, Shab-related							79.0	87.0	84.0					8																	73849039		2203	4300	6503	SO:0001819	synonymous_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849039C>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1449C>T	8.37:g.73849039C>T							p.D483D	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2037	+	Breast(64;0.137)		483			Cytoplasmic (Potential).		Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	c.1449C>T	CCDS6209.1																																																																																				0.512	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		13	111	0	0	0	0	13	111				
RBM12B	389677	broad.mit.edu	37	8	94746869	94746869	+	Silent	SNP	A	A	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr8:94746869A>G	ENST00000399300.2	-	3	1983	c.1770T>C	c.(1768-1770)ccT>ccC	p.P590P	RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000517700.1_Silent_p.P590P	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	590							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CCTCCTCAGAAGGCCGCCTGA	0.617																																						uc003yfz.2		NA																	0					0						c.(1768-1770)CCT>CCC		RNA binding motif protein 12B							50.0	51.0	51.0					8																	94746869		1837	4079	5916	SO:0001819	synonymous_variant	389677						nucleotide binding|RNA binding	g.chr8:94746869A>G		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.1770T>C	8.37:g.94746869A>G							p.P590P	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	1963	-	Breast(36;4.14e-07)		590					A8MYB5	Silent	SNP	ENST00000399300.2	37	c.1770T>C	CCDS43755.1																																																																																				0.617	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		21	81	0	0	0	0	21	81				
ZC3H3	23144	broad.mit.edu	37	8	144620188	144620188	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr8:144620188C>T	ENST00000262577.5	-	2	1380	c.1349G>A	c.(1348-1350)aGa>aAa	p.R450K		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	450					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GCTGCTGCGTCTCCGGATGAT	0.617																																						uc003yyd.2		NA																	0				skin(1)	1						c.(1348-1350)AGA>AAA		zinc finger CCCH-type containing 3							48.0	52.0	51.0					8																	144620188		2203	4300	6503	SO:0001583	missense	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144620188C>T	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.1349G>A	8.37:g.144620188C>T	ENSP00000262577:p.Arg450Lys						p.R450K	NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		2	1378	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		450					Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	ENST00000262577.5	37	c.1349G>A	CCDS6402.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.512323	0.44660	.	.	ENSG00000014164	ENST00000262577	T	0.03607	3.87	5.31	4.43	0.53597	.	0.148371	0.45606	N	0.000348	T	0.15003	0.0362	M	0.72894	2.215	0.30826	N	0.737209	D	0.69078	0.997	D	0.72625	0.978	T	0.01635	-1.1307	10	0.66056	D	0.02	-27.9472	11.2372	0.48946	0.0:0.8521:0.0:0.1479	.	450	Q8IXZ2	ZC3H3_HUMAN	K	450	ENSP00000262577:R450K	ENSP00000262577:R450K	R	-	2	0	ZC3H3	144691331	0.624000	0.27102	0.350000	0.25708	0.185000	0.23345	2.041000	0.41213	1.243000	0.43853	0.561000	0.74099	AGA		0.617	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		9	85	0	0	0	0	9	85				
ZNF7	7553	broad.mit.edu	37	8	146067676	146067676	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr8:146067676C>G	ENST00000528372.1	+	5	1424	c.1184C>G	c.(1183-1185)tCa>tGa	p.S395*	ZNF7_ENST00000544249.1_Nonsense_Mutation_p.S299*|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000325241.6_Nonsense_Mutation_p.S395*|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000446747.2_Nonsense_Mutation_p.S406*			P17097	ZNF7_HUMAN	zinc finger protein 7	395					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		CTAAAAGCCTCAGACAGTCCA	0.493																																						uc003zeg.3		NA																	0				ovary(4)	4						c.(1183-1185)TCA>TGA		zinc finger protein 7							72.0	71.0	71.0					8																	146067676		2203	4299	6502	SO:0001587	stop_gained	7553				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146067676C>G	AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"""Zinc fingers, C2H2-type"", ""-"""	13139	protein-coding gene	gene with protein product		194531	"""zinc finger protein 7 (KOX 4, clone HF.16)"""			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.1184C>G	8.37:g.146067676C>G	ENSP00000432724:p.Ser395*					ZNF7_uc010mge.2_Nonsense_Mutation_p.S406*|ZNF7_uc011lln.1_Nonsense_Mutation_p.S299*|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.3_Nonsense_Mutation_p.S299*|COMMD5_uc003zel.1_Intron	p.S395*	NM_003416	NP_003407	P17097	ZNF7_HUMAN	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)	5	1321	+	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	395					B4DT08|D3DWN6|P17015|Q8N8Y4	Nonsense_Mutation	SNP	ENST00000528372.1	37	c.1184C>G	CCDS6435.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957895	0.53400	.	.	ENSG00000147789	ENST00000325241;ENST00000446747;ENST00000544249;ENST00000528372	.	.	.	4.79	1.61	0.23674	.	0.761780	0.11265	N	0.582130	.	.	.	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2906	5.3912	0.16245	0.0:0.6331:0.1605:0.2064	.	.	.	.	X	395;406;299;395	.	.	S	+	2	0	ZNF7	146038480	.	.	0.004000	0.12327	0.228000	0.25075	.	.	0.520000	0.28426	0.561000	0.74099	TCA		0.493	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382660.1	NM_003416		7	79	0	0	0	0	7	79				
KANK1	23189	broad.mit.edu	37	9	711776	711776	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr9:711776G>A	ENST00000382303.1	+	7	1662	c.1010G>A	c.(1009-1011)cGg>cAg	p.R337Q	KANK1_ENST00000382297.2_Missense_Mutation_p.R337Q|KANK1_ENST00000382293.3_Missense_Mutation_p.R179Q|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	337	Interaction with KIF21A.				negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CAGCTCTCCCGGGCCCGAAGA	0.537																																						uc003zgl.1		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1009-1011)CGG>CAG		KN motif and ankyrin repeat domains 1 isoform a							55.0	61.0	59.0					9																	711776		2203	4300	6503	SO:0001583	missense	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:711776G>A	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.1010G>A	9.37:g.711776G>A	ENSP00000371740:p.Arg337Gln					KANK1_uc003zgm.2_Missense_Mutation_p.R337Q|KANK1_uc003zgn.1_Missense_Mutation_p.R337Q|KANK1_uc003zgo.1_Missense_Mutation_p.R337Q|KANK1_uc003zgp.1_Missense_Mutation_p.R337Q|KANK1_uc003zgq.2_Missense_Mutation_p.R179Q|KANK1_uc003zgr.1_Missense_Mutation_p.R179Q|KANK1_uc003zgs.1_Missense_Mutation_p.R179Q	p.R337Q	NM_015158	NP_055973	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	7	1659	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	337					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	ENST00000382303.1	37	c.1010G>A	CCDS34976.1	.	.	.	.	.	.	.	.	.	.	G	4.034	0.003942	0.07866	.	.	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297;ENST00000382293	T;T;T	0.00873	5.59;5.59;5.59	5.8	1.47	0.22746	.	0.512097	0.17692	N	0.165238	T	0.00666	0.0022	N	0.17872	0.535	0.09310	N	0.999999	B;B	0.17465	0.022;0.022	B;B	0.08055	0.002;0.003	T	0.47636	-0.9102	10	0.11794	T	0.64	-0.018	6.3777	0.21517	0.3811:0.176:0.4429:0.0	.	337;337	Q5W0W1;Q14678	.;KANK1_HUMAN	Q	337;337;337;179	ENSP00000371740:R337Q;ENSP00000371734:R337Q;ENSP00000371730:R179Q	ENSP00000346479:R337Q	R	+	2	0	KANK1	701776	0.777000	0.28628	0.988000	0.46212	0.265000	0.26407	0.538000	0.23160	0.337000	0.23665	-0.219000	0.12488	CGG		0.537	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		8	91	0	0	0	0	8	91				
TAF1L	138474	broad.mit.edu	37	9	32632974	32632974	+	Silent	SNP	G	G	A	rs146604611		TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr9:32632974G>A	ENST00000242310.4	-	1	2693	c.2604C>T	c.(2602-2604)tgC>tgT	p.C868C	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	868					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGAAGTCAGCGCAGAGCTTTA	0.468													g|||	1	0.000199681	0.0008	0.0	5008	,	,		20492	0.0		0.0	False		,,,				2504	0.0					uc003zrg.1		NA																	0				lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(2602-2604)TGC>TGT		TBP-associated factor RNA polymerase 1-like		A		8,4398	14.3+/-33.2	0,8,2195	133.0	136.0	135.0		2604	-2.4	1.0	9	dbSNP_134	135	0,8600		0,0,4300	no	coding-synonymous	TAF1L	NM_153809.2		0,8,6495	AA,AG,GG		0.0,0.1816,0.0615		868/1827	32632974	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32632974G>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2604C>T	9.37:g.32632974G>A						uc003zrh.1_5'Flank	p.C868C	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	2694	-			868					Q0VG57	Silent	SNP	ENST00000242310.4	37	c.2604C>T	CCDS35003.1																																																																																				0.468	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			20	154	0	0	0	0	20	154				
UNC13B	10497	broad.mit.edu	37	9	35231142	35231142	+	Silent	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr9:35231142G>A	ENST00000378495.3	+	3	300	c.78G>A	c.(76-78)ctG>ctA	p.L26L	UNC13B_ENST00000396787.1_Silent_p.L26L|UNC13B_ENST00000378496.4_Silent_p.L26L	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	26	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			ATGTGACCCTGAAAGTACAGA	0.393																																						uc003zwq.2		NA																	0				ovary(3)|large_intestine(1)|skin(1)	5						c.(76-78)CTG>CTA		UNC13 (C. elegans)-like							110.0	97.0	101.0					9																	35231142		2203	4300	6503	SO:0001819	synonymous_variant	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35231142G>A	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.78G>A	9.37:g.35231142G>A						UNC13B_uc010mkl.1_Silent_p.L26L|UNC13B_uc003zwr.2_Silent_p.L26L	p.L26L	NM_006377	NP_006368	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		3	370	+	all_epithelial(49;0.212)		26			C2 1.		Q5VYM8	Silent	SNP	ENST00000378495.3	37	c.78G>A	CCDS6579.1																																																																																				0.393	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		5	33	0	0	0	0	5	33				
ZNF782	158431	broad.mit.edu	37	9	99581236	99581236	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr9:99581236G>A	ENST00000481138.1	-	6	1730	c.1069C>T	c.(1069-1071)Cag>Tag	p.Q357*	ZNF782_ENST00000535338.1_Nonsense_Mutation_p.Q225*|ZNF782_ENST00000466833.1_5'Flank	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	357					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TGAACCTTCTGATGTACACTG	0.418																																						uc004awp.1		NA																	0					0						c.(1069-1071)CAG>TAG		zinc finger protein 782							157.0	147.0	150.0					9																	99581236		2203	4300	6503	SO:0001587	stop_gained	158431				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99581236G>A	AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"""Zinc fingers, C2H2-type"", ""-"""	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.1069C>T	9.37:g.99581236G>A	ENSP00000419397:p.Gln357*					ZNF782_uc011lup.1_Nonsense_Mutation_p.Q225*	p.Q357*	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN			6	1350	-		Acute lymphoblastic leukemia(62;0.0527)	357			C2H2-type 3; degenerate.		B2RNR0	Nonsense_Mutation	SNP	ENST00000481138.1	37	c.1069C>T	CCDS35075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.62|13.62	2.292225|2.292225	0.40594|0.40594	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000481138;ENST00000535338|ENST00000289032	.|.	.|.	.|.	3.57|3.57	1.57|1.57	0.23409|0.23409	.|.	1.150290|.	0.06838|.	N|.	0.795109|.	.|T	.|0.58438	.|0.2122	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.52909	.|-0.8512	.|4	0.51188|.	T|.	0.08|.	.|.	10.0677|10.0677	0.42315|0.42315	0.0:0.0:0.6146:0.3854|0.0:0.0:0.6146:0.3854	.|.	.|.	.|.	.|.	X|L	357;225|345	.|.	ENSP00000419397:Q357X|.	Q|S	-|-	1|2	0|0	ZNF782|ZNF782	98621057|98621057	0.091000|0.091000	0.21658|0.21658	0.014000|0.014000	0.15608|0.15608	0.047000|0.047000	0.14425|0.14425	0.198000|0.198000	0.17217|0.17217	0.432000|0.432000	0.26286|0.26286	0.644000|0.644000	0.83932|0.83932	CAG|TCA		0.418	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662		31	200	0	0	0	0	31	200				
RABEPK	10244	broad.mit.edu	37	9	127990196	127990196	+	Silent	SNP	G	G	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr9:127990196G>T	ENST00000373538.3	+	6	844	c.534G>T	c.(532-534)ctG>ctT	p.L178L	RABEPK_ENST00000259460.8_Silent_p.L127L|RABEPK_ENST00000394125.4_Silent_p.L178L|RABEPK_ENST00000394124.4_3'UTR	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	178					receptor-mediated endocytosis (GO:0006898)|vesicle docking involved in exocytosis (GO:0006904)	endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						TAGACACTCTGACCTGGTCAC	0.483																																						uc004bpi.2		NA																	0				ovary(1)	1						c.(532-534)CTG>CTT		Rab9 effector protein with kelch motifs							77.0	74.0	75.0					9																	127990196		2203	4300	6503	SO:0001819	synonymous_variant	10244				receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane		g.chr9:127990196G>T	BC000503	CCDS6862.1, CCDS55341.1	9q33.1-q33.3	2010-04-19			ENSG00000136933	ENSG00000136933			16896	protein-coding gene	gene with protein product		605962				9230071	Standard	NM_005833		Approved	RAB9P40, bA65N13.1	uc004bpi.3	Q7Z6M1	OTTHUMG00000020674	ENST00000373538.3:c.534G>T	9.37:g.127990196G>T						RABEPK_uc004bpj.2_Silent_p.L127L|RABEPK_uc004bpk.2_Silent_p.L178L|RABEPK_uc004bpl.1_Silent_p.L127L|RABEPK_uc004bpm.2_Silent_p.L178L	p.L178L	NM_005833	NP_005824	Q7Z6M1	RABEK_HUMAN			7	707	+			178			Kelch 3.		A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	Silent	SNP	ENST00000373538.3	37	c.534G>T	CCDS6862.1																																																																																				0.483	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054064.1	NM_005833		10	68	1	0	9.7e-10	1.74e-09	10	68				
SLC25A25	114789	broad.mit.edu	37	9	130863479	130863479	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr9:130863479G>C	ENST00000373064.5	+	2	527	c.264G>C	c.(262-264)aaG>aaC	p.K88N	SLC25A25_ENST00000373066.5_Missense_Mutation_p.K108N|SLC25A25_ENST00000433501.1_5'UTR|SLC25A25_ENST00000373069.5_Missense_Mutation_p.K122N|SLC25A25_ENST00000432073.2_Missense_Mutation_p.K108N|SLC25A25_ENST00000373068.2_Missense_Mutation_p.K122N	NM_052901.4	NP_443133.2	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	88	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						TGGTGTTTAAGAGTTTGGACA	0.512																																						uc004bte.2		NA																	0					0						c.(262-264)AAG>AAC		solute carrier family 25, member 25 isoform a							110.0	114.0	113.0					9																	130863479		2203	4300	6503	SO:0001583	missense	114789				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr9:130863479G>C	AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"""Solute carriers"", ""EF-hand domain containing"""	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373064.5:c.264G>C	9.37:g.130863479G>C	ENSP00000362155:p.Lys88Asn					SLC25A25_uc004btb.2_Missense_Mutation_p.K122N|SLC25A25_uc004btc.2_Missense_Mutation_p.K108N|SLC25A25_uc004btd.2_Missense_Mutation_p.K108N|SLC25A25_uc004btf.2_5'UTR	p.K88N	NM_052901	NP_443133	Q6KCM7	SCMC2_HUMAN			2	293	+			88			EF-hand 2.|Mitochondrial intermembrane (Potential).		Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Missense_Mutation	SNP	ENST00000373064.5	37	c.264G>C	CCDS6890.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.800982	0.50315	.	.	ENSG00000148339	ENST00000373068;ENST00000373069;ENST00000432073;ENST00000373066;ENST00000373064	T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68	5.33	4.43	0.53597	EF-hand-like domain (1);	0.043850	0.85682	D	0.000000	T	0.63165	0.2488	L	0.45698	1.435	0.80722	D	1	B;B;B;B	0.24043	0.004;0.04;0.086;0.096	B;B;B;B	0.27796	0.034;0.051;0.051;0.083	T	0.57165	-0.7858	10	0.20046	T	0.44	-33.4282	13.0469	0.58931	0.0774:0.0:0.9226:0.0	.	88;108;108;122	Q6KCM7;Q6KCM7-5;Q6KCM7-4;Q6KCM7-2	SCMC2_HUMAN;.;.;.	N	122;122;108;108;88	ENSP00000362159:K122N;ENSP00000362160:K122N;ENSP00000410053:K108N;ENSP00000362157:K108N;ENSP00000362155:K88N	ENSP00000362155:K88N	K	+	3	2	SLC25A25	129903300	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.386000	0.52492	1.248000	0.43934	0.462000	0.41574	AAG		0.512	SLC25A25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054407.1	NM_052901		13	130	0	0	0	0	13	130				
GFI1B	8328	broad.mit.edu	37	9	135862790	135862790	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr9:135862790G>C	ENST00000339463.3	+	7	1041	c.222G>C	c.(220-222)agG>agC	p.R74S	GFI1B_ENST00000450530.1_Missense_Mutation_p.R74S|GFI1B_ENST00000372122.1_Missense_Mutation_p.R74S|GFI1B_ENST00000372124.1_Missense_Mutation_p.R74S|GFI1B_ENST00000534944.1_Missense_Mutation_p.R74S|GFI1B_ENST00000372123.1_Missense_Mutation_p.R74S			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	74					cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		ACTTGGCCAGGATGGCCCCGG	0.617																																						uc004ccg.2		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(220-222)AGG>AGC		growth factor independent 1B transcription							74.0	67.0	69.0					9																	135862790		2203	4300	6503	SO:0001583	missense	8328				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	g.chr9:135862790G>C	AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"""Zinc fingers, C2H2-type"""	4238	protein-coding gene	gene with protein product		604383	"""growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"""			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.222G>C	9.37:g.135862790G>C	ENSP00000344782:p.Arg74Ser					GFI1B_uc010mzy.2_Missense_Mutation_p.R74S	p.R74S	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)	3	373	+			74					O95270|Q5VTD8|Q6FHZ2|Q6T888	Missense_Mutation	SNP	ENST00000339463.3	37	c.222G>C	CCDS6957.1	.	.	.	.	.	.	.	.	.	.	G	1.269	-0.613633	0.03690	.	.	ENSG00000165702	ENST00000372124;ENST00000339463;ENST00000450530;ENST00000534944;ENST00000372123;ENST00000372122	T;T;T;T;T;T	0.08370	3.24;3.1;3.1;3.24;3.24;3.1	4.71	2.76	0.32466	.	0.844637	0.10779	N	0.635092	T	0.06735	0.0172	N	0.19112	0.55	0.23459	N	0.997635	B;B	0.11235	0.004;0.0	B;B	0.12156	0.007;0.002	T	0.38757	-0.9646	10	0.37606	T	0.19	-13.9766	11.215	0.48821	0.0:0.3599:0.6401:0.0	.	74;74	Q5VTD9-2;Q5VTD9	.;GFI1B_HUMAN	S	74	ENSP00000361197:R74S;ENSP00000344782:R74S;ENSP00000409546:R74S;ENSP00000446134:R74S;ENSP00000361196:R74S;ENSP00000361195:R74S	ENSP00000344782:R74S	R	+	3	2	GFI1B	134852611	0.804000	0.28969	0.016000	0.15963	0.031000	0.12232	1.144000	0.31565	0.456000	0.26937	0.655000	0.94253	AGG		0.617	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	NM_004188		10	35	0	0	0	0	10	35				
NOTCH1	4851	broad.mit.edu	37	9	139412690	139412690	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr9:139412690G>A	ENST00000277541.6	-	7	1229	c.1154C>T	c.(1153-1155)tCc>tTc	p.S385F	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	385	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTCGCAGTTGGAGCCCTCGTT	0.672			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(1153-1155)TCC>TTC		notch1 preproprotein							80.0	86.0	84.0					9																	139412690		2173	4281	6454	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412690G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1154C>T	9.37:g.139412690G>A	ENSP00000277541:p.Ser385Phe	HNSCC(8;0.001)					p.S385F	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	7	1154	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	385			Extracellular (Potential).|EGF-like 10.		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1154C>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751446	0.89753	.	.	ENSG00000148400	ENST00000277541	D	0.82711	-1.64	4.82	4.82	0.62117	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.87826	0.6275	L	0.52126	1.63	0.80722	D	1	D	0.56746	0.977	P	0.62649	0.905	D	0.89316	0.3636	10	0.87932	D	0	.	16.4581	0.84029	0.0:0.0:1.0:0.0	.	385	P46531	NOTC1_HUMAN	F	385	ENSP00000277541:S385F	ENSP00000277541:S385F	S	-	2	0	NOTCH1	138532511	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.214000	0.95140	2.223000	0.72356	0.514000	0.50259	TCC		0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		7	9	0	0	0	0	7	9				
ARSD	414	broad.mit.edu	37	X	2825395	2825395	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chrX:2825395T>C	ENST00000381154.1	-	10	1774	c.1699A>G	c.(1699-1701)Atc>Gtc	p.I567V	ARSD-AS1_ENST00000414053.1_RNA	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	567					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTCCACAGGATGTTGCTCATG	0.617																																						uc004cqy.2		NA																	0					0						c.(1699-1701)ATC>GTC		arylsulfatase D isoform a precursor							35.0	33.0	34.0					X																	2825395		2202	4299	6501	SO:0001583	missense	414					lysosome	arylsulfatase activity|metal ion binding	g.chrX:2825395T>C	X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"""Arylsulfatase family"""	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.1699A>G	X.37:g.2825395T>C	ENSP00000370546:p.Ile567Val					ARSD_uc004cqz.1_RNA	p.I567V	NM_001669	NP_001660	P51689	ARSD_HUMAN			10	1775	-		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)	567					Q9UHJ8	Missense_Mutation	SNP	ENST00000381154.1	37	c.1699A>G	CCDS35196.1	.	.	.	.	.	.	.	.	.	.	t	3.511	-0.099829	0.07010	.	.	ENSG00000006756	ENST00000381154	D	0.89343	-2.5	3.03	1.79	0.24919	Alkaline-phosphatase-like, core domain (1);	0.279825	0.26983	U	0.021509	T	0.78742	0.4331	L	0.28556	0.865	0.09310	N	1	B	0.16396	0.017	B	0.13407	0.009	T	0.60068	-0.7335	10	0.17369	T	0.5	.	7.8135	0.29245	0.1891:0.0:0.0:0.8109	.	567	P51689	ARSD_HUMAN	V	567	ENSP00000370546:I567V	ENSP00000370546:I567V	I	-	1	0	ARSD	2835395	0.294000	0.24380	0.000000	0.03702	0.001000	0.01503	0.921000	0.28718	0.059000	0.16252	-0.573000	0.04149	ATC		0.617	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			6	27	0	0	0	0	6	27				
BEND2	139105	broad.mit.edu	37	X	18192280	18192280	+	Silent	SNP	A	A	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chrX:18192280A>C	ENST00000380033.4	-	12	1983	c.1851T>G	c.(1849-1851)tcT>tcG	p.S617S	BEND2_ENST00000380030.3_Silent_p.S526S	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	617										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GAAACATCCAAGAACAGCCTT	0.438																																						uc004cyj.3		NA																	0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(1849-1851)TCT>TCG		BEN domain containing 2							151.0	122.0	132.0					X																	18192280		2203	4300	6503	SO:0001819	synonymous_variant	139105							g.chrX:18192280A>C	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.1851T>G	X.37:g.18192280A>C						BEND2_uc010nfb.2_Silent_p.S526S	p.S617S	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN			12	2005	-			617					E9PFY2|Q4V9S2|Q5JXE5	Silent	SNP	ENST00000380033.4	37	c.1851T>G	CCDS14184.1																																																																																				0.438	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		25	58	0	0	0	0	25	58				
SH3KBP1	30011	broad.mit.edu	37	X	19702122	19702122	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chrX:19702122T>A	ENST00000397821.3	-	6	835	c.545A>T	c.(544-546)gAg>gTg	p.E182V	SH3KBP1_ENST00000379698.4_Missense_Mutation_p.E145V|SH3KBP1_ENST00000379697.3_Missense_Mutation_p.E226V	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	182					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CCCATCACTCTCGGAGCCTGT	0.537																																						uc004czm.2		NA																	0					0						c.(544-546)GAG>GTG		SH3-domain kinase binding protein 1 isoform a							113.0	91.0	98.0					X																	19702122		2203	4300	6503	SO:0001583	missense	30011				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding	g.chrX:19702122T>A	AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.545A>T	X.37:g.19702122T>A	ENSP00000380921:p.Glu182Val					SH3KBP1_uc004czl.2_Missense_Mutation_p.E145V	p.E182V	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN			6	861	-			182					B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	ENST00000397821.3	37	c.545A>T	CCDS14193.1	.	.	.	.	.	.	.	.	.	.	T	15.20	2.764126	0.49574	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000397804;ENST00000379698;ENST00000379726;ENST00000379697;ENST00000432234;ENST00000431164	T;T;T;T;T;T	0.52526	1.39;1.5;1.01;1.01;0.66;0.8	5.63	5.63	0.86233	.	1.068800	0.07081	N	0.837037	T	0.68183	0.2973	L	0.56769	1.78	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.948;0.991	T	0.50466	-0.8825	10	0.39692	T	0.17	-19.1609	14.8389	0.70209	0.0:0.0:0.0:1.0	.	182;145	Q96B97;Q5JPT5	SH3K1_HUMAN;.	V	167;182;90;145;162;226;129;90	ENSP00000380921:E182V;ENSP00000369020:E145V;ENSP00000369049:E162V;ENSP00000369019:E226V;ENSP00000388766:E129V;ENSP00000409292:E90V	ENSP00000369019:E226V	E	-	2	0	SH3KBP1	19612043	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	6.369000	0.73109	1.886000	0.54624	0.486000	0.48141	GAG		0.537	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892		8	38	0	0	0	0	8	38				
HUWE1	10075	broad.mit.edu	37	X	53617986	53617986	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chrX:53617986G>A	ENST00000342160.3	-	33	4526	c.4069C>T	c.(4069-4071)Cct>Tct	p.P1357S	HUWE1_ENST00000218328.8_Missense_Mutation_p.P1357S|HUWE1_ENST00000262854.6_Missense_Mutation_p.P1357S			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1357					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATGATTGGAGGAGGGTGGGTT	0.488																																						uc004dsp.2		NA																	0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(4069-4071)CCT>TCT		HECT, UBA and WWE domain containing 1							147.0	117.0	127.0					X																	53617986		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53617986G>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.4069C>T	X.37:g.53617986G>A	ENSP00000340648:p.Pro1357Ser					HUWE1_uc004dsn.2_Missense_Mutation_p.P182S	p.P1357S	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			34	4471	-			1357					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.4069C>T	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.46|18.46	3.629571|3.629571	0.67015|0.67015	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328|ENST00000427052	T;T;T|.	0.22134|.	1.97;1.97;1.97|.	5.73|5.73	5.73|5.73	0.89815|0.89815	Armadillo-like helical (1);UBA-like (1);|.	0.191671|.	0.45361|.	D|.	0.000370|.	T|T	0.54581|0.54581	0.1867|0.1867	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	B;P|.	0.37370|.	0.073;0.592|.	B;B|.	0.41946|.	0.066;0.371|.	T|T	0.50118|0.50118	-0.8865|-0.8865	10|5	0.34782|.	T|.	0.22|.	.|.	17.5698|17.5698	0.87932|0.87932	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1357;1357|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	S|F	1357|390	ENSP00000340648:P1357S;ENSP00000262854:P1357S;ENSP00000218328:P1357S|.	ENSP00000218328:P1357S|.	P|S	-|-	1|2	0|0	HUWE1|HUWE1	53634711|53634711	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	9.264000|9.264000	0.95635|0.95635	2.419000|2.419000	0.82065|0.82065	0.600000|0.600000	0.82982|0.82982	CCT|TCC		0.488	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		4	20	0	0	0	0	4	20				
HUWE1	10075	broad.mit.edu	37	X	53619384	53619384	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chrX:53619384G>C	ENST00000342160.3	-	32	4403	c.3946C>G	c.(3946-3948)Caa>Gaa	p.Q1316E	HUWE1_ENST00000218328.8_Missense_Mutation_p.Q1316E|HUWE1_ENST00000262854.6_Missense_Mutation_p.Q1316E			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1316	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGGTTGACTTGAGGTTCCCGG	0.537																																						uc004dsp.2		NA																	0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(3946-3948)CAA>GAA		HECT, UBA and WWE domain containing 1							232.0	186.0	202.0					X																	53619384		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53619384G>C	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.3946C>G	X.37:g.53619384G>C	ENSP00000340648:p.Gln1316Glu					HUWE1_uc004dsn.2_Missense_Mutation_p.Q141E	p.Q1316E	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			33	4348	-			1316			UBA.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.3946C>G	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.105|3.105	-0.183873|-0.183873	0.06340|0.06340	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328|ENST00000427052	T;T;T|.	0.20738|.	2.05;2.05;2.05|.	5.88|5.88	5.88|5.88	0.94601|0.94601	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (1);UBA-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.32734|.	0.0839|.	N|N	0.02011|0.02011	-0.69|-0.69	0.38873|0.38873	D|D	0.956734|0.956734	B;B|.	0.18166|.	0.015;0.026|.	B;B|.	0.20384|.	0.013;0.029|.	T|.	0.39742|.	-0.9599|.	10|.	0.02654|.	T|.	1|.	.|.	17.8502|17.8502	0.88744|0.88744	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1316;1316|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	E|X	1316|349	ENSP00000340648:Q1316E;ENSP00000262854:Q1316E;ENSP00000218328:Q1316E|.	ENSP00000218328:Q1316E|.	Q|S	-|-	1|2	0|0	HUWE1|HUWE1	53636109|53636109	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.224000|4.224000	0.58593|0.58593	2.489000|2.489000	0.83994|0.83994	0.600000|0.600000	0.82982|0.82982	CAA|TCA		0.537	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		18	52	0	0	0	0	18	52				
ZMAT1	84460	broad.mit.edu	37	X	101152892	101152892	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chrX:101152892A>T	ENST00000372782.3	-	5	501	c.454T>A	c.(454-456)Tta>Ata	p.L152I	ZMAT1_ENST00000458570.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.L152I	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	152						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TCCTCCATTAATTGCTTCAGT	0.403																																						uc011mrl.1		NA																	0				ovary(1)	1						c.(454-456)TTA>ATA		zinc finger, matrin type 1 isoform 1							146.0	111.0	123.0					X																	101152892		2203	4300	6503	SO:0001583	missense	84460					nucleus	zinc ion binding	g.chrX:101152892A>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.454T>A	X.37:g.101152892A>T	ENSP00000361868:p.Leu152Ile					ZMAT1_uc004ein.2_5'UTR|ZMAT1_uc011mrm.1_5'UTR	p.L152I	NM_001011657	NP_001011657	Q5H9K5	ZMAT1_HUMAN			5	765	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	37	c.454T>A	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	A	10.90	1.481413	0.26598	.	.	ENSG00000166432	ENST00000372782;ENST00000540921	T;T	0.51071	0.72;0.72	4.59	2.02	0.26589	Zinc finger, U1-type (1);	1.233700	0.06461	N	0.729373	T	0.60547	0.2277	M	0.71036	2.16	0.09310	N	0.999998	D	0.62365	0.991	P	0.58454	0.839	T	0.36529	-0.9744	10	0.48119	T	0.1	0.042	5.5521	0.17095	0.7334:0.1703:0.0963:0.0	.	152	Q5H9K5	ZMAT1_HUMAN	I	152	ENSP00000361868:L152I;ENSP00000437529:L152I	ENSP00000361868:L152I	L	-	1	2	ZMAT1	101039548	0.402000	0.25311	0.001000	0.08648	0.152000	0.21847	1.445000	0.35079	0.196000	0.20367	-0.555000	0.04198	TTA		0.403	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			10	27	0	0	0	0	10	27				
ARHGEF6	9459	broad.mit.edu	37	X	135862907	135862907	+	Silent	SNP	G	G	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chrX:135862907G>A	ENST00000250617.6	-	1	1340	c.135C>T	c.(133-135)atC>atT	p.I45I		NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	45	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TGAGTCTGTTGATCAGTTTGC	0.433																																						uc004fab.2		NA																	0					0						c.(133-135)ATC>ATT		Rac/Cdc42 guanine nucleotide exchange factor 6							176.0	166.0	169.0					X																	135862907		2203	4300	6503	SO:0001819	synonymous_variant	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135862907G>A	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.135C>T	X.37:g.135862907G>A							p.I45I	NM_004840	NP_004831	Q15052	ARHG6_HUMAN			1	597	-	Acute lymphoblastic leukemia(192;0.000127)		45			CH.		A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Silent	SNP	ENST00000250617.6	37	c.135C>T	CCDS14660.1																																																																																				0.433	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		9	114	0	0	0	0	9	114				
DAAM1	23002	broad.mit.edu	37	14	59792758	59792758	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr14:59792758delT	ENST00000395125.1	+	9	1160	c.1137delT	c.(1135-1137)catfs	p.H379fs	DAAM1_ENST00000360909.3_Frame_Shift_Del_p.H379fs|DAAM1_ENST00000351081.1_Frame_Shift_Del_p.H379fs	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	379	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CTTACCCGCATTTCATGTCCA	0.443																																						uc001xdz.1		NA																	0				ovary(1)	1						c.(1135-1137)CATfs		dishevelled-associated activator of							162.0	123.0	136.0					14																	59792758		2203	4300	6503	SO:0001589	frameshift_variant	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59792758delT	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.1137delT	14.37:g.59792758delT	ENSP00000378557:p.His379fs					DAAM1_uc001xea.1_Frame_Shift_Del_p.H379fs|DAAM1_uc001xeb.1_Frame_Shift_Del_p.H379fs	p.H379fs	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	10	1262	+			379			GBD/FH3.		Q86U34|Q8N1Z8|Q8TB39	Frame_Shift_Del	DEL	ENST00000395125.1	37	c.1137delT	CCDS9737.1																																																																																				0.443	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		7	50	NA	NA	NA	NA	7	50	---	---	---	---
THRA	7067	broad.mit.edu	37	17	38241015	38241022	+	Frame_Shift_Del	DEL	CATCGCAG	CATCGCAG	-	rs11545238		TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr17:38241015_38241022delCATCGCAG	ENST00000264637.4	+	6	1103_1110	c.523_530delCATCGCAG	c.(523-531)catcgcagcfs	p.HRS175fs	THRA_ENST00000546243.1_Frame_Shift_Del_p.HRS175fs|THRA_ENST00000450525.2_Frame_Shift_Del_p.HRS175fs|THRA_ENST00000394121.4_Frame_Shift_Del_p.HRS175fs|THRA_ENST00000584985.1_Frame_Shift_Del_p.HRS175fs	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	175					cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CACAGAGGCCCATCGCAGCACCAATGCC	0.606																																						uc002htw.2		NA																	0					0						c.(523-531)CATCGCAGCfs		thyroid hormone receptor, alpha isoform 2	Levothyroxine(DB00451)|Liothyronine(DB00279)																																			SO:0001589	frameshift_variant	7067				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38241015_38241022delCATCGCAG	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"""Nuclear hormone receptors"""	11796	protein-coding gene	gene with protein product		190120	"""thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)"", ""thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"""	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.523_530delCATCGCAG	17.37:g.38241015_38241022delCATCGCAG	ENSP00000264637:p.His175fs					THRA_uc010cwp.1_Frame_Shift_Del_p.H175fs|THRA_uc002htv.2_Frame_Shift_Del_p.H175fs|THRA_uc002htx.2_Frame_Shift_Del_p.H175fs	p.H175fs	NM_003250	NP_003241	P10827	THA_HUMAN			6	1006_1013	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	175_177					A8K3B5|P21205|Q8N6A1|Q96H73	Frame_Shift_Del	DEL	ENST00000264637.4	37	c.523_530delCATCGCAG	CCDS11360.1																																																																																				0.606	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2			14	186	NA	NA	NA	NA	14	186	---	---	---	---
ASXL1	171023	broad.mit.edu	37	20	31022294	31022294	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr20:31022294delA	ENST00000375687.4	+	13	2203	c.1779delA	c.(1777-1779)atafs	p.I593fs	ASXL1_ENST00000306058.5_Frame_Shift_Del_p.I588fs	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	593	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.Q592fs*5(1)|p.C594fs*25(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTTACCAGATATGCCCCCGGA	0.532			"""F, N, Mis"""		"""MDS, CMML"""																																	uc002wxs.2		NA		Rec	yes		20	20q11.1	171023	F|N|Mis	additional sex combs like 1			L			MDS|CMML		2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.Q592fs*5(1)	haematopoietic_and_lymphoid_tissue(2)	haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						c.(1777-1779)ATAfs		additional sex combs like 1 isoform 1							51.0	55.0	53.0					20																	31022294		2203	4300	6503	SO:0001589	frameshift_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31022294delA	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1779delA	20.37:g.31022294delA	ENSP00000364839:p.Ile593fs					ASXL1_uc010geb.2_Frame_Shift_Del_p.I484fs	p.I593fs	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			12	2205	+			593					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Frame_Shift_Del	DEL	ENST00000375687.4	37	c.1779delA	CCDS13201.1																																																																																				0.532	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		11	91	NA	NA	NA	NA	11	91	---	---	---	---
IL1RAP	3556	broad.mit.edu	37	3	190362120	190362121	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr3:190362120_190362121insA	ENST00000412504.2	+	9	1387_1388	c.1135_1136insA	c.(1135-1137)catfs	p.H379fs	IL1RAP_ENST00000443369.2_Frame_Shift_Ins_p.H379fs|IL1RAP_ENST00000439062.1_Frame_Shift_Ins_p.H379fs|IL1RAP_ENST00000447382.1_Frame_Shift_Ins_p.H379fs|RN7SKP296_ENST00000411185.1_RNA|IL1RAP_ENST00000072516.3_Frame_Shift_Ins_p.H379fs|IL1RAP_ENST00000317757.3_Frame_Shift_Ins_p.H379fs			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	379					immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		TGTTGTTTACCATGTTTACTGG	0.416																																						uc003fsm.1		NA																	0				ovary(1)	1						c.(1135-1137)CATfs		interleukin 1 receptor accessory protein isoform																																				SO:0001589	frameshift_variant	3556				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane		g.chr3:190362120_190362121insA	AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.1136dupA	3.37:g.190362121_190362121dupA	ENSP00000412053:p.His379fs					IL1RAP_uc010hzg.1_Frame_Shift_Ins_p.H379fs|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Frame_Shift_Ins_p.H379fs|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Frame_Shift_Ins_p.H379fs	p.H379fs	NM_002182	NP_002173	Q9NPH3	IL1AP_HUMAN	Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)	10	1341_1342	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		379			Helical; (Potential).		B1NLD0|D3DNW0|O14915|Q86WJ7	Frame_Shift_Ins	INS	ENST00000412504.2	37	c.1135_1136insA	CCDS3298.1																																																																																				0.416	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343497.1			20	47	NA	NA	NA	NA	20	47	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139402819	139402820	+	Frame_Shift_Del	DEL	CA	CA	-	rs375931404		TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chr9:139402819_139402820delCA	ENST00000277541.6	-	20	3264_3265	c.3189_3190delTG	c.(3187-3192)tgtgacfs	p.CD1063fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1063	EGF-like 28. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCGAGGAGTCACACCAGTGCA	0.658			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(3187-3192)TGTGACfs		notch1 preproprotein																																				SO:0001589	frameshift_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139402819_139402820delCA	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.3189_3190delTG	9.37:g.139402821_139402822delCA	ENSP00000277541:p.Cys1063fs	HNSCC(8;0.001)				NOTCH1_uc004cia.1_Frame_Shift_Del_p.C293fs	p.C1063fs	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	20	3189_3190	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1063_1064			Extracellular (Potential).|EGF-like 28.		Q59ED8|Q5SXM3	Frame_Shift_Del	DEL	ENST00000277541.6	37	c.3189_3190delTG	CCDS43905.1																																																																																				0.658	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		7	237	NA	NA	NA	NA	7	237	---	---	---	---
TCEAL3	85012	broad.mit.edu	37	X	102864119	102864120	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7089-01A-11D-2012-08	TCGA-CV-7089-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	125ccb76-bf8d-4ce7-a04c-4424d6da0322	41d9b9bd-e0fd-4abc-ad29-41ca136e3e0a	g.chrX:102864119_102864120insA	ENST00000372628.1	+	3	485_486	c.127_128insA	c.(127-129)gaafs	p.E43fs	TCEAL3_ENST00000372627.5_Frame_Shift_Ins_p.E43fs|TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000243286.3_Frame_Shift_Ins_p.E43fs			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	43	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						ggggaagacagaatgcgaggga	0.535																																						uc004ekq.2		NA																	0					0						c.(127-129)GAAfs		transcription elongation factor A (SII)-like 3																																				SO:0001589	frameshift_variant	85012				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:102864119_102864120insA	BC008703	CCDS14511.1	Xq22.2	2014-03-21			ENSG00000196507	ENSG00000196507			28247	protein-coding gene	gene with protein product						16221301	Standard	NM_032926		Approved	MGC15737, WEX8	uc004ekr.3	Q969E4	OTTHUMG00000022106	ENST00000372628.1:c.129dupA	X.37:g.102864121_102864121dupA	ENSP00000361711:p.Glu43fs					TCEAL3_uc004ekr.2_Frame_Shift_Ins_p.E43fs	p.E43fs	NM_001006933	NP_001006934	Q969E4	TCAL3_HUMAN			3	389_390	+			43			Glu-rich.		D3DXA4	Frame_Shift_Ins	INS	ENST00000372628.1	37	c.127_128insA	CCDS14511.1																																																																																				0.535	TCEAL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057737.1	NM_032926		16	33	NA	NA	NA	NA	16	33	---	---	---	---
