#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
PRDM16	63976	broad.mit.edu	37	1	3322204	3322204	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:3322204C>T	ENST00000270722.5	+	8	1227	c.1178C>T	c.(1177-1179)cCt>cTt	p.P393L	PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000511072.1_Missense_Mutation_p.P394L|PRDM16_ENST00000378391.2_Missense_Mutation_p.P393L|PRDM16_ENST00000442529.2_Missense_Mutation_p.P393L|PRDM16_ENST00000378398.3_Missense_Mutation_p.P394L|PRDM16_ENST00000441472.2_Missense_Mutation_p.P393L|PRDM16_ENST00000514189.1_Missense_Mutation_p.P394L			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	393					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		ACGGTGAAGCCTTTCATATGT	0.701			T	EVI1	"""MDS, AML"""																																	uc001akf.2		NA		Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		MDS|AML		0				lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.(1177-1179)CCT>CTT		PR domain containing 16 isoform 1							53.0	61.0	59.0					1																	3322204		2193	4284	6477	SO:0001583	missense	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3322204C>T	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.1178C>T	1.37:g.3322204C>T	ENSP00000270722:p.Pro393Leu					PRDM16_uc001akc.2_Missense_Mutation_p.P393L|PRDM16_uc001akd.2_Missense_Mutation_p.P393L|PRDM16_uc001ake.2_Missense_Mutation_p.P393L|PRDM16_uc009vlh.2_Missense_Mutation_p.P94L	p.P393L	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	8	1258	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	393					A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	c.1178C>T	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883410	0.72410	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	4.56	4.56	0.56223	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48767	U	0.000169	T	0.81004	0.4733	M	0.83603	2.65	0.80722	D	1	D;D;B;D	0.89917	1.0;0.984;0.331;0.988	D;P;B;P	0.85130	0.997;0.729;0.224;0.804	D	0.84967	0.0880	10	0.87932	D	0	.	17.307	0.87198	0.0:1.0:0.0:0.0	.	393;393;393;393	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	L	394;394;393;393;393;394;393;209;209;202	ENSP00000426975:P394L;ENSP00000367651:P394L;ENSP00000407968:P393L;ENSP00000405253:P393L;ENSP00000367643:P393L;ENSP00000421400:P394L;ENSP00000270722:P393L;ENSP00000422504:P209L;ENSP00000425796:P202L	ENSP00000270722:P393L	P	+	2	0	PRDM16	3312064	1.000000	0.71417	0.981000	0.43875	0.242000	0.25591	7.367000	0.79558	2.066000	0.61787	0.491000	0.48974	CCT		0.701	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		14	76	0	0	0	0	14	76				
CASZ1	54897	broad.mit.edu	37	1	10719786	10719786	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:10719786A>T	ENST00000377022.3	-	6	1630	c.1313T>A	c.(1312-1314)aTc>aAc	p.I438N	CASZ1_ENST00000344008.5_Missense_Mutation_p.I438N|CASZ1_ENST00000478728.2_5'Flank	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	438					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CCCCGTGGTGATGGAGTCTGT	0.632																																						uc001aro.2		NA																	0				skin(1)	1						c.(1312-1314)ATC>AAC		castor homolog 1, zinc finger isoform a							84.0	84.0	84.0					1																	10719786		2203	4300	6503	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10719786A>T	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1313T>A	1.37:g.10719786A>T	ENSP00000366221:p.Ile438Asn					CASZ1_uc001arp.1_Missense_Mutation_p.I438N|CASZ1_uc009vmx.2_Missense_Mutation_p.I462N|CASZ1_uc001arq.1_Missense_Mutation_p.I297N	p.I438N	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	6	1633	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	438					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.1313T>A	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	a	22.6	4.312389	0.81358	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.64483	0.2602	N	0.22421	0.69	0.46725	D	0.999177	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.87578	0.983;0.981;0.983;0.998	T	0.69113	-0.5231	9	0.66056	D	0.02	-32.5683	15.4403	0.75178	1.0:0.0:0.0:0.0	.	462;438;438;438	B7Z1S3;B3KRV8;Q86V15-2;Q86V15	.;.;.;CASZ1_HUMAN	N	438	.	ENSP00000339445:I438N	I	-	2	0	CASZ1	10642373	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.828000	0.75308	2.115000	0.64714	0.529000	0.55759	ATC		0.632	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		13	60	0	0	0	0	13	60				
RPF1	80135	broad.mit.edu	37	1	84946675	84946675	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:84946675A>G	ENST00000370654.5	+	2	280	c.265A>G	c.(265-267)Aga>Gga	p.R89G	RPF1_ENST00000370656.1_Missense_Mutation_p.R89G	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	89					rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)	p.E90fs*5(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						TAAAAAAGAAAGAGAGGCTCT	0.303																																						uc001djv.3		NA																	1	Deletion - Frameshift(1)		large_intestine(1)		0						c.(265-267)AGA>GGA		RNA processing factor 1							89.0	97.0	94.0					1																	84946675		2203	4298	6501	SO:0001583	missense	80135				rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding	g.chr1:84946675A>G	AF322053	CCDS695.1	1p22.3	2009-09-25	2009-09-25	2009-09-25	ENSG00000117133	ENSG00000117133			30350	protein-coding gene	gene with protein product	"""RNA processing factor 1"", ""ribosome production factor 1"""		"""brix domain containing 5"""	BXDC5		11864606	Standard	NM_025065		Approved		uc001djv.4	Q9H9Y2	OTTHUMG00000009857	ENST00000370654.5:c.265A>G	1.37:g.84946675A>G	ENSP00000359688:p.Arg89Gly						p.R89G	NM_025065	NP_079341	Q9H9Y2	RPF1_HUMAN			2	310	+			89					Q5VSK7|Q6AHX1|Q8WXZ8	Missense_Mutation	SNP	ENST00000370654.5	37	c.265A>G	CCDS695.1	.	.	.	.	.	.	.	.	.	.	A	13.86	2.361984	0.41801	.	.	ENSG00000117133	ENST00000370656;ENST00000370654	T;T	0.55234	0.53;1.35	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.29423	0.0733	M	0.67953	2.075	0.80722	D	1	P	0.39782	0.688	B	0.28849	0.095	T	0.18209	-1.0344	10	0.23302	T	0.38	-19.8411	11.4584	0.50195	0.8496:0.1503:0.0:0.0	.	89	Q9H9Y2	RPF1_HUMAN	G	89	ENSP00000359690:R89G;ENSP00000359688:R89G	ENSP00000359688:R89G	R	+	1	2	RPF1	84719263	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.695000	0.47043	2.167000	0.68274	0.460000	0.39030	AGA		0.303	RPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027238.1	NM_025065		29	35	0	0	0	0	29	35				
COL11A1	1301	broad.mit.edu	37	1	103480090	103480090	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:103480090G>C	ENST00000370096.3	-	13	1861	c.1549C>G	c.(1549-1551)Caa>Gaa	p.Q517E	COL11A1_ENST00000358392.2_Missense_Mutation_p.Q529E|COL11A1_ENST00000512756.1_Missense_Mutation_p.Q401E|COL11A1_ENST00000353414.4_Missense_Mutation_p.Q478E	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	517	Telopeptide.				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)		AGAATAGCTTGAGCCTGAGCT	0.418																																						uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(1549-1551)CAA>GAA		alpha 1 type XI collagen isoform A							103.0	87.0	92.0					1																	103480090		2203	4300	6503	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.chr1:103480090G>C	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.1549C>G	1.37:g.103480090G>C	ENSP00000359114:p.Gln517Glu					COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.Q529E|COL11A1_uc001dun.2_Missense_Mutation_p.Q478E|COL11A1_uc009weh.2_Missense_Mutation_p.Q401E	p.Q517E	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	13	1867	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	517			Telopeptide.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1549C>G	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974463	0.74246	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	D;D;D;D;D	0.88124	-2.34;-2.34;-2.32;-2.34;-2.16	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.93341	0.7877	M	0.83603	2.65	0.80722	D	1	P;P;P;P	0.52577	0.713;0.954;0.954;0.924	P;D;D;P	0.67900	0.68;0.954;0.954;0.9	D	0.93434	0.6788	10	0.66056	D	0.02	.	19.5815	0.95469	0.0:0.0:1.0:0.0	.	401;478;529;517	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	E	517;529;478;401;529	ENSP00000359114:Q517E;ENSP00000351163:Q529E;ENSP00000302551:Q478E;ENSP00000426533:Q401E;ENSP00000408640:Q529E	ENSP00000302551:Q478E	Q	-	1	0	COL11A1	103252678	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	8.942000	0.92970	2.620000	0.88729	0.655000	0.94253	CAA		0.418	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		8	31	0	0	0	0	8	31				
RPTN	126638	broad.mit.edu	37	1	152128471	152128471	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:152128471A>T	ENST00000316073.3	-	3	1168	c.1104T>A	c.(1102-1104)agT>agA	p.S368R		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	368	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGTTTGGTTGACTGTAGTGGG	0.463																																						uc001ezs.1		NA																	0					0						c.(1102-1104)AGT>AGA		repetin							755.0	657.0	687.0					1																	152128471		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128471A>T	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1104T>A	1.37:g.152128471A>T	ENSP00000317895:p.Ser368Arg						p.S368R	NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN			3	1169	-			368			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.1104T>A	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	a	11.75	1.731373	0.30684	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	T	0.11712	2.75	4.13	-3.92	0.04155	.	.	.	.	.	T	0.01320	0.0043	N	0.19112	0.55	0.09310	N	1	P	0.37176	0.586	B	0.27608	0.081	T	0.45366	-0.9266	9	0.35671	T	0.21	.	4.0207	0.09664	0.2347:0.0:0.4299:0.3353	.	368	Q6XPR3	RPTN_HUMAN	R	368;23	ENSP00000317895:S368R	ENSP00000317895:S368R	S	-	3	2	RPTN	150395095	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.874000	0.01636	-0.308000	0.08792	0.317000	0.21355	AGT		0.463	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		151	749	0	0	0	0	151	749				
NUP210L	91181	broad.mit.edu	37	1	154029336	154029336	+	Silent	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:154029336C>T	ENST00000368559.3	-	23	3266	c.3195G>A	c.(3193-3195)aaG>aaA	p.K1065K	NUP210L_ENST00000271854.3_Silent_p.K1065K|NUP210L_ENST00000368553.1_5'UTR	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1065					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CCATCTTGTCCTTGGCAATAG	0.388																																						uc001fdw.2		NA																	0				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11						c.(3193-3195)AAG>AAA		nucleoporin 210kDa-like isoform 1							155.0	140.0	145.0					1																	154029336		1863	4107	5970	SO:0001819	synonymous_variant	91181					integral to membrane		g.chr1:154029336C>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.3195G>A	1.37:g.154029336C>T						NUP210L_uc009woq.2_Intron|NUP210L_uc010peh.1_Silent_p.K1065K	p.K1065K	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		23	3267	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1065					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	ENST00000368559.3	37	c.3195G>A	CCDS41399.1																																																																																				0.388	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		6	66	0	0	0	0	6	66				
FCRL4	83417	broad.mit.edu	37	1	157557696	157557696	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:157557696T>A	ENST00000271532.1	-	4	656	c.521A>T	c.(520-522)aAt>aTt	p.N174I	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	174	Ig-like C2-type 2.				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)				AAATACATCATTCTCGTCTCC	0.318																																						uc001fqw.2		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(520-522)AAT>ATT		Fc receptor-like 4 precursor							51.0	49.0	50.0					1																	157557696		2202	4300	6502	SO:0001583	missense	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157557696T>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.521A>T	1.37:g.157557696T>A	ENSP00000271532:p.Asn174Ile					FCRL4_uc010phy.1_Intron	p.N174I	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN			4	657	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	174			Extracellular (Potential).|Ig-like C2-type 2.		Q96PJ3|Q96RE0	Missense_Mutation	SNP	ENST00000271532.1	37	c.521A>T	CCDS1166.1	.	.	.	.	.	.	.	.	.	.	T	5.207	0.223738	0.09863	.	.	ENSG00000163518	ENST00000271532	T	0.20200	2.09	3.97	-5.98	0.02220	Immunoglobulin subtype (1);	1.175380	0.06431	N	0.724048	T	0.05364	0.0142	L	0.44542	1.39	0.09310	N	1	P	0.40197	0.706	B	0.43623	0.425	T	0.21690	-1.0238	10	0.22109	T	0.4	.	1.856	0.03179	0.2715:0.094:0.4033:0.2313	.	174	Q96PJ5	FCRL4_HUMAN	I	174	ENSP00000271532:N174I	ENSP00000271532:N174I	N	-	2	0	FCRL4	155824320	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.425000	0.02446	-0.867000	0.04063	0.383000	0.25322	AAT		0.318	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		6	19	0	0	0	0	6	19				
KIRREL	55243	broad.mit.edu	37	1	158046036	158046036	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:158046036G>C	ENST00000359209.6	+	2	253	c.186G>C	c.(184-186)atG>atC	p.M62I	KIRREL_ENST00000392272.2_Missense_Mutation_p.M62I|KIRREL_ENST00000360089.4_Start_Codon_SNP_p.M1I|KIRREL_ENST00000368173.3_Missense_Mutation_p.M62I|KIRREL_ENST00000416935.2_Intron			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	62	Ig-like C2-type 1.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CCCTGGGCATGGGCCAGGGCC	0.602																																						uc001frn.3		NA																	0				ovary(1)	1						c.(184-186)ATG>ATC		kin of IRRE like precursor							105.0	106.0	106.0					1																	158046036		2203	4300	6503	SO:0001583	missense	55243					integral to membrane		g.chr1:158046036G>C	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.186G>C	1.37:g.158046036G>C	ENSP00000352138:p.Met62Ile					KIRREL_uc010pib.1_Intron|KIRREL_uc009wsq.2_Missense_Mutation_p.M1I	p.M62I	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN			2	590	+	all_hematologic(112;0.0378)		62			Extracellular (Potential).|Ig-like C2-type 1.		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	c.186G>C	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	G	9.348	1.064849	0.20067	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209	T;D;D;D	0.83335	0.72;-1.71;-1.71;-1.71	4.56	4.56	0.56223	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.43110	D	0.000619	T	0.47060	0.1425	N	0.02011	-0.69	0.80722	D	1	B;B	0.15930	0.015;0.001	B;B	0.10450	0.005;0.002	T	0.48479	-0.9032	10	0.20046	T	0.44	-41.5527	15.6334	0.76929	0.0:0.0:1.0:0.0	.	1;62	Q5W0F9;Q96J84	.;KIRR1_HUMAN	I	1;62;62;62	ENSP00000353202:M1I;ENSP00000357155:M62I;ENSP00000376098:M62I;ENSP00000352138:M62I	ENSP00000352138:M62I	M	+	3	0	KIRREL	156312660	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.800000	0.38833	2.462000	0.83206	0.655000	0.94253	ATG		0.602	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		40	98	0	0	0	0	40	98				
USP21	27005	broad.mit.edu	37	1	161130531	161130531	+	Missense_Mutation	SNP	G	G	A	rs369560591		TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:161130531G>A	ENST00000289865.8	+	2	322	c.101G>A	c.(100-102)cGc>cAc	p.R34H	USP21_ENST00000368001.1_Missense_Mutation_p.R34H|RP11-297K8.2_ENST00000420498.1_RNA|USP21_ENST00000368002.3_Missense_Mutation_p.R34H	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	34					histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCCAGGGCCCGCAGCAAGGAG	0.632																																						uc010pke.1		NA																	0				ovary(2)|lung(1)|prostate(1)|breast(1)	5						c.(100-102)CGC>CAC		ubiquitin-specific protease 21		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	58.0	61.0	60.0		101,101	4.1	1.0	1		60	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	USP21	NM_001014443.2,NM_012475.4	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	34/566,34/566	161130531	1,13005	2203	4300	6503	SO:0001583	missense	27005				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:161130531G>A	AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.101G>A	1.37:g.161130531G>A	ENSP00000289865:p.Arg34His					USP21_uc010pkc.1_Missense_Mutation_p.R34H|USP21_uc010pkd.1_Missense_Mutation_p.R34H|USP21_uc010pkf.1_Missense_Mutation_p.R34H	p.R34H	NM_001014443	NP_001014443	Q9UK80	UBP21_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		3	478	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		34					Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Missense_Mutation	SNP	ENST00000289865.8	37	c.101G>A	CCDS30920.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.115441	0.56505	0.0	1.16E-4	ENSG00000143258	ENST00000368002;ENST00000289865;ENST00000368001	T;T;T	0.15603	2.57;2.57;2.41	5.04	4.13	0.48395	.	0.384018	0.22866	N	0.054687	T	0.04227	0.0117	N	0.14661	0.345	0.27055	N	0.9637	D	0.62365	0.991	P	0.46320	0.512	T	0.17048	-1.0382	10	0.62326	D	0.03	.	3.9346	0.09301	0.0876:0.1596:0.588:0.1648	.	34	Q9UK80	UBP21_HUMAN	H	34	ENSP00000356981:R34H;ENSP00000289865:R34H;ENSP00000356980:R34H	ENSP00000289865:R34H	R	+	2	0	USP21	159397155	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.713000	0.47194	1.352000	0.45808	0.561000	0.74099	CGC		0.632	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1			43	88	0	0	0	0	43	88				
PIK3C2B	5287	broad.mit.edu	37	1	204403072	204403072	+	Missense_Mutation	SNP	C	C	T	rs370508156		TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:204403072C>T	ENST00000367187.3	-	26	4248	c.3692G>A	c.(3691-3693)cGt>cAt	p.R1231H	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1203H	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1231	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			AAAGGGGGCACGGTCCCTGAG	0.557																																						uc001haw.2		NA																	0				lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7						c.(3691-3693)CGT>CAT		phosphoinositide-3-kinase, class 2 beta		C	HIS/ARG	0,4406		0,0,2203	79.0	73.0	75.0		3692	5.9	1.0	1		75	1,8599	1.2+/-3.3	0,1,4299	no	missense	PIK3C2B	NM_002646.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1231/1635	204403072	1,13005	2203	4300	6503	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204403072C>T	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.3692G>A	1.37:g.204403072C>T	ENSP00000356155:p.Arg1231His					PIK3C2B_uc010pqv.1_Missense_Mutation_p.R1203H	p.R1231H	NM_002646	NP_002637	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		26	4171	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		1231			PI3K/PI4K.		O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.3692G>A	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	C	36	5.728169	0.96856	0.0	1.16E-4	ENSG00000133056	ENST00000367187;ENST00000391949;ENST00000424712	T;T	0.76709	-1.04;-1.04	5.91	5.91	0.95273	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.060772	0.64402	D	0.000004	D	0.91476	0.7309	M	0.92649	3.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.92609	0.6098	10	0.87932	D	0	.	19.8934	0.96939	0.0:1.0:0.0:0.0	.	1203;1231	F5GWN5;O00750	.;P3C2B_HUMAN	H	1231;9;1203	ENSP00000356155:R1231H;ENSP00000400561:R1203H	ENSP00000356155:R1231H	R	-	2	0	PIK3C2B	202669695	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.731000	0.84895	2.802000	0.96397	0.655000	0.94253	CGT		0.557	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		8	62	0	0	0	0	8	62				
MTR	4548	broad.mit.edu	37	1	237060420	237060420	+	Splice_Site	SNP	T	T	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:237060420T>C	ENST00000366577.5	+	32	4105		c.e32+2		MTR_ENST00000470570.1_Splice_Site|MTR_ENST00000535889.1_Splice_Site	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase						cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AAGGATCAGGTAAGCTAGCTG	0.403																																						uc001hyi.3		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.e32+2		5-methyltetrahydrofolate-homocysteine	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						117.0	119.0	118.0					1																	237060420		2203	4300	6503	SO:0001630	splice_region_variant	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237060420T>C	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.3711+2T>C	1.37:g.237060420T>C						MTR_uc010pxw.1_Splice_Site_p.Q830_splice|MTR_uc010pxx.1_Splice_Site_p.Q1186_splice|MTR_uc010pxy.1_Splice_Site_p.Q1091_splice	p.Q1237_splice	NM_000254	NP_000245	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	32	4134	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)						A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Splice_Site	SNP	ENST00000366577.5	37	c.3711_splice	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.147387	0.77888	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889;ENST00000366576	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2813	0.82687	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MTR	235127043	1.000000	0.71417	0.999000	0.59377	0.890000	0.51754	7.432000	0.80349	2.244000	0.73946	0.533000	0.62120	.		0.403	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254	Intron	19	99	0	0	0	0	19	99				
SVIL	6840	broad.mit.edu	37	10	29824982	29824982	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr10:29824982G>C	ENST00000355867.4	-	7	1596	c.844C>G	c.(844-846)Cat>Gat	p.H282D	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000375398.2_Missense_Mutation_p.H282D	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	282					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AACCACTCATGTTTGGGTTTC	0.433											OREG0020098	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001iut.1		NA																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(844-846)CAT>GAT		supervillin isoform 2							136.0	130.0	132.0					10																	29824982		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29824982G>C	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.844C>G	10.37:g.29824982G>C	ENSP00000348128:p.His282Asp		OREG0020098	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	812	SVIL_uc001iuu.1_Intron|SVIL_uc009xld.1_Missense_Mutation_p.H282D	p.H282D	NM_021738	NP_068506	O95425	SVIL_HUMAN			7	1597	-		Breast(68;0.103)	282					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.844C>G	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.748542	0.49257	.	.	ENSG00000197321	ENST00000375398;ENST00000355867	T;T	0.43688	0.94;0.94	5.59	4.68	0.58851	.	0.309595	0.29624	N	0.011631	T	0.38295	0.1035	M	0.62723	1.935	0.80722	D	1	P	0.39391	0.671	B	0.32211	0.142	T	0.26950	-1.0088	9	.	.	.	-7.9504	14.6203	0.68579	0.0701:0.0:0.9299:0.0	.	282	O95425	SVIL_HUMAN	D	282	ENSP00000364547:H282D;ENSP00000348128:H282D	.	H	-	1	0	SVIL	29864988	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.952000	0.49097	1.373000	0.46208	0.650000	0.86243	CAT		0.433	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			9	49	0	0	0	0	9	49				
BLNK	29760	broad.mit.edu	37	10	97976475	97976475	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr10:97976475G>T	ENST00000224337.5	-	7	682	c.541C>A	c.(541-543)Ccc>Acc	p.P181T	BLNK_ENST00000413476.2_Missense_Mutation_p.P181T|BLNK_ENST00000371176.2_Missense_Mutation_p.P181T|BLNK_ENST00000427367.2_Missense_Mutation_p.P181T	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	181	Pro-rich.				B cell differentiation (GO:0030183)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		TCTTCCACGGGGACCACATAA	0.378																																						uc001kls.3		NA																	0				skin(2)	2						c.(541-543)CCC>ACC		B-cell linker isoform 1							103.0	93.0	96.0					10																	97976475		2203	4300	6503	SO:0001583	missense	29760				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr10:97976475G>T	AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585		"""SH2 domain containing"""	14211	protein-coding gene	gene with protein product	"""B-cell adapter containing a SH2 domain protein"", ""B-cell activation"", ""Src homology [SH2] domain-containing leukocyte protein of 65 kD"", ""B cell adaptor containing SH2 domain"""	604515				9697839, 10583958	Standard	NM_013314		Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.541C>A	10.37:g.97976475G>T	ENSP00000224337:p.Pro181Thr					BLNK_uc001kme.3_Missense_Mutation_p.P99T|BLNK_uc001klt.3_Missense_Mutation_p.P95T|BLNK_uc009xvc.2_RNA|BLNK_uc001klu.3_Missense_Mutation_p.P99T|BLNK_uc001klv.3_Intron|BLNK_uc001klw.3_RNA|BLNK_uc001klx.3_Missense_Mutation_p.P181T|BLNK_uc001kly.3_Missense_Mutation_p.P181T|BLNK_uc001klz.3_RNA|BLNK_uc001kma.3_Missense_Mutation_p.P181T|BLNK_uc001kmb.3_5'UTR|BLNK_uc001kmc.3_RNA|BLNK_uc001kmd.3_Missense_Mutation_p.P99T|BLNK_uc009xvd.2_RNA	p.P181T	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)	7	719	-		Colorectal(252;0.083)	181			Pro-rich.		O75498|O75499|Q2MD49	Missense_Mutation	SNP	ENST00000224337.5	37	c.541C>A	CCDS7446.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.752534	0.31046	.	.	ENSG00000095585	ENST00000224337;ENST00000371176;ENST00000427367;ENST00000413476;ENST00000428924	.	.	.	4.98	4.98	0.66077	.	0.382198	0.29459	N	0.012094	T	0.57169	0.2035	M	0.78049	2.395	0.48288	D	0.999624	B;P;B;B;P	0.42961	0.01;0.707;0.057;0.027;0.795	B;B;B;B;B	0.36244	0.017;0.22;0.06;0.021;0.152	T	0.66862	-0.5816	9	0.66056	D	0.02	-14.7769	13.7583	0.62950	0.0:0.0:1.0:0.0	.	181;181;181;181;181	Q2MD54;Q2MD49;Q8WV28-2;Q2MD52;Q8WV28	.;.;.;.;BLNK_HUMAN	T	181	.	ENSP00000224337:P181T	P	-	1	0	BLNK	97966465	1.000000	0.71417	0.998000	0.56505	0.413000	0.31143	4.706000	0.61845	2.305000	0.77605	0.563000	0.77884	CCC		0.378	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049593.1	NM_013314		8	27	1	0	0.000157383	0.000282733	8	27				
SEMA4G	57715	broad.mit.edu	37	10	102740948	102740948	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr10:102740948A>G	ENST00000370250.4	+	13	2025	c.1652A>G	c.(1651-1653)gAg>gGg	p.E551G	SEMA4G_ENST00000210633.3_Missense_Mutation_p.E556G|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_Intron|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000517724.1_Missense_Mutation_p.E556G|MRPL43_ENST00000318325.2_Intron	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	551	PSI.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CAGGACATAGAGAGAGGAAAT	0.483																																						uc001krw.1		NA																	0				breast(1)	1						c.(1666-1668)GAG>GGG		semaphorin 4G							140.0	114.0	122.0					10																	102740948		2203	4300	6503	SO:0001583	missense	57715				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr10:102740948A>G	AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.1652A>G	10.37:g.102740948A>G	ENSP00000359270:p.Glu551Gly					SEMA4G_uc001krv.2_RNA|SEMA4G_uc001krx.2_Missense_Mutation_p.E556G|MRPL43_uc001kry.1_Intron|MRPL43_uc010qpu.1_Intron	p.E556G	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)	13	2051	+		Colorectal(252;0.234)	551			Extracellular (Potential).|PSI.		A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	ENST00000370250.4	37	c.1667A>G		.	.	.	.	.	.	.	.	.	.	A	22.1	4.245087	0.79912	.	.	ENSG00000095539	ENST00000370250;ENST00000517724;ENST00000210633	T;T;T	0.22945	1.93;2.07;2.09	5.25	5.25	0.73442	.	0.105613	0.38217	N	0.001774	T	0.36331	0.0963	L	0.53249	1.67	0.33511	D	0.591168	P;P	0.46987	0.888;0.758	P;P	0.50659	0.647;0.494	T	0.52230	-0.8603	10	0.46703	T	0.11	.	14.3209	0.66487	1.0:0.0:0.0:0.0	.	556;556	A1A5C6;Q9NTN9-2	.;.	G	551;556;556	ENSP00000359270:E551G;ENSP00000430175:E556G;ENSP00000210633:E556G	ENSP00000210633:E556G	E	+	2	0	SEMA4G	102730938	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	3.441000	0.52893	1.976000	0.57569	0.254000	0.18369	GAG		0.483	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			7	56	0	0	0	0	7	56				
KCNQ1	3784	broad.mit.edu	37	11	2594162	2594162	+	Silent	SNP	C	C	T	rs397508129		TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr11:2594162C>T	ENST00000155840.5	+	6	975	c.867C>T	c.(865-867)aaC>aaT	p.N289N	KCNQ1_ENST00000335475.5_Silent_p.N162N	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	289					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	ACGCGGTGAACGAGTCAGGCC	0.597																																						uc001lwn.2		NA																	0				ovary(1)	1						c.(865-867)AAC>AAT		potassium voltage-gated channel, KQT-like	Bepridil(DB01244)|Indapamide(DB00808)						121.0	93.0	102.0					11																	2594162		2202	4299	6501	SO:0001819	synonymous_variant	3784				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding	g.chr11:2594162C>T	AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6294	protein-coding gene	gene with protein product	"""Jervell and Lange-Nielsen syndrome 1"""	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.867C>T	11.37:g.2594162C>T						KCNQ1_uc009ydp.1_Silent_p.N73N|KCNQ1_uc001lwo.2_Silent_p.N162N	p.N289N	NM_000218	NP_000209	P51787	KCNQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	6	975	+		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)	289			Extracellular (Potential).		O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Silent	SNP	ENST00000155840.5	37	c.867C>T	CCDS7736.1																																																																																				0.597	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027382.2	NM_000218		15	19	0	0	0	0	15	19				
OR5M9	390162	broad.mit.edu	37	11	56230205	56230205	+	Missense_Mutation	SNP	G	G	A	rs199694619		TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr11:56230205G>A	ENST00000279791.1	-	1	672	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R225C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					GAGCGCATGCGTAGCACAGCT	0.478													g|||	1	0.000199681	0.0	0.0	5008	,	,		20522	0.001		0.0	False		,,,				2504	0.0					uc010rjj.1		NA																	1	Substitution - Missense(1)		kidney(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(673-675)CGC>TGC		olfactory receptor, family 5, subfamily M,							63.0	61.0	62.0					11																	56230205		2201	4296	6497	SO:0001583	missense	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230205G>A	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"""GPCR / Class A : Olfactory receptors"""	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.673C>T	11.37:g.56230205G>A	ENSP00000279791:p.Arg225Cys						p.R225C	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN			1	673	-	Esophageal squamous(21;0.00448)		225			Cytoplasmic (Potential).		Q6IEW5|Q96RB9	Missense_Mutation	SNP	ENST00000279791.1	37	c.673C>T	CCDS31531.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	10.77	1.443578	0.25987	.	.	ENSG00000150269	ENST00000279791	T	0.00267	8.38	4.39	-3.03	0.05429	GPCR, rhodopsin-like superfamily (1);	0.154695	0.30593	N	0.009285	T	0.00440	0.0014	M	0.87269	2.87	0.09310	N	1	D	0.62365	0.991	D	0.64144	0.922	T	0.37596	-0.9699	10	0.87932	D	0	-2.2295	8.1922	0.31374	0.0915:0.0:0.2186:0.6899	.	225	Q8NGP3	OR5M9_HUMAN	C	225	ENSP00000279791:R225C	ENSP00000279791:R225C	R	-	1	0	OR5M9	55986781	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.466000	0.06672	-0.198000	0.10333	-0.343000	0.07986	CGC		0.478	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		7	10	0	0	0	0	7	10				
MUS81	80198	broad.mit.edu	37	11	65631092	65631092	+	Silent	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr11:65631092G>C	ENST00000308110.4	+	9	1210	c.861G>C	c.(859-861)ctG>ctC	p.L287L	MUS81_ENST00000533035.1_Silent_p.L212L|EFEMP2_ENST00000532648.1_5'Flank|CFL1_ENST00000534769.1_5'Flank	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	287	ERCC4.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GGCCGGAGCTGCTCCGAGAGC	0.632								Homologous recombination																														uc001ofv.3		NA																	0					0						c.(859-861)CTG>CTC	Homologous_recombination	MUS81 endonuclease homolog							36.0	40.0	39.0					11																	65631092		2201	4296	6497	SO:0001819	synonymous_variant	80198				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding	g.chr11:65631092G>C		CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"""SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	606591	"""MUS81 endonuclease homolog (yeast)"", ""MUS81 endonuclease homolog (S. cerevisiae)"""			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.861G>C	11.37:g.65631092G>C						MUS81_uc001ofw.3_RNA|MUS81_uc001ofx.3_5'UTR	p.L287L	NM_025128	NP_079404	Q96NY9	MUS81_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	9	1214	+			287			ERCC4.		Q9H7D9	Silent	SNP	ENST00000308110.4	37	c.861G>C	CCDS8115.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.85|10.85	1.468302|1.468302	0.26335|0.26335	.|.	.|.	ENSG00000172732|ENSG00000172732	ENST00000529374|ENST00000530111	.|.	.|.	.|.	5.12|5.12	0.862|0.862	0.19056|0.19056	.|.	.|.	.|.	.|.	.|.	T|T	0.44201|0.44201	0.1282|0.1282	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.24728|0.24728	-1.0152|-1.0152	4|4	.|.	.|.	.|.	-4.8708|-4.8708	3.3164|3.3164	0.07035|0.07035	0.2634:0.0:0.4055:0.3311|0.2634:0.0:0.4055:0.3311	.|.	.|.	.|.	.|.	P|S	212|190	.|.	.|.	A|C	+|+	1|2	0|0	MUS81|MUS81	65387668|65387668	1.000000|1.000000	0.71417|0.71417	0.900000|0.900000	0.35374|0.35374	0.702000|0.702000	0.40608|0.40608	2.127000|2.127000	0.42035|0.42035	0.356000|0.356000	0.24157|0.24157	-1.042000|-1.042000	0.02369|0.02369	GCT|TGC		0.632	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	NM_025128		3	28	0	0	0	0	3	28				
DPP3	10072	broad.mit.edu	37	11	66262860	66262860	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr11:66262860G>C	ENST00000360510.2	+	14	1542	c.1477G>C	c.(1477-1479)Gag>Cag	p.E493Q	DPP3_ENST00000541961.1_Missense_Mutation_p.E493Q|DPP3_ENST00000532677.1_Missense_Mutation_p.E512Q|DPP3_ENST00000530165.1_Missense_Mutation_p.E463Q|DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000531863.1_Missense_Mutation_p.E513Q|DPP3_ENST00000453114.1_Missense_Mutation_p.E493Q			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	493					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCGGAGCGGGGAGACCTGGGA	0.622																																						uc001oig.1		NA																	0				ovary(1)|skin(1)	2						c.(1477-1479)GAG>CAG		dipeptidyl peptidase III							44.0	41.0	42.0					11																	66262860		2200	4295	6495	SO:0001583	missense	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66262860G>C	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.1477G>C	11.37:g.66262860G>C	ENSP00000353701:p.Glu493Gln					DPP3_uc001oif.1_Missense_Mutation_p.E493Q|DPP3_uc010rpe.1_Missense_Mutation_p.E482Q|DPP3_uc001oih.1_5'Flank	p.E493Q	NM_005700	NP_005691	Q9NY33	DPP3_HUMAN			14	1539	+			493					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	37	c.1477G>C	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	G	32	5.132134	0.94473	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000543807	T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.40719	0.1128	L	0.43598	1.365	0.80722	D	1	D;P	0.65815	0.995;0.747	P;B	0.59889	0.865;0.398	T	0.02081	-1.1217	10	0.40728	T	0.16	.	17.6719	0.88221	0.0:0.0:1.0:0.0	.	512;493	G3V1D3;Q9NY33	.;DPP3_HUMAN	Q	513;512;493;493;493;463;391	ENSP00000432782:E513Q;ENSP00000435284:E512Q;ENSP00000353701:E493Q;ENSP00000389943:E493Q;ENSP00000440502:E493Q;ENSP00000436941:E463Q	ENSP00000353701:E493Q	E	+	1	0	DPP3	66019436	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	8.647000	0.91057	2.778000	0.95560	0.591000	0.81541	GAG		0.622	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			4	27	0	0	0	0	4	27				
ACTN3	89	broad.mit.edu	37	11	66326764	66326764	+	lincRNA	SNP	G	G	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr11:66326764G>T	ENST00000504911.1	-	0	220				ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA																							CAGGAGGTGCGGGCGTTGCTG	0.667																																						uc001oio.1		NA																	0					0						c.(1333-1335)CGG>CTG		actinin, alpha 3							35.0	41.0	39.0					11																	66326764		2196	4289	6485			89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66326764G>T																													11.37:g.66326764G>T						ACTN3_uc010rpi.1_RNA	p.R445L	NM_001104	NP_001095	Q08043	ACTN3_HUMAN			12	1352	+			445			Spectrin 2.			Missense_Mutation	SNP	ENST00000504911.1	37	c.1334G>T																																																																																					0.667	CTD-3074O7.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000362463.1			9	44	1	0	1.77e-08	3.36e-08	9	44				
PC	5091	broad.mit.edu	37	11	66617734	66617734	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr11:66617734T>C	ENST00000393958.2	-	18	2768	c.2675A>G	c.(2674-2676)aAg>aGg	p.K892R	PC_ENST00000529047.1_Missense_Mutation_p.K12R|PC_ENST00000528224.1_5'Flank|PC_ENST00000393955.2_Missense_Mutation_p.K892R|PC_ENST00000393960.1_Missense_Mutation_p.K892R	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	892					biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CACATAGGCCTTCTTGACCTC	0.602																																						uc001ojn.1		NA																	0				ovary(2)|lung(1)|kidney(1)	4						c.(2674-2676)AAG>AGG		pyruvate carboxylase precursor	Biotin(DB00121)|Pyruvic acid(DB00119)						91.0	83.0	86.0					11																	66617734		2200	4295	6495	SO:0001583	missense	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66617734T>C	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.2675A>G	11.37:g.66617734T>C	ENSP00000377530:p.Lys892Arg					PC_uc001ojo.1_Missense_Mutation_p.K892R|PC_uc001ojp.1_Missense_Mutation_p.K892R|PC_uc001ojm.1_5'Flank	p.K892R	NM_022172	NP_071504	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	17	2724	-		Melanoma(852;0.0525)	892					B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	c.2675A>G	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	T	12.55	1.970864	0.34754	.	.	ENSG00000173599	ENST00000529047;ENST00000393955;ENST00000393958;ENST00000393960	D;D;D;D	0.96136	-1.73;-3.92;-3.92;-3.92	4.93	4.93	0.64822	Carboxylase, conserved domain (1);	0.102047	0.64402	D	0.000004	D	0.91185	0.7223	L	0.29908	0.895	0.80722	D	1	B	0.16603	0.018	B	0.20955	0.032	D	0.87648	0.2526	10	0.32370	T	0.25	-36.7823	12.5692	0.56326	0.0:0.0:0.0:1.0	.	892	P11498	PYC_HUMAN	R	12;892;892;892	ENSP00000435905:K12R;ENSP00000377527:K892R;ENSP00000377530:K892R;ENSP00000377532:K892R	ENSP00000377527:K892R	K	-	2	0	PC	66374310	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.516000	0.60496	2.081000	0.62600	0.379000	0.24179	AAG		0.602	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		11	41	0	0	0	0	11	41				
CHKA	1119	broad.mit.edu	37	11	67821473	67821473	+	Silent	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr11:67821473C>T	ENST00000265689.4	-	12	1382	c.1356G>A	c.(1354-1356)aaG>aaA	p.K452K	RP11-802E16.3_ENST00000529934.1_RNA|CHKA_ENST00000356135.5_Silent_p.K434K|RP11-802E16.3_ENST00000526897.1_RNA|RP11-802E16.3_ENST00000534517.1_RNA|CHKA_ENST00000533728.1_5'UTR	NM_001277.2	NP_001268.2	P35790	CHKA_HUMAN	choline kinase alpha	452					CDP-choline pathway (GO:0006657)|choline metabolic process (GO:0019695)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline binding (GO:0033265)|choline kinase activity (GO:0004103)|cholinesterase activity (GO:0004104)|drug binding (GO:0008144)|ethanolamine kinase activity (GO:0004305)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13					Choline(DB00122)	CAAGCTTCCTCTTCTGGTGGA	0.577																																						uc001onj.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1354-1356)AAG>AAA		choline kinase alpha isoform a	Choline(DB00122)						138.0	104.0	116.0					11																	67821473		2200	4294	6494	SO:0001819	synonymous_variant	1119				lipid transport|phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity	g.chr11:67821473C>T	D10704	CCDS8178.1, CCDS8179.1	11q13.1	2008-02-05	2004-04-19	2004-04-21	ENSG00000110721	ENSG00000110721	2.7.1.32		1937	protein-coding gene	gene with protein product		118491	"""choline kinase"""	CHK		1618328, 15003397	Standard	NM_001277		Approved	CKI	uc001onj.3	P35790	OTTHUMG00000167424	ENST00000265689.4:c.1356G>A	11.37:g.67821473C>T						CHKA_uc001onk.2_Silent_p.K434K	p.K452K	NM_001277	NP_001268	P35790	CHKA_HUMAN			12	1570	-			452					Q8NE29	Silent	SNP	ENST00000265689.4	37	c.1356G>A	CCDS8178.1																																																																																				0.577	CHKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394570.1	NM_001277		5	16	0	0	0	0	5	16				
VPS11	55823	broad.mit.edu	37	11	118938701	118938701	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr11:118938701G>A	ENST00000300793.6	+	1	209	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	VPS11_ENST00000527798.1_3'UTR|RP11-110I1.13_ENST00000607709.1_RNA|RP11-110I1.14_ENST00000607857.1_lincRNA	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	56					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		GACTCAGGCCGAGGGAGCCTG	0.577																																						uc010ryx.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(166-168)CGA>CAA		vacuolar protein sorting 11							30.0	32.0	31.0					11																	118938701		1952	4142	6094	SO:0001583	missense	55823				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding	g.chr11:118938701G>A	AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.167G>A	11.37:g.118938701G>A	ENSP00000475301:p.Arg56Gln					VPS11_uc010ryy.1_5'UTR	p.R56Q	NM_021729	NP_068375	Q9H270	VPS11_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)	1	209	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	56					Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Missense_Mutation	SNP	ENST00000300793.6	37	c.167G>A																																																																																					0.577	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021729		4	10	0	0	0	0	4	10				
ERC1	23085	broad.mit.edu	37	12	1289706	1289706	+	Splice_Site	SNP	A	A	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr12:1289706A>C	ENST00000397203.2	+	9	2144	c.1738A>C	c.(1738-1740)Att>Ctt	p.I580L	ERC1_ENST00000543086.3_Splice_Site_p.I552L|ERC1_ENST00000355446.5_Splice_Site_p.I580L|ERC1_ENST00000360905.4_Splice_Site_p.I580L|ERC1_ENST00000589028.1_Splice_Site_p.I580L|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000546231.2_Splice_Site_p.I580L			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	580					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GTACATTTAGATTGAAAATCT	0.368																																						uc001qjb.2		NA																	0				ovary(2)|lung(2)|breast(1)	5						c.(1738-1740)ATT>CTT		RAB6-interacting protein 2 isoform epsilon							64.0	65.0	64.0					12																	1289706		2203	4300	6503	SO:0001630	splice_region_variant	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1289706A>C	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.1738-1A>C	12.37:g.1289706A>C						ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Missense_Mutation_p.I552L|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_Missense_Mutation_p.I580L|ERC1_uc010sdv.1_Missense_Mutation_p.I328L|ERC1_uc009zdp.2_Missense_Mutation_p.I220L	p.I580L	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		9	1979	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		580			Potential.		A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	c.1738A>C	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	A	16.25	3.069411	0.55539	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	T;T;T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.50240	0.1604	L	0.58302	1.8	0.80722	D	1	B;B;B;B;B	0.28055	0.007;0.149;0.062;0.03;0.199	B;B;B;B;B	0.35688	0.036;0.109;0.056;0.045;0.208	T	0.43718	-0.9374	9	.	.	.	-10.2917	16.2291	0.82321	1.0:0.0:0.0:0.0	.	328;220;552;552;580	F5H327;F5GZU8;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;.;RB6I2_HUMAN	L	552;580;552;552;280;552;552;280;580;580;580;552;328;220	ENSP00000340054:I552L;ENSP00000380386:I580L;ENSP00000438546:I552L;ENSP00000442976:I280L;ENSP00000442739:I580L;ENSP00000347621:I580L;ENSP00000354158:I580L;ENSP00000410064:I552L	.	I	+	1	0	ERC1	1159967	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	9.191000	0.94940	2.238000	0.73509	0.528000	0.53228	ATT		0.368	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064	Missense_Mutation	17	32	0	0	0	0	17	32				
GDF3	9573	broad.mit.edu	37	12	7843292	7843292	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr12:7843292G>T	ENST00000329913.3	-	2	324	c.277C>A	c.(277-279)Ctt>Att	p.L93I		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	93					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TTTGGGTAAAGAAAGAAACCT	0.403																																						uc001qte.2		NA																	0				skin(3)|ovary(1)|lung(1)|central_nervous_system(1)	6						c.(277-279)CTT>ATT		growth differentiation factor 3 precursor							33.0	39.0	37.0					12																	7843292		2196	4292	6488	SO:0001583	missense	9573				eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity	g.chr12:7843292G>T	AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"""Endogenous ligands"""	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.277C>A	12.37:g.7843292G>T	ENSP00000331745:p.Leu93Ile						p.L93I	NM_020634	NP_065685	Q9NR23	GDF3_HUMAN			2	313	-			93					Q8NEJ4	Missense_Mutation	SNP	ENST00000329913.3	37	c.277C>A	CCDS8581.1	.	.	.	.	.	.	.	.	.	.	G	5.769	0.326184	0.10900	.	.	ENSG00000184344	ENST00000329913	T	0.64260	-0.09	3.96	0.737	0.18314	Transforming growth factor-beta, N-terminal (1);	0.481200	0.22058	N	0.065209	T	0.44644	0.1303	L	0.43923	1.385	0.09310	N	1	B	0.20368	0.044	B	0.23419	0.046	T	0.11665	-1.0578	10	0.19147	T	0.46	.	3.4128	0.07365	0.1048:0.1704:0.5502:0.1746	.	93	Q9NR23	GDF3_HUMAN	I	93	ENSP00000331745:L93I	ENSP00000331745:L93I	L	-	1	0	GDF3	7734559	0.001000	0.12720	0.553000	0.28255	0.799000	0.45148	-0.195000	0.09546	0.776000	0.33473	0.456000	0.33151	CTT		0.403	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399717.1			28	56	1	0	4.88e-14	9.43e-14	28	56				
SLCO1C1	53919	broad.mit.edu	37	12	20876088	20876088	+	Missense_Mutation	SNP	C	C	A	rs185836507		TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr12:20876088C>A	ENST00000266509.2	+	9	1454	c.1086C>A	c.(1084-1086)agC>agA	p.S362R	SLCO1C1_ENST00000540354.1_Missense_Mutation_p.S313R|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.S362R|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.S362R|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.S244R	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	362					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	TATGTACAAGCACTGTTCAGT	0.378																																						uc001rej.3		NA																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(1084-1086)AGC>AGA		solute carrier organic anion transporter family,							191.0	172.0	178.0					12																	20876088		2203	4300	6503	SO:0001583	missense	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20876088C>A	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1086C>A	12.37:g.20876088C>A	ENSP00000266509:p.Ser362Arg					SLCO1C1_uc010sii.1_Missense_Mutation_p.S362R|SLCO1C1_uc010sij.1_Missense_Mutation_p.S313R|SLCO1C1_uc009zip.2_Missense_Mutation_p.S196R|SLCO1C1_uc001rei.2_Missense_Mutation_p.S362R|SLCO1C1_uc010sik.1_Missense_Mutation_p.S244R	p.S362R	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN			10	1441	+	Esophageal squamous(101;0.149)		362			Helical; Name=7; (Potential).		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	c.1086C>A	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.690469	0.48097	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.81247	0.28;0.28;0.28;0.28;-1.47	4.48	3.58	0.41010	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.091907	0.85682	D	0.000000	D	0.88032	0.6328	M	0.80847	2.515	0.42002	D	0.990897	D;D;D;D	0.65815	0.995;0.992;0.984;0.984	D;D;D;D	0.75020	0.923;0.985;0.947;0.921	D	0.88373	0.2996	10	0.59425	D	0.04	.	10.5099	0.44855	0.0:0.8551:0.0:0.1449	.	244;313;362;362	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	R	362;313;362;362;244	ENSP00000444149:S362R;ENSP00000438665:S313R;ENSP00000266509:S362R;ENSP00000370964:S362R;ENSP00000444527:S244R	ENSP00000266509:S362R	S	+	3	2	SLCO1C1	20767355	0.884000	0.30299	1.000000	0.80357	0.503000	0.33858	0.019000	0.13444	2.475000	0.83589	0.561000	0.74099	AGC		0.378	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		28	71	1	0	4.88e-14	9.43e-14	28	71				
SLC38A1	81539	broad.mit.edu	37	12	46592498	46592498	+	Silent	SNP	T	T	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr12:46592498T>C	ENST00000398637.5	-	14	1726	c.1032A>G	c.(1030-1032)aaA>aaG	p.K344K	SLC38A1_ENST00000549633.1_5'Flank|SLC38A1_ENST00000546893.1_Silent_p.K344K|SLC38A1_ENST00000549049.1_Silent_p.K344K|SLC38A1_ENST00000439706.1_Silent_p.K344K|SLC38A1_ENST00000552197.1_Silent_p.K344K	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	344					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TACTCTGATATTTGTGAAGGA	0.428																																						uc001rpa.2		NA																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(1030-1032)AAA>AAG		amino acid transporter system A1							118.0	113.0	115.0					12																	46592498		1967	4171	6138	SO:0001819	synonymous_variant	81539				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	g.chr12:46592498T>C	AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"""Solute carriers"""	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.1032A>G	12.37:g.46592498T>C						SLC38A1_uc001rpb.2_Silent_p.K344K|SLC38A1_uc001rpc.2_Silent_p.K344K|SLC38A1_uc001rpd.2_Silent_p.K344K|SLC38A1_uc001rpe.2_Silent_p.K344K|SLC38A1_uc009zkj.1_Silent_p.K344K	p.K344K	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)		14	1290	-	Lung SC(27;0.137)|Renal(347;0.236)		344			Extracellular (Potential).		Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Silent	SNP	ENST00000398637.5	37	c.1032A>G	CCDS41774.1																																																																																				0.428	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2			16	42	0	0	0	0	16	42				
SCN8A	6334	broad.mit.edu	37	12	52200796	52200796	+	Silent	SNP	C	C	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr12:52200796C>A	ENST00000354534.6	+	27	5704	c.5526C>A	c.(5524-5526)atC>atA	p.I1842I	AC068987.1_ENST00000599343.1_5'Flank|RP11-923I11.3_ENST00000565518.1_lincRNA|SCN8A_ENST00000545061.1_Silent_p.I1801I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1842					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	GGGATCGCATCCACTGCTTGG	0.567																																						uc001ryw.2		NA																	0				ovary(7)	7						c.(5524-5526)ATC>ATA		sodium channel, voltage gated, type VIII, alpha	Lamotrigine(DB00555)						89.0	93.0	91.0					12																	52200796		2122	4259	6381	SO:0001819	synonymous_variant	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52200796C>A	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.5526C>A	12.37:g.52200796C>A						uc001rzb.1_5'Flank	p.I1842I	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	27	5704	+			1842					B9VWG8|O95788|Q9NYX2|Q9UPB2	Silent	SNP	ENST00000354534.6	37	c.5526C>A	CCDS44891.1																																																																																				0.567	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		43	110	1	0	7.63e-17	1.49e-16	43	110				
CALCOCO1	57658	broad.mit.edu	37	12	54106918	54106918	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr12:54106918G>C	ENST00000550804.1	-	14	1924	c.1864C>G	c.(1864-1866)Cct>Gct	p.P622A	CALCOCO1_ENST00000430117.2_Missense_Mutation_p.P537A|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.P621A|CALCOCO1_ENST00000548263.1_Missense_Mutation_p.P622A			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	622	C-terminal AD (CTNNB1 binding site). {ECO:0000250}.				intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CCCAGTTCAGGAAGCAGTAAG	0.577																																						uc001sef.2		NA																	0				ovary(1)	1						c.(1864-1866)CCT>GCT		coiled-coil transcriptional coactivator isoform							149.0	118.0	128.0					12																	54106918		2203	4300	6503	SO:0001583	missense	57658				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr12:54106918G>C	AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"""coiled-coil leucine zipper coactivator 1"", ""inorganic pyrophosphatase activator"""					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.1864C>G	12.37:g.54106918G>C	ENSP00000449960:p.Pro622Ala					CALCOCO1_uc001see.2_Missense_Mutation_p.P123A|CALCOCO1_uc010som.1_Missense_Mutation_p.P537A|CALCOCO1_uc010son.1_Missense_Mutation_p.P499A|CALCOCO1_uc001seh.2_Missense_Mutation_p.P622A|CALCOCO1_uc009znd.2_Missense_Mutation_p.P621A|CALCOCO1_uc001seg.2_Missense_Mutation_p.P447A	p.P622A	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN			14	2008	-			622			C-terminal AD (CTNNB1 binding site) (By similarity).		B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	ENST00000550804.1	37	c.1864C>G	CCDS8864.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662591	0.67700	.	.	ENSG00000012822	ENST00000342760;ENST00000430117;ENST00000262059;ENST00000413257;ENST00000548263;ENST00000550804	T;T;T;T	0.68025	-0.3;1.03;1.77;1.37	4.65	4.65	0.58169	.	0.000000	0.33895	N	0.004450	T	0.69922	0.3165	N	0.24115	0.695	0.51012	D	0.999909	D;D;D;D;D;D	0.76494	0.999;0.986;0.999;0.999;0.976;0.993	D;P;D;D;P;D	0.83275	0.991;0.84;0.996;0.991;0.696;0.971	T	0.68349	-0.5432	10	0.30854	T	0.27	-8.3859	14.82	0.70065	0.0:0.0:1.0:0.0	.	537;621;622;537;622;299	E9PAU0;Q9P1Z2-3;Q9P1Z2-2;E7EPK7;Q9P1Z2;E9PGB0	.;.;.;.;CACO1_HUMAN;.	A	299;537;621;560;622;622	ENSP00000397189:P537A;ENSP00000262059:P621A;ENSP00000447647:P622A;ENSP00000449960:P622A	ENSP00000262059:P621A	P	-	1	0	CALCOCO1	52393185	1.000000	0.71417	0.999000	0.59377	0.883000	0.51084	5.136000	0.64783	2.300000	0.77407	0.462000	0.41574	CCT		0.577	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407233.2	NM_020898		31	69	0	0	0	0	31	69				
OR6C70	390327	broad.mit.edu	37	12	55863389	55863389	+	Silent	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr12:55863389G>A	ENST00000327335.4	-	1	533	c.534C>T	c.(532-534)gaC>gaT	p.D178D	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						TAAGAGAAATGTCACAAATGA	0.348																																						uc010spn.1		NA																	0				skin(1)	1						c.(532-534)GAC>GAT		olfactory receptor, family 6, subfamily C,							99.0	103.0	102.0					12																	55863389		2203	4300	6503	SO:0001819	synonymous_variant	390327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55863389G>A		CCDS31825.1	12q13.2	2013-09-23			ENSG00000184954	ENSG00000184954		"""GPCR / Class A : Olfactory receptors"""	31299	protein-coding gene	gene with protein product							Standard	NM_001005499		Approved		uc010spn.2	A6NIJ9	OTTHUMG00000171127	ENST00000327335.4:c.534C>T	12.37:g.55863389G>A							p.D178D	NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN			1	534	-			178			Extracellular (Potential).			Silent	SNP	ENST00000327335.4	37	c.534C>T	CCDS31825.1																																																																																				0.348	OR6C70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411820.1			32	94	0	0	0	0	32	94				
LRP1	4035	broad.mit.edu	37	12	57592066	57592066	+	Missense_Mutation	SNP	C	C	T	rs553927301		TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr12:57592066C>T	ENST00000243077.3	+	59	9876	c.9410C>T	c.(9409-9411)aCg>aTg	p.T3137M		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3137					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCCTATCGGACGGTGCTGGTC	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		21672	0.0		0.0	False		,,,				2504	0.001					uc001snd.2		NA																	0				ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(9409-9411)ACG>ATG		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						78.0	78.0	78.0					12																	57592066		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57592066C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.9410C>T	12.37:g.57592066C>T	ENSP00000243077:p.Thr3137Met						p.T3137M	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	59	9876	+			3137			LDL-receptor class B 27.|Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.9410C>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.182724	0.57800	.	.	ENSG00000123384	ENST00000243077	D	0.93547	-3.24	4.66	4.66	0.58398	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.073656	0.50627	D	0.000103	D	0.95030	0.8391	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	D	0.94818	0.7984	10	0.49607	T	0.09	.	16.8313	0.85945	0.0:1.0:0.0:0.0	.	3137	Q07954	LRP1_HUMAN	M	3137	ENSP00000243077:T3137M	ENSP00000243077:T3137M	T	+	2	0	LRP1	55878333	0.998000	0.40836	0.974000	0.42286	0.995000	0.86356	3.825000	0.55730	2.564000	0.86499	0.561000	0.74099	ACG		0.637	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		11	32	0	0	0	0	11	32				
CPSF6	11052	broad.mit.edu	37	12	69656338	69656338	+	Nonstop_Mutation	SNP	A	A	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr12:69656338A>G	ENST00000435070.2	+	9	1765	c.1655A>G	c.(1654-1656)tAg>tGg	p.*552W	CPSF6_ENST00000551516.1_Missense_Mutation_p.R55G|CPSF6_ENST00000266679.8_Nonstop_Mutation_p.*589W|CPSF6_ENST00000456847.3_Nonstop_Mutation_p.*479W	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	0					mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			CGTCATCGTTAGAAGGTGGGT	0.443																																						uc001sut.3		NA																	0					0						c.(1654-1656)TAG>TGG		cleavage and polyadenylation specific factor 6,							184.0	123.0	144.0					12																	69656338		2203	4300	6503	SO:0001578	stop_lost	11052				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr12:69656338A>G	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.1655A>G	12.37:g.69656338A>G	ENSP00000391774:p.*552Trpext*30					CPSF6_uc001suu.3_Nonstop_Mutation_p.*589W|CPSF6_uc010stk.1_Nonstop_Mutation_p.*184W	p.*552W	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)		9	1765	+	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		552					A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Nonstop_Mutation	SNP	ENST00000435070.2	37	c.1655A>G	CCDS8988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.21|16.21	3.059049|3.059049	0.55325|0.55325	.|.	.|.	ENSG00000111605|ENSG00000111605	ENST00000551516|ENST00000435070;ENST00000456847;ENST00000266679	.|.	.|.	.|.	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	.|.	.|.	.|.	.|.	T|.	0.60869|.	0.2302|.	.|.	.|.	.|.	0.32265|0.32265	N|N	0.569598|0.569598	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.66999|.	-0.5781|.	4|.	.|.	.|.	.|.	.|.	16.0395|16.0395	0.80654|0.80654	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	G|W	55|552;479;589	.|.	.|.	R|X	+|+	1|2	2|0	CPSF6|CPSF6	67942605|67942605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	5.504000|5.504000	0.66968|0.66968	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	AGA|TAG		0.443	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	NM_007007		6	33	0	0	0	0	6	33				
VEZT	55591	broad.mit.edu	37	12	95694417	95694417	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr12:95694417G>C	ENST00000436874.1	+	12	2413	c.2308G>C	c.(2308-2310)Gaa>Caa	p.E770Q	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.E722Q	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	770					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						ACAAATAATAGAAGAAAATAA	0.383																																						uc001tdz.2		NA																	0				ovary(1)	1						c.(2308-2310)GAA>CAA		vezatin, adherens junctions transmembrane							29.0	27.0	28.0					12																	95694417		1822	4076	5898	SO:0001583	missense	55591					acrosomal vesicle|adherens junction|integral to membrane|nucleus		g.chr12:95694417G>C	AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.2308G>C	12.37:g.95694417G>C	ENSP00000410083:p.Glu770Gln					VEZT_uc009ztb.1_RNA|VEZT_uc009ztc.1_Missense_Mutation_p.E135Q|VEZT_uc001tdy.2_RNA	p.E770Q	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN			12	2413	+			770					Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	c.2308G>C	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	g	0.050	-1.251973	0.01469	.	.	ENSG00000028203	ENST00000436874;ENST00000261219;ENST00000397796	T;T	0.15834	2.39;2.39	5.65	0.261	0.15592	.	0.675746	0.15348	N	0.267088	T	0.08582	0.0213	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38585	-0.9654	10	0.18710	T	0.47	-31.2236	9.5351	0.39218	0.2001:0.2584:0.5416:0.0	.	770	Q9HBM0	VEZA_HUMAN	Q	770;722;770	ENSP00000410083:E770Q;ENSP00000261219:E722Q	ENSP00000261219:E722Q	E	+	1	0	VEZT	94218548	0.899000	0.30636	0.101000	0.21167	0.018000	0.09664	1.273000	0.33121	0.039000	0.15632	-0.127000	0.14921	GAA		0.383	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		3	32	0	0	0	0	3	32				
NAA25	80018	broad.mit.edu	37	12	112518864	112518864	+	Splice_Site	SNP	T	T	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr12:112518864T>G	ENST00000261745.4	-	5	725	c.477A>C	c.(475-477)caA>caC	p.Q159H		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	159						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CCATACTCACTTGCATAATTA	0.343																																						uc001ttm.2		NA																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(475-477)CAA>CAC		mitochondrial distribution and morphology 20							160.0	170.0	166.0					12																	112518864		2203	4300	6503	SO:0001630	splice_region_variant	80018					cytoplasm	protein binding	g.chr12:112518864T>G	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.477+1A>C	12.37:g.112518864T>G						NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Missense_Mutation_p.Q131H|NAA25_uc009zwa.1_Missense_Mutation_p.Q159H	p.Q159H	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN			5	497	-			159					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	37	c.477A>C	CCDS9159.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.2|20.2	3.949883|3.949883	0.73787|0.73787	.|.	.|.	ENSG00000111300|ENSG00000111300	ENST00000547133|ENST00000261745	.|T	.|0.35048	.|1.33	5.3|5.3	2.9|2.9	0.33743|0.33743	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57272|0.57272	0.2042|0.2042	M|M	0.84948|0.84948	2.725|2.725	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.83275	.|0.996;0.996	T|T	0.57423|0.57423	-0.7814|-0.7814	5|9	.|.	.|.	.|.	-11.4347|-11.4347	5.5316|5.5316	0.16987|0.16987	0.0:0.4206:0.0:0.5794|0.0:0.4206:0.0:0.5794	.|.	.|159;159	.|A8K8X0;Q14CX7	.|.;NAA25_HUMAN	L|H	121|159	.|ENSP00000261745:Q159H	.|.	I|Q	-|-	1|3	0|2	NAA25|NAA25	111003247|111003247	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.552000|1.552000	0.36244|0.36244	0.927000|0.927000	0.37143|0.37143	0.533000|0.533000	0.62120|0.62120	ATC|CAA		0.343	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953	Missense_Mutation	35	157	0	0	0	0	35	157				
UBC	7316	broad.mit.edu	37	12	125397805	125397805	+	Silent	SNP	G	G	C	rs569673768	byFrequency	TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr12:125397805G>C	ENST00000536769.1	-	1	2089	c.513C>G	c.(511-513)ccC>ccG	p.P171P	UBC_ENST00000339647.5_Silent_p.P171P|UBC_ENST00000538617.1_Intron|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000546120.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	171	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGGTGTCACTGGGCTCCACCT	0.517													-|||	10	0.00199681	0.0008	0.0	5008	,	,		27794	0.0		0.005	False		,,,				2504	0.0041					uc001ugs.3		NA																	0				ovary(2)	2						c.(511-513)CCC>CCG		ubiquitin C							130.0	127.0	128.0					12																	125397805		2203	4297	6500	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397805G>C		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.513C>G	12.37:g.125397805G>C						UBC_uc001ugr.2_5'Flank|UBC_uc001ugu.1_Silent_p.P171P|UBC_uc001ugt.2_Silent_p.P171P|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_Silent_p.P19P	p.P171P	NM_021009	NP_066289	P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	2	961	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		171			Ubiquitin-like 3.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000536769.1	37	c.513C>G	CCDS9260.1																																																																																				0.517	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		4	84	0	0	0	0	4	84				
LCP1	3936	broad.mit.edu	37	13	46716545	46716545	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr13:46716545A>C	ENST00000398576.2	-	16	1772	c.1384T>G	c.(1384-1386)Tac>Gac	p.Y462D	LCP1_ENST00000323076.2_Missense_Mutation_p.Y462D|LCP1_ENST00000435666.2_Missense_Mutation_p.Y31D			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	462	Actin-binding 2.|CH 3. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TCTACCGCGTAGTTACAATTC	0.383			T	BCL6	NHL																																	uc001vaz.3		NA		Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL 		0				lung(4)|ovary(3)	7						c.(1384-1386)TAC>GAC		L-plastin							122.0	104.0	110.0					13																	46716545		2203	4300	6503	SO:0001583	missense	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46716545A>C	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1384T>G	13.37:g.46716545A>C	ENSP00000381581:p.Tyr462Asp					LCP1_uc010ack.2_Missense_Mutation_p.Y31D|LCP1_uc001vay.3_Missense_Mutation_p.Y59D|LCP1_uc001vba.3_Missense_Mutation_p.Y462D	p.Y462D	NM_002298	NP_002289	P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	13	1510	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	462			Actin-binding 2.|CH 3.		B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	c.1384T>G	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.990597	0.74589	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000435666	D;D;D	0.95171	-3.63;-3.63;-3.63	5.64	5.64	0.86602	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97455	0.9167	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.997;1.0	D	0.98237	1.0486	10	0.87932	D	0	-12.9199	15.0383	0.71767	1.0:0.0:0.0:0.0	.	31;462	B4DUA0;P13796	.;PLSL_HUMAN	D	462;462;31	ENSP00000315757:Y462D;ENSP00000381581:Y462D;ENSP00000405134:Y31D	ENSP00000315757:Y462D	Y	-	1	0	LCP1	45614546	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	9.339000	0.96797	2.151000	0.67156	0.533000	0.62120	TAC		0.383	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		10	28	0	0	0	0	10	28				
KLHL1	57626	broad.mit.edu	37	13	70535472	70535472	+	Missense_Mutation	SNP	G	G	A	rs139916031		TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr13:70535472G>A	ENST00000377844.4	-	3	1544	c.785C>T	c.(784-786)gCt>gTt	p.A262V	KLHL1_ENST00000545028.1_Missense_Mutation_p.A69V	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	262	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GTCCCAGAGAGCATTGGGGTC	0.388																																						uc001vip.2		NA																	0					0						c.(784-786)GCT>GTT		kelch-like 1 protein		G	VAL/ALA	0,4406		0,0,2203	158.0	139.0	145.0		785	5.1	1.0	13	dbSNP_134	145	2,8598	2.2+/-6.3	0,2,4298	yes	missense	KLHL1	NM_020866.2	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	262/749	70535472	2,13004	2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70535472G>A	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.785C>T	13.37:g.70535472G>A	ENSP00000367075:p.Ala262Val					KLHL1_uc010thm.1_Missense_Mutation_p.A201V	p.A262V	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	3	1579	-		Breast(118;0.000162)	262			BTB.		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.785C>T	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445759	0.84101	0.0	2.33E-4	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.67523	-0.27;-0.27	5.08	5.08	0.68730	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000004	T	0.74015	0.3661	L	0.41236	1.265	0.58432	D	0.999994	D;P	0.56521	0.976;0.95	P;P	0.59546	0.859;0.859	T	0.76503	-0.2935	10	0.66056	D	0.02	.	18.8503	0.92225	0.0:0.0:1.0:0.0	.	262;262	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	V	262;69	ENSP00000367075:A262V;ENSP00000439602:A69V	ENSP00000367075:A262V	A	-	2	0	KLHL1	69433473	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.805000	0.99149	2.531000	0.85337	0.563000	0.77884	GCT		0.388	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		18	33	0	0	0	0	18	33				
MYCBP2	23077	broad.mit.edu	37	13	77742684	77742684	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr13:77742684G>C	ENST00000544440.2	-	40	5896	c.5879C>G	c.(5878-5880)tCg>tGg	p.S1960W	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S1960W|MYCBP2_ENST00000407578.2_Missense_Mutation_p.S1998W					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCTATCTGTCGACTGATTAGG	0.493																																						uc001vkf.2		NA																	0				ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(5878-5880)TCG>TGG		MYC binding protein 2							229.0	198.0	208.0					13																	77742684		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77742684G>C	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.5879C>G	13.37:g.77742684G>C	ENSP00000444596:p.Ser1960Trp					MYCBP2_uc010aev.2_Missense_Mutation_p.S1364W	p.S1960W	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	41	5970	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	1960						Missense_Mutation	SNP	ENST00000544440.2	37	c.5879C>G		.	.	.	.	.	.	.	.	.	.	G	32	5.164562	0.94727	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.33438	1.41;1.41;1.41	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.49423	0.1556	L	0.40543	1.245	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.28267	-1.0049	10	0.41790	T	0.15	.	20.0567	0.97653	0.0:0.0:1.0:0.0	.	1960	O75592	MYCB2_HUMAN	W	1960;1998;1960	ENSP00000349892:S1960W;ENSP00000384288:S1998W;ENSP00000444596:S1960W	ENSP00000349892:S1960W	S	-	2	0	MYCBP2	76640685	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.752000	0.94435	0.650000	0.86243	TCG		0.493	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		18	72	0	0	0	0	18	72				
CTAGE5	4253	broad.mit.edu	37	14	39769088	39769088	+	Silent	SNP	A	A	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr14:39769088A>T	ENST00000280083.3	+	9	1007	c.693A>T	c.(691-693)gtA>gtT	p.V231V	RP11-407N17.3_ENST00000603904.1_Silent_p.V202V|CTAGE5_ENST00000341502.5_Silent_p.V231V|CTAGE5_ENST00000557038.1_Silent_p.V151V|CTAGE5_ENST00000553352.1_Silent_p.V202V|CTAGE5_ENST00000556148.1_Silent_p.V156V|CTAGE5_ENST00000396165.4_Silent_p.V202V|CTAGE5_ENST00000396158.2_Silent_p.V236V|RP11-407N17.3_ENST00000553728.1_Silent_p.V766V|CTAGE5_ENST00000341749.3_Silent_p.V219V|CTAGE5_ENST00000348007.3_Silent_p.V231V			O15320	CTGE5_HUMAN	CTAGE family, member 5	231					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		AAGCTGAAGTATGGAAAGAAC	0.318																																						uc001wvg.3		NA																	0					0						c.(691-693)GTA>GTT		CTAGE family, member 5 isoform 1							90.0	94.0	93.0					14																	39769088		2203	4299	6502	SO:0001819	synonymous_variant	4253						enzyme activator activity|protein binding	g.chr14:39769088A>T	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.693A>T	14.37:g.39769088A>T						CTAGE5_uc010tqe.1_Silent_p.V193V|CTAGE5_uc001wuz.3_Silent_p.V219V|CTAGE5_uc001wuy.3_Silent_p.V151V|CTAGE5_uc001wvb.3_Silent_p.V202V|CTAGE5_uc001wvc.3_Silent_p.V176V|CTAGE5_uc001wva.3_Silent_p.V202V|CTAGE5_uc001wve.1_Silent_p.V207V|CTAGE5_uc001wvh.3_Silent_p.V231V|CTAGE5_uc001wvf.3_Silent_p.V156V|CTAGE5_uc001wvi.3_Silent_p.V236V|CTAGE5_uc010amz.2_5'UTR|CTAGE5_uc001wvj.3_Silent_p.V202V	p.V231V	NM_005930	NP_005921	O15320	CTGE5_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)	9	1029	+	Hepatocellular(127;0.213)		231			Potential.		B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Silent	SNP	ENST00000280083.3	37	c.693A>T	CCDS9674.1																																																																																				0.318	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		8	75	0	0	0	0	8	75				
PRKCH	5583	broad.mit.edu	37	14	61997130	61997130	+	Silent	SNP	C	C	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr14:61997130C>A	ENST00000332981.5	+	12	1963	c.1578C>A	c.(1576-1578)ctC>ctA	p.L526L	PRKCH_ENST00000555082.1_Silent_p.L365L|RP11-47I22.4_ENST00000556347.1_Missense_Mutation_p.S31Y	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	526	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CACAGATCCTCCAGGAAATGC	0.483																																					Melanoma(135;863 1779 8064 14443 26348)	uc001xfn.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)|skin(1)	6						c.(1576-1578)CTC>CTA		protein kinase C, eta							180.0	168.0	172.0					14																	61997130		2203	4300	6503	SO:0001819	synonymous_variant	5583				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity	g.chr14:61997130C>A	M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.1578C>A	14.37:g.61997130C>A						PRKCH_uc010tsa.1_Silent_p.L365L|PRKCH_uc010tsb.1_Silent_p.L94L	p.L526L	NM_006255	NP_006246	P24723	KPCL_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)	12	1883	+			526			Protein kinase.		B4DJN5|Q16246|Q8NE03	Silent	SNP	ENST00000332981.5	37	c.1578C>A	CCDS9752.1	.	.	.	.	.	.	.	.	.	.	C	9.413	1.081122	0.20309	.	.	ENSG00000258989	ENST00000556347	.	.	.	5.63	0.113	0.14631	.	.	.	.	.	T	0.55049	0.1896	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47262	-0.9131	4	.	.	.	.	8.6823	0.34216	0.1008:0.2108:0.6125:0.076	.	.	.	.	Y	31	.	.	S	+	2	0	RP11-47I22.4	61066883	0.973000	0.33851	0.998000	0.56505	0.906000	0.53458	0.018000	0.13422	0.016000	0.14998	0.650000	0.86243	TCC		0.483	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2	NM_006255		30	138	1	0	3.99e-17	7.85e-17	30	138				
RGS6	9628	broad.mit.edu	37	14	72925015	72925015	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr14:72925015A>C	ENST00000553530.1	+	5	479	c.272A>C	c.(271-273)cAg>cCg	p.Q91P	RGS6_ENST00000554782.1_5'Flank|RGS6_ENST00000555571.1_Missense_Mutation_p.Q91P|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000406236.4_Missense_Mutation_p.Q91P|RGS6_ENST00000434263.2_Missense_Mutation_p.Q22P|RGS6_ENST00000355512.6_Missense_Mutation_p.Q91P|RGS6_ENST00000404301.2_Missense_Mutation_p.Q91P|RGS6_ENST00000402788.2_Missense_Mutation_p.Q91P|RGS6_ENST00000556437.1_Missense_Mutation_p.Q91P|RGS6_ENST00000407322.4_Missense_Mutation_p.Q91P|RGS6_ENST00000343854.6_Missense_Mutation_p.Q91P|RGS6_ENST00000553525.1_Missense_Mutation_p.Q91P	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	91	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		ATCGCTGCCCAGGGCTACATC	0.458																																					Ovarian(143;1926 2468 21071 48641)	uc001xna.3		NA																	0				upper_aerodigestive_tract(1)|lung(1)|skin(1)	3						c.(271-273)CAG>CCG		regulator of G-protein signalling 6							152.0	118.0	129.0					14																	72925015		2203	4300	6503	SO:0001583	missense	9628				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr14:72925015A>C	AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.272A>C	14.37:g.72925015A>C	ENSP00000452331:p.Gln91Pro					RGS6_uc010ttn.1_Missense_Mutation_p.Q91P|RGS6_uc001xmx.3_Missense_Mutation_p.Q91P|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.Q91P|RGS6_uc010ttp.1_Missense_Mutation_p.Q22P|RGS6_uc001xmz.1_5'Flank|RGS6_uc010arg.2_RNA	p.Q91P	NM_004296	NP_004287	P49758	RGS6_HUMAN		all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)	5	795	+			91			DEP.		C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Missense_Mutation	SNP	ENST00000553530.1	37	c.272A>C	CCDS9808.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.740100	0.89573	.	.	ENSG00000182732	ENST00000553525;ENST00000555571;ENST00000553530;ENST00000556437;ENST00000355512;ENST00000404301;ENST00000406236;ENST00000407322;ENST00000402788;ENST00000343854;ENST00000453330;ENST00000434263	T;T;T;T;T;T;T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83;1.83;1.83;1.83;1.83;1.83;1.83	6.02	6.02	0.97574	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.108661	0.64402	D	0.000004	T	0.43831	0.1265	L	0.47716	1.5	0.80722	D	1	D;D;P	0.64830	0.994;0.971;0.947	D;P;P	0.62955	0.909;0.794;0.625	T	0.30416	-0.9979	10	0.87932	D	0	-18.6259	16.5446	0.84426	1.0:0.0:0.0:0.0	.	22;96;91	B7Z7N5;Q59FJ8;P49758	.;.;RGS6_HUMAN	P	91;91;91;91;91;91;91;91;91;91;63;22	ENSP00000451030:Q91P;ENSP00000450936:Q91P;ENSP00000452331:Q91P;ENSP00000451855:Q91P;ENSP00000347699:Q91P;ENSP00000385243:Q91P;ENSP00000384218:Q91P;ENSP00000384612:Q91P;ENSP00000383953:Q91P;ENSP00000341199:Q91P;ENSP00000412144:Q22P	ENSP00000341199:Q91P	Q	+	2	0	RGS6	71994768	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.272000	0.95707	2.311000	0.77944	0.533000	0.62120	CAG		0.458	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2			26	53	0	0	0	0	26	53				
TECPR2	9895	broad.mit.edu	37	14	102931608	102931608	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr14:102931608G>C	ENST00000359520.7	+	17	3997	c.3771G>C	c.(3769-3771)atG>atC	p.M1257I	TECPR2_ENST00000558678.1_Missense_Mutation_p.M1257I	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1257					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CCTGGATAATGATTGAGCCAC	0.502																																						uc001ylw.1		NA																	0				lung(1)|central_nervous_system(1)|skin(1)	3						c.(3769-3771)ATG>ATC		tectonin beta-propeller repeat containing 2							107.0	93.0	98.0					14																	102931608		2203	4300	6503	SO:0001583	missense	9895						protein binding	g.chr14:102931608G>C	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.3771G>C	14.37:g.102931608G>C	ENSP00000352510:p.Met1257Ile					TECPR2_uc010awl.2_Missense_Mutation_p.M1257I|TECPR2_uc010txx.1_Missense_Mutation_p.M420I	p.M1257I	NM_014844	NP_055659	O15040	TCPR2_HUMAN			17	3919	+			1257			TECPR 4.		A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	c.3771G>C	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	G	8.821	0.937517	0.18206	.	.	ENSG00000196663	ENST00000359520	T	0.79554	-1.28	5.57	0.191	0.15130	.	1.129380	0.06218	N	0.686219	T	0.59662	0.2210	N	0.08118	0	0.21386	N	0.999701	B;B;B	0.28971	0.007;0.229;0.229	B;B;B	0.28553	0.02;0.084;0.091	T	0.48103	-0.9064	10	0.20046	T	0.44	.	4.932	0.13921	0.124:0.2177:0.5462:0.1121	.	440;1257;1257	B4DSD3;A5PKY3;O15040	.;.;TCPR2_HUMAN	I	1257	ENSP00000352510:M1257I	ENSP00000352510:M1257I	M	+	3	0	TECPR2	102001361	0.037000	0.19845	0.006000	0.13384	0.986000	0.74619	0.225000	0.17757	0.062000	0.16340	0.655000	0.94253	ATG		0.502	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		13	45	0	0	0	0	13	45				
RYR3	6263	broad.mit.edu	37	15	33955093	33955093	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr15:33955093G>T	ENST00000389232.4	+	35	5432	c.5362G>T	c.(5362-5364)Gag>Tag	p.E1788*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.E1788*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1788	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGCCGGCAAGGAGGCTCCTGT	0.562																																						uc001zhi.2		NA																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(5362-5364)GAG>TAG		ryanodine receptor 3							181.0	192.0	188.0					15																	33955093		2039	4203	6242	SO:0001587	stop_gained	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33955093G>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5362G>T	15.37:g.33955093G>T	ENSP00000373884:p.Glu1788*					RYR3_uc010bar.2_Nonsense_Mutation_p.E1788*	p.E1788*	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	35	5432	+		all_lung(180;7.18e-09)	1788			4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Nonsense_Mutation	SNP	ENST00000389232.4	37	c.5362G>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	44	10.698276	0.99452	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.11	3.23	0.37069	.	0.277361	0.33327	N	0.005039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	8.4913	0.33102	0.152:0.1324:0.7156:0.0	.	.	.	.	X	1788	.	ENSP00000354735:E1788X	E	+	1	0	RYR3	31742385	1.000000	0.71417	0.998000	0.56505	0.342000	0.28953	4.246000	0.58740	1.529000	0.49120	0.655000	0.94253	GAG		0.562	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			29	179	1	0	1.31e-18	2.59e-18	29	179				
HERC1	8925	broad.mit.edu	37	15	63904544	63904544	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr15:63904544C>T	ENST00000443617.2	-	77	14393	c.14306G>A	c.(14305-14307)cGg>cAg	p.R4769Q		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4769	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GAAAAGCACCCGCTCCTCATT	0.493																																						uc002amp.2		NA																	0				ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(14305-14307)CGG>CAG		hect domain and RCC1-like domain 1							95.0	94.0	94.0					15																	63904544		2070	4212	6282	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63904544C>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.14306G>A	15.37:g.63904544C>T	ENSP00000390158:p.Arg4769Gln					HERC1_uc002amo.2_5'Flank	p.R4769Q	NM_003922	NP_003913	Q15751	HERC1_HUMAN			77	14454	-			4769			HECT.		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.14306G>A	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	36	5.811710	0.96975	.	.	ENSG00000103657	ENST00000443617	D	0.84516	-1.86	5.7	5.7	0.88788	HECT (4);	0.000000	0.85682	D	0.000000	D	0.90823	0.7118	L	0.50993	1.605	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	D	0.90788	0.4684	10	0.62326	D	0.03	.	19.8336	0.96646	0.0:1.0:0.0:0.0	.	4769	Q15751	HERC1_HUMAN	Q	4769	ENSP00000390158:R4769Q	ENSP00000390158:R4769Q	R	-	2	0	HERC1	61691597	1.000000	0.71417	0.980000	0.43619	0.986000	0.74619	7.818000	0.86416	2.685000	0.91497	0.555000	0.69702	CGG		0.493	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		6	44	0	0	0	0	6	44				
ISL2	64843	broad.mit.edu	37	15	76629267	76629267	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr15:76629267G>A	ENST00000290759.4	+	1	203	c.43G>A	c.(43-45)Ggt>Agt	p.G15S	RP11-685G9.2_ENST00000559539.1_RNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	15					negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|peripheral nervous system neuron development (GO:0048935)|regulation of transcription, DNA-templated (GO:0006355)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord motor neuron cell fate specification (GO:0021520)|visceral motor neuron differentiation (GO:0021524)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						GGGTGCTATGGGTGATCATTC	0.443																																					GBM(97;953 1391 16164 31496 36951)	uc002bbw.1		NA																	0					0						c.(43-45)GGT>AGT		ISL LIM homeobox 2							281.0	303.0	296.0					15																	76629267		2197	4294	6491	SO:0001583	missense	64843					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:76629267G>A	AK001022	CCDS10290.1	15q24.3	2012-03-09	2007-07-13		ENSG00000159556	ENSG00000159556		"""Homeoboxes / LIM class"""	18524	protein-coding gene	gene with protein product		609481	"""ISL2 transcription factor, LIM/homeodomain, (islet-2)"""				Standard	NM_145805		Approved	FLJ10160	uc002bbw.1	Q96A47	OTTHUMG00000143723	ENST00000290759.4:c.43G>A	15.37:g.76629267G>A	ENSP00000290759:p.Gly15Ser						p.G15S	NM_145805	NP_665804	Q96A47	ISL2_HUMAN			1	121	+			15					B3KM37	Missense_Mutation	SNP	ENST00000290759.4	37	c.43G>A	CCDS10290.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046609	0.75846	.	.	ENSG00000159556	ENST00000290759	D	0.84800	-1.9	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.82783	0.5112	L	0.48877	1.53	0.80722	D	1	P	0.36162	0.54	B	0.39771	0.309	T	0.81304	-0.0993	10	0.31617	T	0.26	.	16.0455	0.80717	0.0:0.0:1.0:0.0	.	15	Q96A47	ISL2_HUMAN	S	15	ENSP00000290759:G15S	ENSP00000290759:G15S	G	+	1	0	ISL2	74416322	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.355000	0.90083	2.366000	0.80165	0.561000	0.74099	GGT		0.443	ISL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289779.1			52	330	0	0	0	0	52	330				
SRRM2	23524	broad.mit.edu	37	16	2817671	2817671	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr16:2817671C>G	ENST00000301740.8	+	11	7691	c.7142C>G	c.(7141-7143)aCc>aGc	p.T2381S	SRRM2_ENST00000574593.1_3'UTR|AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2381	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCAAACCTCACCAGCCCCAGG	0.632																																						uc002crk.2		NA																	0				ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(7141-7143)ACC>AGC		splicing coactivator subunit SRm300							72.0	72.0	72.0					16																	2817671		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2817671C>G	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.7142C>G	16.37:g.2817671C>G	ENSP00000301740:p.Thr2381Ser					SRRM2_uc002crj.1_Missense_Mutation_p.T2285S|SRRM2_uc002crl.1_Missense_Mutation_p.T2381S|SRRM2_uc010bsu.1_Missense_Mutation_p.T2285S	p.T2381S	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	7691	+			2381			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.7142C>G	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.310850	0.40895	.	.	ENSG00000167978	ENST00000301740;ENST00000544933	T	0.79845	-1.31	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000003	D	0.82614	0.5075	N	0.24115	0.695	0.33159	D	0.546748	D	0.63880	0.993	D	0.68192	0.956	D	0.85982	0.1483	10	0.51188	T	0.08	-15.1094	15.4828	0.75542	0.0:1.0:0.0:0.0	.	2381	Q9UQ35	SRRM2_HUMAN	S	2381;1633	ENSP00000301740:T2381S	ENSP00000301740:T2381S	T	+	2	0	SRRM2	2757672	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.279000	0.43435	2.728000	0.93425	0.655000	0.94253	ACC		0.632	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			34	87	0	0	0	0	34	87				
KNOP1	400506	broad.mit.edu	37	16	19718478	19718478	+	Silent	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr16:19718478G>C	ENST00000219837.7	-	5	1209	c.1131C>G	c.(1129-1131)ctC>ctG	p.L377L	AC002550.5_ENST00000565916.1_RNA|KNOP1_ENST00000568230.1_Silent_p.L56L	NM_001012991.2	NP_001013009.2	Q1ED39	KNOP1_HUMAN	lysine-rich nucleolar protein 1	377	Interaction with ZNF106. {ECO:0000250}.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										CCATAAGTCTGAGAAATTTCA	0.532																																						uc002dgq.2		NA																	0					0						c.(1129-1131)CTC>CTG		hypothetical protein LOC400506							44.0	47.0	46.0					16																	19718478		1895	4124	6019	SO:0001819	synonymous_variant	400506					nucleolus		g.chr16:19718478G>C	BC047010	CCDS42127.1	16p12.3	2013-03-12	2013-03-12	2013-03-12	ENSG00000103550	ENSG00000103550			34404	protein-coding gene	gene with protein product	"""family with sequence similarity 191, member A"", ""testis-specific gene 118"""		"""chromosome 16 open reading frame 88"""	C16orf88			Standard	NM_001012991		Approved	101F10.1, FAM191A, TSG118	uc002dgq.3	Q1ED39		ENST00000219837.7:c.1131C>G	16.37:g.19718478G>C							p.L377L	NM_001012991	NP_001013009	Q1ED39	CP088_HUMAN			5	1146	-			377			Interaction with ZFP106 (By similarity).		O43328|Q5FWF3	Silent	SNP	ENST00000219837.7	37	c.1131C>G	CCDS42127.1																																																																																				0.532	KNOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435993.2	NM_001012991		25	61	0	0	0	0	25	61				
XPO6	23214	broad.mit.edu	37	16	28167615	28167615	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr16:28167615T>C	ENST00000304658.5	-	7	1377	c.877A>G	c.(877-879)Aac>Gac	p.N293D	XPO6_ENST00000565698.1_Missense_Mutation_p.N279D|XPO6_ENST00000561488.1_5'UTR	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	293					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CTGCTGCCGTTAACTGACGCC	0.577																																						uc002dpa.1		NA																	0				ovary(1)|skin(1)	2						c.(877-879)AAC>GAC		exportin 6							62.0	68.0	66.0					16																	28167615		2002	4148	6150	SO:0001583	missense	23214				protein export from nucleus		protein binding|protein transporter activity	g.chr16:28167615T>C	AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.877A>G	16.37:g.28167615T>C	ENSP00000302790:p.Asn293Asp					XPO6_uc002dpb.1_Missense_Mutation_p.N279D|XPO6_uc010vcp.1_Missense_Mutation_p.N293D	p.N293D	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN			7	1378	-			293					A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	37	c.877A>G	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	T	13.02	2.113682	0.37339	.	.	ENSG00000169180	ENST00000304658	T	0.47177	0.85	5.87	5.87	0.94306	Armadillo-type fold (1);	0.039899	0.85682	D	0.000000	T	0.27384	0.0672	N	0.08118	0	0.48511	D	0.999668	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15723	-1.0427	10	0.11794	T	0.64	-21.9664	14.5226	0.67863	0.0:0.0:0.0:1.0	.	293;293	B7ZM10;Q96QU8	.;XPO6_HUMAN	D	293	ENSP00000302790:N293D	ENSP00000302790:N293D	N	-	1	0	XPO6	28075116	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.409000	0.80053	2.371000	0.80710	0.533000	0.62120	AAC		0.577	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		29	67	0	0	0	0	29	67				
APOBR	55911	broad.mit.edu	37	16	28508717	28508717	+	Silent	SNP	G	G	C	rs567863520		TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr16:28508717G>C	ENST00000431282.1	+	3	2338	c.2328G>C	c.(2326-2328)gtG>gtC	p.V776V	APOBR_ENST00000564831.1_Silent_p.V785V|APOBR_ENST00000328423.5_Silent_p.V776V|CLN3_ENST00000569430.1_5'Flank|CLN3_ENST00000567160.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	776	Glu-rich.			V -> A (in Ref. 1; AAF76255/AAF76256, 3; AAI19787/AAI19789 and 4; AK075085). {ECO:0000305}.	cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						TGGAAGGGGTGCTTGGGCAAG	0.587																																						uc002dqb.1		NA																	0					0						c.(2326-2328)GTG>GTC		apolipoprotein B48 receptor																																				SO:0001819	synonymous_variant	55911				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		g.chr16:28508717G>C	AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.2328G>C	16.37:g.28508717G>C						uc010vct.1_Intron|APOB48R_uc010byg.1_Silent_p.V314V	p.V776V	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN			3	2338	+			776			Glu-rich.		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Silent	SNP	ENST00000431282.1	37	c.2328G>C																																																																																					0.587	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804		11	24	0	0	0	0	11	24				
SIAH1	6477	broad.mit.edu	37	16	48395697	48395697	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr16:48395697G>A	ENST00000380006.2	-	1	2096	c.643C>T	c.(643-645)Cgc>Tgc	p.R215C	SIAH1_ENST00000356721.3_Missense_Mutation_p.R246C|LONP2_ENST00000564259.1_3'UTR|SIAH1_ENST00000394725.2_Missense_Mutation_p.R215C			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	215	SBD.				anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell cycle (GO:0007049)|nervous system development (GO:0007399)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein catabolic process (GO:0030163)|protein destabilization (GO:0031648)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				GCTTGCTTGCGTGTTCCTATC	0.443																																						uc002efo.1		NA																	0				ovary(1)	1						c.(643-645)CGC>TGC		seven in absentia homolog 1 isoform a							155.0	133.0	141.0					16																	48395697		2200	4300	6500	SO:0001583	missense	6477				axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:48395697G>A	U76247	CCDS10735.1, CCDS32444.1	16q12.1	2013-06-03	2012-02-23		ENSG00000196470	ENSG00000196470			10857	protein-coding gene	gene with protein product		602212	"""seven in absentia homolog 1 (Drosophila)"""			9403064, 9334332	Standard	NM_001006610		Approved	hSIAH1	uc002efo.1	Q8IUQ4	OTTHUMG00000175417	ENST00000380006.2:c.643C>T	16.37:g.48395697G>A	ENSP00000369343:p.Arg215Cys					uc002efk.1_RNA|SIAH1_uc002efl.2_RNA|SIAH1_uc002efn.1_Missense_Mutation_p.R246C	p.R215C	NM_003031	NP_003022	Q8IUQ4	SIAH1_HUMAN			2	760	-		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)	215	TR->AA: In mutant D; does not impair its ability to interact with CACYBP and degrade CTNNB1 and PML; when associated with A-124; A-231 and A-232.		SBD.		A0FKF3|O43269|Q49A58|Q92880	Missense_Mutation	SNP	ENST00000380006.2	37	c.643C>T	CCDS10735.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.853375	0.51270	.	.	ENSG00000196470	ENST00000356721;ENST00000394725;ENST00000380006	T;T;T	0.27402	1.67;1.67;1.68	5.2	5.2	0.72013	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.000000	0.85682	U	0.000000	T	0.33673	0.0871	M	0.66939	2.045	0.80722	D	1	B;P	0.35401	0.129;0.499	B;B	0.25405	0.06;0.058	T	0.34527	-0.9825	10	0.72032	D	0.01	-27.9786	19.0874	0.93209	0.0:0.0:1.0:0.0	.	215;246	Q8IUQ4;Q8IUQ4-2	SIAH1_HUMAN;.	C	246;215;231	ENSP00000349156:R246C;ENSP00000378214:R215C;ENSP00000369343:R231C	ENSP00000349156:R246C	R	-	1	0	SIAH1	46953198	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.819000	0.86621	2.590000	0.87494	0.655000	0.94253	CGC		0.443	SIAH1-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256842.12			14	66	0	0	0	0	14	66				
CX3CL1	6376	broad.mit.edu	37	16	57416529	57416529	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr16:57416529T>A	ENST00000006053.6	+	3	890	c.779T>A	c.(778-780)cTg>cAg	p.L260Q	CX3CL1_ENST00000565912.1_Missense_Mutation_p.L222Q|CX3CL1_ENST00000563383.1_Missense_Mutation_p.L266Q	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	260	Mucin-like stalk.				angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GAGAACTCTCTGGAGCGGGAG	0.667																																						uc002eli.2		NA																	0					0						c.(778-780)CTG>CAG		chemokine (C-X3-C motif) ligand 1 precursor							35.0	40.0	38.0					16																	57416529		2198	4300	6498	SO:0001583	missense	6376				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity	g.chr16:57416529T>A	U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"""Endogenous ligands"""	10647	protein-coding gene	gene with protein product		601880	"""small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"""	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.779T>A	16.37:g.57416529T>A	ENSP00000006053:p.Leu260Gln						p.L260Q	NM_002996	NP_002987	P78423	X3CL1_HUMAN			3	846	+			260			Mucin-like stalk.|Extracellular (Potential).		O00672	Missense_Mutation	SNP	ENST00000006053.6	37	c.779T>A	CCDS10779.1	.	.	.	.	.	.	.	.	.	.	T	12.01	1.808518	0.31961	.	.	ENSG00000006210	ENST00000006053	T	0.05925	3.37	5.1	-3.15	0.05233	.	.	.	.	.	T	0.04543	0.0124	L	0.29908	0.895	0.09310	N	1	B	0.20887	0.049	B	0.15870	0.014	T	0.39375	-0.9617	9	0.87932	D	0	-14.9075	5.9475	0.19227	0.1641:0.5056:0.0:0.3303	.	260	P78423	X3CL1_HUMAN	Q	260	ENSP00000006053:L260Q	ENSP00000006053:L260Q	L	+	2	0	CX3CL1	55974030	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	-0.014000	0.12656	-0.661000	0.05345	0.456000	0.33151	CTG		0.667	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257345.3	NM_002996		22	44	0	0	0	0	22	44				
COG4	25839	broad.mit.edu	37	16	70551611	70551611	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr16:70551611T>C	ENST00000323786.5	-	3	308	c.287A>G	c.(286-288)aAg>aGg	p.K96R	COG4_ENST00000393612.4_Missense_Mutation_p.K92R|COG4_ENST00000564653.1_Missense_Mutation_p.K96R	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	92	Interacts with STX5.				Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				AGCCAGCTGCTTTGCATCTCC	0.443																																						uc002ezc.2		NA																	0					0						c.(286-288)AAG>AGG		component of oligomeric golgi complex 4							129.0	113.0	118.0					16																	70551611		2198	4300	6498	SO:0001583	missense	25839				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:70551611T>C	AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"""Components of oligomeric golgi complex"""	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.287A>G	16.37:g.70551611T>C	ENSP00000315775:p.Lys96Arg					COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.K96R|COG4_uc002eze.2_5'UTR	p.K96R	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN			3	298	-		Ovarian(137;0.0694)	92			Interacts with STX5.		B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Missense_Mutation	SNP	ENST00000323786.5	37	c.287A>G	CCDS10892.2	.	.	.	.	.	.	.	.	.	.	t	14.32	2.500184	0.44455	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000393612;ENST00000534772	T;T;T	0.42900	0.96;0.96;0.96	5.31	5.31	0.75309	.	0.277683	0.43260	D	0.000588	T	0.25680	0.0625	N	0.08118	0	0.25811	N	0.984395	B;B	0.15473	0.013;0.006	B;B	0.12837	0.008;0.008	T	0.12682	-1.0538	10	0.32370	T	0.25	-23.3977	15.3234	0.74141	0.0:0.0:0.0:1.0	.	91;92	Q6PIW8;Q9H9E3	.;COG4_HUMAN	R	96;92;92;19	ENSP00000315775:K96R;ENSP00000377236:K92R;ENSP00000461912:K19R	ENSP00000315775:K96R	K	-	2	0	COG4	69109112	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	2.058000	0.41374	2.020000	0.59435	0.370000	0.22315	AAG		0.443	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250326.3			32	62	0	0	0	0	32	62				
FBXO31	79791	broad.mit.edu	37	16	87365007	87365007	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr16:87365007G>C	ENST00000311635.7	-	9	1519	c.1507C>G	c.(1507-1509)Ctg>Gtg	p.L503V	RP11-178L8.4_ENST00000568879.1_Intron	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	503					cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		AAGGATTTCAGCTCCAGCCAG	0.622																																						uc002fjw.2		NA																	0				lung(1)	1						c.(1507-1509)CTG>GTG		F-box protein 31							56.0	49.0	52.0					16																	87365007		2198	4300	6498	SO:0001583	missense	79791				cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding	g.chr16:87365007G>C	BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"""F-boxes /  ""other"""""	16510	protein-coding gene	gene with protein product		609102	"""F-box only protein 31"""				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.1507C>G	16.37:g.87365007G>C	ENSP00000310841:p.Leu503Val					FBXO31_uc010vot.1_Missense_Mutation_p.L331V|FBXO31_uc002fjv.2_Missense_Mutation_p.L395V	p.L503V	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	9	1551	-			503					Q5K680|Q8WYV1|Q96D73|Q9UFV4	Missense_Mutation	SNP	ENST00000311635.7	37	c.1507C>G	CCDS32501.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.624514	0.46840	.	.	ENSG00000103264	ENST00000311635	.	.	.	4.86	2.87	0.33458	.	0.000000	0.64402	D	0.000001	T	0.68833	0.3044	L	0.61387	1.9	0.54753	D	0.999988	D;D	0.76494	0.998;0.999	D;D	0.85130	0.994;0.997	T	0.66228	-0.5976	9	0.48119	T	0.1	-16.14	8.8151	0.34991	0.2348:0.0:0.7652:0.0	.	503;395	Q5XUX0;Q5XUX0-2	FBX31_HUMAN;.	V	503	.	ENSP00000310841:L503V	L	-	1	2	FBXO31	85922508	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.226000	0.58606	0.563000	0.29222	0.561000	0.74099	CTG		0.622	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430799.2	NM_024735		13	24	0	0	0	0	13	24				
ATP1B2	482	broad.mit.edu	37	17	7557506	7557506	+	Silent	SNP	C	C	T	rs201606347		TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr17:7557506C>T	ENST00000250111.4	+	4	890	c.483C>T	c.(481-483)tcC>tcT	p.S161S		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	161					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein stabilization (GO:0050821)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.0?(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		GCAACTGCTCCGGCATTGGGG	0.562													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19107	0.0		0.0	False		,,,				2504	0.0					uc002gif.1		NA																	3	Whole gene deletion(2)|Unknown(1)	p.0?(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|bone(1)	central_nervous_system(1)|pancreas(1)	2						c.(481-483)TCC>TCT		Na+/K+ -ATPase beta 2 subunit		C		0,4406		0,0,2203	153.0	154.0	154.0		483	-3.2	1.0	17		154	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ATP1B2	NM_001678.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		161/291	7557506	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	482				ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	g.chr17:7557506C>T	U45945	CCDS32550.1	17p13.1	2012-10-22			ENSG00000129244	ENSG00000129244	3.6.3.9	"""ATPases / P-type"""	805	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-2"", ""sodium pump subunit beta-2"", ""sodium-potassium ATPase subunit beta 2 (non-catalytic)"""	182331				1699290	Standard	NM_001678		Approved	AMOG	uc002gif.1	P14415		ENST00000250111.4:c.483C>T	17.37:g.7557506C>T							p.S161S	NM_001678	NP_001669	P14415	AT1B2_HUMAN		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)	4	1066	+		all_cancers(10;0.000178)|Prostate(122;0.081)	161			Extracellular (Potential).		A0AV17|A8K278|D3DTQ2|O60444	Silent	SNP	ENST00000250111.4	37	c.483C>T	CCDS32550.1																																																																																				0.562	ATP1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440234.1	NM_001678		149	122	0	0	0	0	149	122				
TNFRSF13B	23495	broad.mit.edu	37	17	16875383	16875383	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr17:16875383C>A	ENST00000261652.2	-	1	19	c.7G>T	c.(7-9)Ggc>Tgc	p.G3C	TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.G3C|TNFRSF13B_ENST00000437538.2_Missense_Mutation_p.G3C|TNFRSF13B_ENST00000581616.2_5'UTR|TNFRSF13B_ENST00000579315.1_Missense_Mutation_p.G3C	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	3					B cell homeostasis (GO:0001782)|cell surface receptor signaling pathway (GO:0007166)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of B cell proliferation (GO:0030889)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						CGGCCCAGGCCACTCATTACT	0.582									IgA Deficiency, Selective																													uc002gqs.1		NA																	0				kidney(2)	2						c.(7-9)GGC>TGC		tumor necrosis factor receptor 13B							68.0	59.0	62.0					17																	16875383		2203	4300	6503	SO:0001583	missense	23495	IgA_Deficiency_Selective	Familial Cancer Database	IGAD1, IGAD2	cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr17:16875383C>A	AF023614	CCDS11181.1	17p11.2	2014-09-17			ENSG00000240505	ENSG00000240505		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	18153	protein-coding gene	gene with protein product		604907				9311921	Standard	NM_012452		Approved	TACI, CD267	uc002gqs.1	O14836	OTTHUMG00000059262	ENST00000261652.2:c.7G>T	17.37:g.16875383C>A	ENSP00000261652:p.Gly3Cys					TNFRSF13B_uc010vwt.1_RNA|TNFRSF13B_uc002gqt.1_Missense_Mutation_p.G3C|TNFRSF13B_uc010vwu.1_Missense_Mutation_p.G3C	p.G3C	NM_012452	NP_036584	O14836	TR13B_HUMAN			1	20	-			3			Extracellular (Potential).		B2R8B0|B7Z6V8|Q32LX4|Q7Z6F5	Missense_Mutation	SNP	ENST00000261652.2	37	c.7G>T	CCDS11181.1	.	.	.	.	.	.	.	.	.	.	C	3.520	-0.098050	0.07010	.	.	ENSG00000240505	ENST00000437538;ENST00000261652	D;D	0.95656	-3.77;-3.33	2.84	1.79	0.24919	.	.	.	.	.	D	0.92750	0.7695	N	0.08118	0	0.24406	N	0.994687	D;D;D	0.76494	0.998;0.999;0.998	P;D;P	0.64237	0.907;0.923;0.84	D	0.85305	0.1075	9	0.87932	D	0	-4.0695	7.4872	0.27441	0.0:0.7304:0.2696:0.0	.	3;3;3	B7Z6V8;O14836-2;O14836	.;.;TR13B_HUMAN	C	3	ENSP00000413453:G3C;ENSP00000261652:G3C	ENSP00000261652:G3C	G	-	1	0	TNFRSF13B	16816108	0.825000	0.29262	0.736000	0.30914	0.392000	0.30506	0.623000	0.24447	0.485000	0.27652	0.491000	0.48974	GGC		0.582	TNFRSF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131474.2			13	43	1	0	9.31e-06	1.7e-05	13	43				
NFE2L1	4779	broad.mit.edu	37	17	46128746	46128746	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr17:46128746C>A	ENST00000362042.3	+	2	882	c.266C>A	c.(265-267)gCc>gAc	p.A89D	NFE2L1_ENST00000357480.5_Missense_Mutation_p.A89D|NFE2L1_ENST00000585291.1_Missense_Mutation_p.A89D|NFE2L1_ENST00000361665.3_Missense_Mutation_p.A89D	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	89					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGGTGAGGGCCCTGGACAGG	0.582																																						uc002imz.3		NA																	0				skin(1)	1						c.(265-267)GCC>GAC		nuclear factor erythroid 2-like 1							68.0	72.0	71.0					17																	46128746		2203	4300	6503	SO:0001583	missense	4779				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr17:46128746C>A	AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.266C>A	17.37:g.46128746C>A	ENSP00000354855:p.Ala89Asp					NFE2L1_uc002ina.3_Missense_Mutation_p.A89D|NFE2L1_uc002inb.3_Missense_Mutation_p.A89D|NFE2L1_uc002inc.1_Missense_Mutation_p.A89D	p.A89D	NM_003204	NP_003195	Q14494	NF2L1_HUMAN			2	917	+			89					D3DTU3|D3DTU5|Q12877|Q96FN6	Missense_Mutation	SNP	ENST00000362042.3	37	c.266C>A	CCDS11524.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.850773	0.32699	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480	T;T	0.45668	0.89;0.89	5.3	5.3	0.74995	.	0.175756	0.50627	D	0.000118	T	0.62624	0.2443	L	0.60455	1.87	0.80722	D	1	D;P;P	0.89917	1.0;0.884;0.893	D;P;P	0.83275	0.996;0.586;0.587	T	0.64782	-0.6326	10	0.72032	D	0.01	-19.9421	17.7252	0.88363	0.0:1.0:0.0:0.0	.	89;89;89	A3KMG6;Q14494-2;Q14494	.;.;NF2L1_HUMAN	D	108;89;89	ENSP00000355190:A89D;ENSP00000350072:A89D	ENSP00000350072:A89D	A	+	2	0	NFE2L1	43483745	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.068000	0.71201	2.495000	0.84180	0.563000	0.77884	GCC		0.582	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	NM_003204		25	94	1	0	3.08e-08	5.83e-08	25	94				
BAHCC1	57597	broad.mit.edu	37	17	79410355	79410355	+	Silent	SNP	C	C	T	rs377055909		TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr17:79410355C>T	ENST00000307745.7	+	9	1980	c.1980C>T	c.(1978-1980)gcC>gcT	p.A660A																								GCCTCAAGGCCAGCTGCATCC	0.642													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17243	0.0		0.0	False		,,,				2504	0.0					uc002kaf.2		NA																	0				ovary(1)	1						c.(1978-1980)GCC>GCT		BAH domain and coiled-coil containing 1		C		3,3975		0,3,1986	17.0	20.0	19.0		1809	3.0	1.0	17		19	0,8256		0,0,4128	no	coding-synonymous	BAHCC1	NM_001080519.2		0,3,6114	TT,TC,CC		0.0,0.0754,0.0245		603/2552	79410355	3,12231	1989	4128	6117	SO:0001819	synonymous_variant	57597						DNA binding	g.chr17:79410355C>T																												ENST00000307745.7:c.1980C>T	17.37:g.79410355C>T						BAHCC1_uc002kae.2_5'Flank	p.A660A	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)		3	1980	+	all_neural(118;0.0804)|Melanoma(429;0.242)		660						Silent	SNP	ENST00000307745.7	37	c.1980C>T																																																																																					0.642	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				6	14	0	0	0	0	6	14				
CDH7	1005	broad.mit.edu	37	18	63547834	63547834	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr18:63547834C>T	ENST00000397968.2	+	12	2488	c.2062C>T	c.(2062-2064)Cca>Tca	p.P688S	CDH7_ENST00000323011.3_Missense_Mutation_p.P688S	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	688					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GGATGTGACTCCAGAAATTCA	0.478																																						uc002ljz.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(2062-2064)CCA>TCA		cadherin 7, type 2 preproprotein							81.0	86.0	84.0					18																	63547834		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63547834C>T	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.2062C>T	18.37:g.63547834C>T	ENSP00000381058:p.Pro688Ser					CDH7_uc002lkb.2_Missense_Mutation_p.P688S	p.P688S	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			12	2387	+		Esophageal squamous(42;0.129)	688			Cytoplasmic (Potential).		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.2062C>T	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774038	0.69992	.	.	ENSG00000081138	ENST00000323011;ENST00000397966;ENST00000397968	D;D	0.84800	-1.9;-1.9	5.37	5.37	0.77165	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.92528	0.7627	M	0.78344	2.41	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92228	0.5790	10	0.48119	T	0.1	.	19.1123	0.93321	0.0:1.0:0.0:0.0	.	688	Q9ULB5	CADH7_HUMAN	S	688	ENSP00000319166:P688S;ENSP00000381058:P688S	ENSP00000319166:P688S	P	+	1	0	CDH7	61698814	1.000000	0.71417	0.949000	0.38748	0.812000	0.45895	7.487000	0.81328	2.515000	0.84797	0.655000	0.94253	CCA		0.478	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		13	42	0	0	0	0	13	42				
DSEL	92126	broad.mit.edu	37	18	65180979	65180979	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr18:65180979C>G	ENST00000310045.7	-	2	2370	c.897G>C	c.(895-897)caG>caC	p.Q299H	CTD-2541J13.2_ENST00000581951.1_RNA|RP11-638L3.1_ENST00000583687.1_lincRNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	289					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GAAAAACATACTGTGTGACGG	0.388																																						uc002lke.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6						c.(895-897)CAG>CAC		dermatan sulfate epimerase-like							81.0	84.0	83.0					18																	65180979		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65180979C>G	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.897G>C	18.37:g.65180979C>G	ENSP00000310565:p.Gln299His						p.Q299H	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN			2	2121	-		Esophageal squamous(42;0.129)	289					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.897G>C	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857995	0.51376	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.27720	1.65	4.75	1.94	0.25998	.	0.000000	0.85682	U	0.000000	T	0.51924	0.1703	M	0.78049	2.395	0.44771	D	0.997776	D	0.76494	0.999	D	0.80764	0.994	T	0.50285	-0.8846	10	0.62326	D	0.03	.	10.1254	0.42646	0.0:0.7769:0.0:0.2231	.	289	Q8IZU8	DSEL_HUMAN	H	299;289	ENSP00000310565:Q299H	ENSP00000310565:Q299H	Q	-	3	2	DSEL	63331959	0.993000	0.37304	0.998000	0.56505	0.985000	0.73830	0.426000	0.21363	0.173000	0.19788	0.561000	0.74099	CAG		0.388	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		14	69	0	0	0	0	14	69				
FBN3	84467	broad.mit.edu	37	19	8131097	8131097	+	Silent	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:8131097C>T	ENST00000600128.1	-	64	8550	c.8136G>A	c.(8134-8136)ctG>ctA	p.L2712L	FBN3_ENST00000601739.1_Silent_p.L2712L|FBN3_ENST00000270509.2_Silent_p.L2712L			Q75N90	FBN3_HUMAN	fibrillin 3	2712						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GTGAGAGGTTCAGGCCCAAGG	0.662																																						uc002mjf.2		NA																	0				ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(8134-8136)CTG>CTA		fibrillin 3 precursor							15.0	15.0	15.0					19																	8131097		2196	4296	6492	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8131097C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.8136G>A	19.37:g.8131097C>T						FBN3_uc002mje.2_Silent_p.L508L	p.L2712L	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			63	8157	-			2712					Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.8136G>A	CCDS12196.1																																																																																				0.662	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		8	15	0	0	0	0	8	15				
FBN3	84467	broad.mit.edu	37	19	8188397	8188397	+	Silent	SNP	G	G	A	rs145240162	byFrequency	TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:8188397G>A	ENST00000600128.1	-	24	3447	c.3033C>T	c.(3031-3033)tgC>tgT	p.C1011C	FBN3_ENST00000601739.1_Silent_p.C1011C|FBN3_ENST00000270509.2_Silent_p.C1011C			Q75N90	FBN3_HUMAN	fibrillin 3	1011	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCGCACAGGCGCAGTGGAAGC	0.597													G|||	6	0.00119808	0.0015	0.0	5008	,	,		17221	0.004		0.0	False		,,,				2504	0.0					uc002mjf.2		NA																	0				ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(3031-3033)TGC>TGT		fibrillin 3 precursor		G		5,4401	9.9+/-24.2	0,5,2198	61.0	60.0	60.0		3033	-0.3	0.5	19	dbSNP_134	60	0,8600		0,0,4300	no	coding-synonymous	FBN3	NM_032447.3		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		1011/2810	8188397	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8188397G>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.3033C>T	19.37:g.8188397G>A							p.C1011C	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			23	3054	-			1011			EGF-like 12; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.3033C>T	CCDS12196.1																																																																																				0.597	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		16	26	0	0	0	0	16	26				
OR2Z1	284383	broad.mit.edu	37	19	8842012	8842012	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:8842012A>C	ENST00000324060.2	+	1	697	c.622A>C	c.(622-624)Atg>Ctg	p.M208L		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTGATCCTAATGCTCCCTCT	0.582																																						uc010xkg.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(622-624)ATG>CTG		olfactory receptor, family 2, subfamily Z,							128.0	109.0	115.0					19																	8842012		2203	4300	6503	SO:0001583	missense	284383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:8842012A>C	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.622A>C	19.37:g.8842012A>C	ENSP00000316284:p.Met208Leu						p.M208L	NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN			1	622	+			208			Helical; Name=5; (Potential).		B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	ENST00000324060.2	37	c.622A>C	CCDS32895.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.200178	0.00296	.	.	ENSG00000181733	ENST00000324060	T	0.30714	1.52	4.67	-9.34	0.00636	GPCR, rhodopsin-like superfamily (1);	1.875260	0.02728	N	0.114746	T	0.06280	0.0162	N	0.00991	-1.07	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25502	-1.0130	10	0.02654	T	1	.	2.927	0.05787	0.3833:0.3601:0.1547:0.1018	.	208	Q8NG97	OR2Z1_HUMAN	L	208	ENSP00000316284:M208L	ENSP00000316284:M208L	M	+	1	0	OR2Z1	8703012	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.832000	0.00743	-1.182000	0.02727	-0.451000	0.05528	ATG		0.582	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1			34	51	0	0	0	0	34	51				
MUC16	94025	broad.mit.edu	37	19	9049680	9049680	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:9049680C>G	ENST00000397910.4	-	5	32154	c.31951G>C	c.(31951-31953)Gca>Cca	p.A10651P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10653	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.A6284S(1)|p.A10651S(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGGTCAGTGCATCTAGTTCA	0.473																																						uc002mkp.2		NA																	2	Substitution - Missense(2)		large_intestine(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(31951-31953)GCA>CCA		mucin 16							137.0	122.0	127.0					19																	9049680		2015	4178	6193	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9049680C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.31951G>C	19.37:g.9049680C>G	ENSP00000381008:p.Ala10651Pro						p.A10651P	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			5	32155	-			10653			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.31951G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	5.399	0.258753	0.10239	.	.	ENSG00000181143	ENST00000397910	T	0.02863	4.13	2.33	-4.67	0.03319	.	.	.	.	.	T	0.03011	0.0089	N	0.22421	0.69	.	.	.	P	0.46020	0.871	P	0.46850	0.529	T	0.17684	-1.0361	8	0.87932	D	0	.	9.4227	0.38561	0.0:0.2699:0.0:0.7301	.	10651	B5ME49	.	P	10651	ENSP00000381008:A10651P	ENSP00000381008:A10651P	A	-	1	0	MUC16	8910680	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-7.255000	0.00040	-1.583000	0.01638	0.298000	0.19748	GCA		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		14	63	0	0	0	0	14	63				
SLC44A2	57153	broad.mit.edu	37	19	10753954	10753954	+	Splice_Site	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:10753954G>A	ENST00000335757.5	+	22	2390		c.e22-1		SLC44A2_ENST00000586078.1_3'UTR|SLC44A2_ENST00000407327.4_Splice_Site			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2						choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	TCTCTCCACAGTGGAGGACCT	0.592																																						uc002mpf.2		NA																	0				ovary(1)	1						c.e22-1		solute carrier family 44, member 2 isoform 1	Choline(DB00122)						38.0	33.0	35.0					19																	10753954		2203	4300	6503	SO:0001630	splice_region_variant	57153				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity	g.chr19:10753954G>A	AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"""Solute carriers"""	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.2015-1G>A	19.37:g.10753954G>A						SLC44A2_uc002mpe.3_Splice_Site_p.L670_splice|SLC44A2_uc002mpg.1_3'UTR|SLC44A2_uc002mph.2_Splice_Site_p.L221_splice|SLC44A2_uc002mpi.2_Splice_Site	p.L672_splice	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		22	2154	+								B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Splice_Site	SNP	ENST00000335757.5	37	c.2015_splice	CCDS12245.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473050	0.84640	.	.	ENSG00000129353	ENST00000407327;ENST00000335757	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3806	0.87403	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC44A2	10614954	1.000000	0.71417	0.999000	0.59377	0.811000	0.45836	7.465000	0.80898	2.407000	0.81776	0.557000	0.71058	.		0.592	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1		Intron	7	6	0	0	0	0	7	6				
ZNF844	284391	broad.mit.edu	37	19	12186456	12186456	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:12186456G>A	ENST00000439326.3	+	4	696	c.521G>A	c.(520-522)tGt>tAt	p.C174Y	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	174					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TGTAAAGAATGTGGAAAAACC	0.383																																						uc002mtb.2		NA																	0					0						c.(520-522)TGT>TAT		zinc finger protein 844							48.0	42.0	43.0					19																	12186456		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12186456G>A	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.521G>A	19.37:g.12186456G>A	ENSP00000392024:p.Cys174Tyr					ZNF844_uc010dym.1_Missense_Mutation_p.C17Y	p.C174Y	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN			4	664	+			174			C2H2-type 3.		Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.521G>A	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.094102	0.56075	.	.	ENSG00000223547	ENST00000439326;ENST00000541708;ENST00000535505;ENST00000550826	D;D	0.85861	-2.04;-2.04	2.62	1.56	0.23342	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.90438	0.7006	M	0.93016	3.37	0.80722	D	1	D	0.69078	0.997	P	0.54401	0.751	D	0.89433	0.3718	9	0.87932	D	0	.	8.1861	0.31339	0.1322:0.0:0.8678:0.0	.	174	Q08AG5	ZN844_HUMAN	Y	174;174;149;17	ENSP00000392024:C174Y;ENSP00000448588:C17Y	ENSP00000392024:C174Y	C	+	2	0	ZNF844	12047456	1.000000	0.71417	0.002000	0.10522	0.129000	0.20672	7.190000	0.77755	0.411000	0.25702	0.407000	0.27541	TGT		0.383	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			12	20	0	0	0	0	12	20				
ZNF564	163050	broad.mit.edu	37	19	12639154	12639154	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:12639154A>C	ENST00000339282.7	-	3	351	c.155T>G	c.(154-156)aTt>aGt	p.I52S	CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron|CTD-2192J16.21_ENST00000601420.1_RNA	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	52	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						CCAATCTTCAATGCTCTGGTC	0.299																																						uc002mty.2		NA																	0				ovary(1)	1						c.(154-156)ATT>AGT		zinc finger protein 564							85.0	82.0	83.0					19																	12639154		1830	4074	5904	SO:0001583	missense	163050				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12639154A>C	BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"""Zinc fingers, C2H2-type"", ""-"""	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.155T>G	19.37:g.12639154A>C	ENSP00000340004:p.Ile52Ser					ZNF709_uc002mtx.3_Intron	p.I52S	NM_144976	NP_659413	Q8TBZ8	ZN564_HUMAN			3	365	-			52			KRAB.		B9EGT4|Q6P1K6	Missense_Mutation	SNP	ENST00000339282.7	37	c.155T>G	CCDS42505.1	.	.	.	.	.	.	.	.	.	.	A	12.36	1.915292	0.33815	.	.	ENSG00000249709	ENST00000339282	T	0.00848	5.62	2.0	0.882	0.19172	Krueppel-associated box (3);	.	.	.	.	T	0.01421	0.0046	M	0.73372	2.23	0.09310	N	0.999995	P	0.34587	0.458	B	0.35859	0.212	T	0.42548	-0.9445	9	0.37606	T	0.19	.	4.0137	0.09634	0.6815:0.0:0.0:0.3185	.	52	Q8TBZ8	ZN564_HUMAN	S	52	ENSP00000340004:I52S	ENSP00000340004:I52S	I	-	2	0	ZNF564	12500154	0.001000	0.12720	0.125000	0.21846	0.853000	0.48598	-0.933000	0.03959	0.044000	0.15775	0.368000	0.22195	ATT		0.299	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976		5	32	0	0	0	0	5	32				
CD97	976	broad.mit.edu	37	19	14513676	14513676	+	Splice_Site	SNP	T	T	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:14513676T>C	ENST00000242786.5	+	12	1529		c.e12+2		CD97_ENST00000357355.3_Splice_Site|CD97_ENST00000358600.3_Splice_Site|CTC-548K16.5_ENST00000590626.1_RNA	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule						cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CCTGCCAAGGTCTCTGCTCAC	0.562																																						uc002myl.2		NA																	0				ovary(3)|breast(1)	4						c.e12+2		CD97 antigen isoform 1 precursor							95.0	86.0	89.0					19																	14513676		2203	4300	6503	SO:0001630	splice_region_variant	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14513676T>C		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.1449+2T>C	19.37:g.14513676T>C						CD97_uc002mym.2_Splice_Site_p.K434_splice|CD97_uc002myn.2_Splice_Site_p.K390_splice	p.K483_splice	NM_078481	NP_510966	P48960	CD97_HUMAN			12	1572	+								A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Splice_Site	SNP	ENST00000242786.5	37	c.1449_splice	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	t	2.829	-0.243152	0.05906	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600;ENST00000393059	.	.	.	2.0	-1.98	0.07480	.	.	.	.	.	.	.	.	.	.	.	0.24338	N	0.994978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1488	0.00091	0.251:0.1603:0.2192:0.3695	.	.	.	.	.	-1	.	.	.	+	.	.	CD97	14374676	0.001000	0.12720	0.000000	0.03702	0.015000	0.08874	0.002000	0.13061	-0.683000	0.05190	0.374000	0.22700	.		0.562	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481	Intron	18	45	0	0	0	0	18	45				
CYP4F2	8529	broad.mit.edu	37	19	15989681	15989681	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:15989681C>T	ENST00000221700.6	-	13	1558	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H		NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GACGCGGAAGCGCAGCAGCGT	0.677																																						uc002nbs.1		NA																	0				ovary(1)|skin(1)	2						c.(1462-1464)CGC>CAC		cytochrome P450, family 4, subfamily F,							43.0	41.0	42.0					19																	15989681		2203	4300	6503	SO:0001583	missense	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:15989681C>T	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.1463G>A	19.37:g.15989681C>T	ENSP00000221700:p.Arg488His					CYP4F2_uc010xot.1_Missense_Mutation_p.R339H	p.R488H	NM_001082	NP_001073	P78329	CP4F2_HUMAN			13	1513	-			488						Missense_Mutation	SNP	ENST00000221700.6	37	c.1463G>A	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	c	10.42	1.344987	0.24426	.	.	ENSG00000186115	ENST00000221700;ENST00000392846	T	0.70045	-0.45	2.63	0.368	0.16146	.	0.173875	0.35235	U	0.003349	T	0.52240	0.1722	L	0.41906	1.305	0.80722	D	1	B	0.29571	0.249	B	0.34242	0.178	T	0.32877	-0.9890	10	0.40728	T	0.16	.	5.2098	0.15310	0.0:0.5619:0.0:0.4381	.	488	P78329	CP4F2_HUMAN	H	488;339	ENSP00000221700:R488H	ENSP00000221700:R488H	R	-	2	0	CYP4F2	15850681	0.646000	0.27295	0.984000	0.44739	0.412000	0.31113	1.112000	0.31172	0.020000	0.15106	-0.424000	0.05967	CGC		0.677	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		9	68	0	0	0	0	9	68				
KCNN1	3780	broad.mit.edu	37	19	18084991	18084991	+	Silent	SNP	G	G	C	rs370526158		TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:18084991G>C	ENST00000222249.9	+	3	613	c.294G>C	c.(292-294)gcG>gcC	p.A98A	RNA5SP468_ENST00000516782.1_RNA	NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	98					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	ACCGGCGGGCGCTCTTCGAGA	0.627																																						uc002nht.2		NA																	0					0						c.(292-294)GCG>GCC		potassium intermediate/small conductance							26.0	34.0	32.0					19																	18084991		2001	4165	6166	SO:0001819	synonymous_variant	3780				synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr19:18084991G>C	U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.294G>C	19.37:g.18084991G>C						KCNN1_uc010xqa.1_Silent_p.A98A	p.A98A	NM_002248	NP_002239	Q92952	KCNN1_HUMAN			3	604	+			98					Q5KR10|Q6DJU4	Silent	SNP	ENST00000222249.9	37	c.294G>C																																																																																					0.627	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471896.2	NM_002248		4	17	0	0	0	0	4	17				
IL12RB1	3594	broad.mit.edu	37	19	18191667	18191667	+	Silent	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:18191667C>T	ENST00000600835.2	-	5	682	c.384G>A	c.(382-384)gaG>gaA	p.E128E	IL12RB1_ENST00000322153.7_Silent_p.E128E|IL12RB1_ENST00000593993.2_Silent_p.E128E			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	128	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						GCAGGGTCACCTCAGGAGACT	0.582																																						uc002nhw.1		NA																	0				pancreas(1)	1						c.(382-384)GAG>GAA		interleukin 12 receptor, beta 1 isoform 1							99.0	90.0	93.0					19																	18191667		2203	4300	6503	SO:0001819	synonymous_variant	3594				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity	g.chr19:18191667C>T	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.384G>A	19.37:g.18191667C>T						IL12RB1_uc010xqb.1_Silent_p.E128E|IL12RB1_uc002nhx.1_Silent_p.E168E|IL12RB1_uc002nhy.2_Silent_p.E128E	p.E128E	NM_005535	NP_005526	P42701	I12R1_HUMAN			4	448	-			128			Extracellular (Potential).|Fibronectin type-III 1.		A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Silent	SNP	ENST00000600835.2	37	c.384G>A	CCDS54232.1																																																																																				0.582	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3			14	76	0	0	0	0	14	76				
ZNF45	7596	broad.mit.edu	37	19	44418581	44418582	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:44418581_44418582GC>AT	ENST00000269973.5	-	10	2096_2097	c.1006_1007GC>AT	c.(1006-1008)GCa>ATa	p.A336I	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Missense_Mutation_p.A336I	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	336					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						CTTGCCACATGCATTGCATTTG	0.455																																						uc002oxu.1		NA																	0				ovary(1)	1						c.(1006-1008)GCA>ATA		zinc finger protein 45																																				SO:0001583	missense	7596				multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44418581_44418582GC>AT	M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"""Zinc fingers, C2H2-type"", ""-"""	13111	protein-coding gene	gene with protein product		194554	"""zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)"", ""zinc finger protein 13"""	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.1006_1007delinsAT	19.37:g.44418581_44418582delinsAT	ENSP00000269973:p.Ala336Ile					ZNF45_uc002oxw.1_Missense_Mutation_p.A336I|ZNF45_uc002oxv.1_Missense_Mutation_p.A336I	p.A336I	NM_003425	NP_003416	Q02386	ZNF45_HUMAN			4	1105_1106	-			336			C2H2-type 7.		P17016|P78472|Q9P1U9	Missense_Mutation	DNP	ENST00000269973.5	37	c.1006_1007GC>AT	CCDS12632.1																																																																																				0.455	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	NM_003425		22	48	0	0	0	0	22	48				
CEACAM20	125931	broad.mit.edu	37	19	45016078	45016078	+	RNA	SNP	T	T	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:45016078T>A	ENST00000454753.1	-	0	1851							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				CACTCACCAGTTCGACTCTGA	0.488																																						uc010ejn.1		NA																	0				large_intestine(2)	2						c.(1570-1572)GAA>GAT		carcinoembryonic antigen-related cell adhesion							51.0	52.0	52.0					19																	45016078		2040	4193	6233			125931					integral to membrane		g.chr19:45016078T>A	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45016078T>A						CEACAM20_uc010ejo.1_Missense_Mutation_p.E524D|CEACAM20_uc010ejp.1_Missense_Mutation_p.E431D|CEACAM20_uc010ejq.1_Missense_Mutation_p.E431D	p.E524D	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN			10	1588	-		Prostate(69;0.0352)	524			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000454753.1	37	c.1572A>T																																																																																					0.488	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		3	10	0	0	0	0	3	10				
ZNF616	90317	broad.mit.edu	37	19	52618924	52618924	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:52618924C>T	ENST00000600228.1	-	4	1754	c.1493G>A	c.(1492-1494)tGt>tAt	p.C498Y	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	498					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GACCTTGCCACATTCATTGCA	0.403																																						uc002pym.2		NA																	0					0						c.(1492-1494)TGT>TAT		zinc finger protein 616							111.0	104.0	106.0					19																	52618924		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52618924C>T	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.1493G>A	19.37:g.52618924C>T	ENSP00000471000:p.Cys498Tyr					ZNF616_uc002pyn.2_RNA	p.C498Y	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	1776	-			498			C2H2-type 12.		B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.1493G>A	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.718186	0.68844	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.08	1.08	0.20341	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.82199	0.4985	H	0.95780	3.72	0.35659	D	0.812377	D	0.76494	0.999	D	0.80764	0.994	D	0.86530	0.1821	8	0.87932	D	0	.	9.6783	0.40054	0.0:1.0:0.0:0.0	.	498	Q08AN1	ZN616_HUMAN	Y	498	.	ENSP00000328722:C498Y	C	-	2	0	ZNF616	57310736	0.995000	0.38212	0.053000	0.19242	0.791000	0.44710	3.616000	0.54174	0.883000	0.36040	0.305000	0.20034	TGT		0.403	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		13	97	0	0	0	0	13	97				
NLRP7	199713	broad.mit.edu	37	19	55441964	55441964	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:55441964G>T	ENST00000590030.1	-	8	2753	c.2713C>A	c.(2713-2715)Ctc>Atc	p.L905I	NLRP7_ENST00000592784.1_Missense_Mutation_p.L905I|NLRP7_ENST00000448121.2_Missense_Mutation_p.L877I|NLRP7_ENST00000446217.1_Missense_Mutation_p.L933I|NLRP7_ENST00000340844.2_Missense_Mutation_p.L905I|NLRP7_ENST00000588756.1_Missense_Mutation_p.L905I|NLRP7_ENST00000328092.5_Missense_Mutation_p.L877I			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	905							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGGTTTGTGAGGCTGCAGGCT	0.463																																						uc002qih.3		NA																	0				large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(2713-2715)CTC>ATC		NACHT, leucine rich repeat and PYD containing 7							134.0	129.0	131.0					19																	55441964		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55441964G>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.2713C>A	19.37:g.55441964G>T	ENSP00000465520:p.Leu905Ile					NLRP7_uc002qig.3_Missense_Mutation_p.L877I|NLRP7_uc002qii.3_Missense_Mutation_p.L905I|NLRP7_uc010esk.2_Missense_Mutation_p.L905I|NLRP7_uc010esl.2_Missense_Mutation_p.L933I	p.L905I	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	9	2789	-			905			LRR 8.		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.2713C>A	CCDS33109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.73|12.73	2.024836|2.024836	0.35701|0.35701	.|.	.|.	ENSG00000167634|ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217|ENST00000399724	T;T;T;T|.	0.78707|.	-1.2;-1.14;-1.14;-1.14|.	2.17|2.17	1.08|1.08	0.20341|0.20341	.|.	.|.	.|.	.|.	.|.	T|T	0.65123|0.65123	0.2661|0.2661	M|M	0.93594|0.93594	3.435|3.435	0.09310|0.09310	N|N	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.998;0.999;0.999;0.999|.	T|T	0.57039|0.57039	-0.7879|-0.7879	9|6	0.72032|0.62326	D|D	0.01|0.03	.|.	5.8819|5.8819	0.18860|0.18860	0.0:0.0:0.6877:0.3123|0.0:0.0:0.6877:0.3123	.|.	933;905;905;877|.	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2|.	.;.;NALP7_HUMAN;.|.	I|H	905;877;905;933|646	ENSP00000329568:L905I;ENSP00000409137:L877I;ENSP00000339491:L905I;ENSP00000414273:L933I|.	ENSP00000329568:L905I|ENSP00000399301:P646H	L|P	-|-	1|2	0|0	NLRP7|NLRP7	60133776|60133776	0.804000|0.804000	0.28969|0.28969	0.021000|0.021000	0.16686|0.16686	0.026000|0.026000	0.11368|0.11368	1.547000|1.547000	0.36190|0.36190	0.443000|0.443000	0.26582|0.26582	0.651000|0.651000	0.88453|0.88453	CTC|CCT		0.463	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		50	66	1	0	3.32e-32	6.59e-32	50	66				
ZNF470	388566	broad.mit.edu	37	19	57089845	57089845	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:57089845G>A	ENST00000330619.8	+	6	2734	c.2048G>A	c.(2047-2049)gGa>gAa	p.G683E	ZNF470_ENST00000391709.3_Missense_Mutation_p.G683E|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	683					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AAAGAATGTGGAAAAGCCTTC	0.458																																						uc002qnl.3		NA																	0				ovary(1)|pancreas(1)	2						c.(2047-2049)GGA>GAA		zinc finger protein 470							102.0	96.0	98.0					19																	57089845		2203	4300	6503	SO:0001583	missense	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57089845G>A	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.2048G>A	19.37:g.57089845G>A	ENSP00000333223:p.Gly683Glu					ZNF470_uc010etn.2_Intron	p.G683E	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	6	2724	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	683			C2H2-type 17.		A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	c.2048G>A	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.097925	0.56075	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.07114	3.22;3.22	4.07	4.07	0.47477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17195	0.0413	L	0.60012	1.86	0.28817	N	0.897895	D	0.53885	0.963	P	0.54346	0.749	T	0.02539	-1.1144	9	0.72032	D	0.01	.	9.0723	0.36500	0.1028:0.0:0.8972:0.0	.	683	Q6ECI4	ZN470_HUMAN	E	683	ENSP00000375590:G683E;ENSP00000333223:G683E	ENSP00000333223:G683E	G	+	2	0	ZNF470	61781657	0.265000	0.24102	0.239000	0.24122	0.926000	0.56050	2.560000	0.45896	2.109000	0.64355	0.561000	0.74099	GGA		0.458	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		11	47	0	0	0	0	11	47				
ZNF547	284306	broad.mit.edu	37	19	57879930	57879930	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:57879930G>A	ENST00000282282.3	+	2	157	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	AC003002.4_ENST00000597658.1_Missense_Mutation_p.E3K	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	3					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGCGATGGCAGAAATGAACCC	0.493																																						uc002qol.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(7-9)GAA>AAA		zinc finger protein 547							207.0	167.0	181.0					19																	57879930		2203	4300	6503	SO:0001583	missense	284306				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57879930G>A	AK055662	CCDS33131.1	19q13.43	2013-01-08				ENSG00000152433		"""Zinc fingers, C2H2-type"", ""-"""	26432	protein-coding gene	gene with protein product							Standard	NM_173631		Approved	FLJ31100	uc002qol.3	Q8IVP9		ENST00000282282.3:c.7G>A	19.37:g.57879930G>A	ENSP00000282282:p.Glu3Lys					ZNF547_uc010ygx.1_Missense_Mutation_p.E3K	p.E3K	NM_173631	NP_775902	Q8IVP9	ZN547_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	2	200	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	3					A8K5Z9|Q96NC4	Missense_Mutation	SNP	ENST00000282282.3	37	c.7G>A	CCDS33131.1	.	.	.	.	.	.	.	.	.	.	G	9.750	1.167097	0.21621	.	.	ENSG00000152433	ENST00000391704;ENST00000282282	T	0.04917	3.53	1.3	0.241	0.15494	.	.	.	.	.	T	0.02342	0.0072	N	0.03608	-0.345	0.09310	N	1	P;B	0.49783	0.928;0.356	B;B	0.38616	0.277;0.035	T	0.40850	-0.9541	9	0.54805	T	0.06	.	3.3878	0.07278	0.2775:0.0:0.7225:0.0	.	3;3	Q8IVP9-2;Q8IVP9	.;ZN547_HUMAN	K	3	ENSP00000282282:E3K	ENSP00000282282:E3K	E	+	1	0	ZNF547	62571742	0.490000	0.26012	0.004000	0.12327	0.159000	0.22180	1.960000	0.40422	0.117000	0.18138	0.467000	0.42956	GAA		0.493	ZNF547-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465787.1	NM_173631		7	56	0	0	0	0	7	56				
A1BG	1	broad.mit.edu	37	19	58862944	58862944	+	Missense_Mutation	SNP	G	G	T	rs117988784		TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:58862944G>T	ENST00000263100.3	-	5	784	c.723C>A	c.(721-723)ttC>ttA	p.F241L	CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593960.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	241	Ig-like V-type 3.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		GCCGTAGCTGGAAGTCCACTC	0.637																																						uc002qsd.3		NA																	0					0						c.(721-723)TTC>TTA		alpha 1B-glycoprotein precursor							65.0	50.0	55.0					19																	58862944		2203	4300	6503	SO:0001583	missense	1					extracellular region		g.chr19:58862944G>T		CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5	protein-coding gene	gene with protein product		138670				2591067	Standard	NM_130786		Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.723C>A	19.37:g.58862944G>T	ENSP00000263100:p.Phe241Leu					NCRNA00181_uc002qse.2_Intron|A1BG_uc002qsf.1_RNA|NCRNA00181_uc002qsg.2_5'Flank	p.F241L	NM_130786	NP_570602	P04217	A1BG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)	5	785	-		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)	241			Ig-like V-type 3.		A8K052|Q68CK0|Q8IYJ6|Q96P39	Missense_Mutation	SNP	ENST00000263100.3	37	c.723C>A	CCDS12976.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.240443	0.58995	.	.	ENSG00000121410	ENST00000263100;ENST00000453054	T	0.11821	2.74	4.08	4.08	0.47627	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.47852	D	0.000206	T	0.42040	0.1185	M	0.87682	2.9	0.43408	D	0.99554	D	0.89917	1.0	D	0.77557	0.99	T	0.51694	-0.8673	10	0.87932	D	0	.	14.5849	0.68317	0.0:0.0:1.0:0.0	.	241	P04217	A1BG_HUMAN	L	241;119	ENSP00000263100:F241L	ENSP00000263100:F241L	F	-	3	2	A1BG	63554756	0.000000	0.05858	0.986000	0.45419	0.163000	0.22366	0.311000	0.19380	2.217000	0.71921	0.462000	0.41574	TTC		0.637	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466930.1	NM_130786		15	23	1	0	1.63e-17	3.21e-17	15	23				
SLC27A5	10998	broad.mit.edu	37	19	59011917	59011917	+	Missense_Mutation	SNP	G	G	A	rs558863851		TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr19:59011917G>A	ENST00000263093.2	-	5	1448	c.1339C>T	c.(1339-1341)Cgc>Tgc	p.R447C	SLC27A5_ENST00000599700.1_5'Flank|SLC27A5_ENST00000601355.1_Missense_Mutation_p.R363C|SLC27A5_ENST00000594786.1_5'Flank	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	447					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GCCCCGCAGCGCCCCACATAG	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17577	0.0		0.0	False		,,,				2504	0.0					uc002qtc.2		NA																	0					0						c.(1339-1341)CGC>TGC		solute carrier family 27 (fatty acid							80.0	72.0	75.0					19																	59011917		2203	4300	6503	SO:0001583	missense	10998				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	g.chr19:59011917G>A	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1339C>T	19.37:g.59011917G>A	ENSP00000263093:p.Arg447Cys					SLC27A5_uc002qtb.2_5'Flank	p.R447C	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)	5	1449	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	447			Cytoplasmic (Probable).		B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	37	c.1339C>T	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408143	0.62399	.	.	ENSG00000083807	ENST00000263093	T	0.43294	0.95	5.33	4.28	0.50868	AMP-dependent synthetase/ligase (1);	0.377730	0.28393	N	0.015502	T	0.63954	0.2555	M	0.83118	2.625	0.30853	N	0.734336	D	0.76494	0.999	D	0.67725	0.953	T	0.70288	-0.4913	10	0.87932	D	0	-13.0742	11.6284	0.51160	0.0:0.0:0.822:0.178	.	447	Q9Y2P5	S27A5_HUMAN	C	447	ENSP00000263093:R447C	ENSP00000263093:R447C	R	-	1	0	SLC27A5	63703729	0.029000	0.19370	0.314000	0.25224	0.647000	0.38526	1.920000	0.40025	1.363000	0.46019	0.563000	0.77884	CGC		0.602	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254		10	32	0	0	0	0	10	32				
LTBP1	4052	broad.mit.edu	37	2	33412051	33412051	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr2:33412051C>T	ENST00000404816.2	+	6	1683	c.1330C>T	c.(1330-1332)Cag>Tag	p.Q444*	LTBP1_ENST00000404525.1_Nonsense_Mutation_p.Q118*|LTBP1_ENST00000390003.4_Nonsense_Mutation_p.Q118*|LTBP1_ENST00000402934.1_Nonsense_Mutation_p.Q118*|LTBP1_ENST00000354476.3_Nonsense_Mutation_p.Q444*|LTBP1_ENST00000418533.2_Nonsense_Mutation_p.Q118*|LTBP1_ENST00000407925.1_Nonsense_Mutation_p.Q118*			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	444					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TAAACTTTATCAGCATTCCCA	0.512																																						uc002ros.2		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(1330-1332)CAG>TAG		latent transforming growth factor beta binding							119.0	103.0	108.0					2																	33412051		2203	4300	6503	SO:0001587	stop_gained	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33412051C>T		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.1330C>T	2.37:g.33412051C>T	ENSP00000386043:p.Gln444*					LTBP1_uc002rot.2_Nonsense_Mutation_p.Q118*|LTBP1_uc002rou.2_Nonsense_Mutation_p.Q118*|LTBP1_uc002rov.2_Nonsense_Mutation_p.Q118*|LTBP1_uc010ymz.1_Nonsense_Mutation_p.Q118*|LTBP1_uc010yna.1_Nonsense_Mutation_p.Q118*	p.Q444*	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			6	1330	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	444					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Nonsense_Mutation	SNP	ENST00000404816.2	37	c.1330C>T	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	C	36	5.640788	0.96693	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000432635;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	19.1993	0.93704	0.0:1.0:0.0:0.0	.	.	.	.	X	444;444;133;118;118;118;118;118	.	ENSP00000346467:Q444X	Q	+	1	0	LTBP1	33265555	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	7.191000	0.77763	2.526000	0.85167	0.655000	0.94253	CAG		0.512	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		18	50	0	0	0	0	18	50				
CTNNA2	1496	broad.mit.edu	37	2	80097053	80097053	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr2:80097053A>G	ENST00000402739.4	+	4	582	c.577A>G	c.(577-579)Aga>Gga	p.R193G	CTNNA2_ENST00000540488.1_Missense_Mutation_p.R193G|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R193G|CTNNA2_ENST00000466387.1_Missense_Mutation_p.R193G|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R193G|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R227G	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	193					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGCAGCAAGAAGACAACAGGT	0.403																																						uc010ysh.1		NA																	0				pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(577-579)AGA>GGA		catenin, alpha 2 isoform 1							108.0	101.0	103.0					2																	80097053		1849	4108	5957	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80097053A>G		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.577A>G	2.37:g.80097053A>G	ENSP00000384638:p.Arg193Gly					CTNNA2_uc010yse.1_Missense_Mutation_p.R193G|CTNNA2_uc010ysf.1_Missense_Mutation_p.R193G|CTNNA2_uc010ysg.1_Missense_Mutation_p.R193G	p.R193G	NM_004389	NP_004380	P26232	CTNA2_HUMAN			4	582	+			193					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.577A>G		.	.	.	.	.	.	.	.	.	.	A	20.6	4.021153	0.75275	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	5.91	4.75	0.60458	Vinculin, conserved site (1);	0.053257	0.64402	D	0.000001	T	0.79964	0.4537	M	0.92555	3.32	0.58432	D	0.999995	P;D;D	0.58970	0.869;0.984;0.984	P;P;P	0.56865	0.722;0.808;0.808	D	0.83979	0.0331	10	0.66056	D	0.02	.	12.8635	0.57926	0.7361:0.2639:0.0:0.0	.	193;193;193	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	G	193;193;227;193;193;193	ENSP00000418191:R193G;ENSP00000419295:R193G;ENSP00000355398:R227G;ENSP00000384638:R193G;ENSP00000444675:R193G;ENSP00000441705:R193G	ENSP00000355398:R227G	R	+	1	2	CTNNA2	79950561	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	3.157000	0.50716	1.046000	0.40249	0.533000	0.62120	AGA		0.403	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		16	68	0	0	0	0	16	68				
NEB	4703	broad.mit.edu	37	2	152586143	152586143	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr2:152586143C>T	ENST00000172853.10	-	4	211	c.64G>A	c.(64-66)Gag>Aag	p.E22K	NEB_ENST00000604864.1_Missense_Mutation_p.E22K|NEB_ENST00000603639.1_Missense_Mutation_p.E22K|NEB_ENST00000427231.2_Missense_Mutation_p.E22K|NEB_ENST00000397345.3_Missense_Mutation_p.E22K|NEB_ENST00000409198.1_Missense_Mutation_p.E22K			P20929	NEBU_HUMAN	nebulin	22					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCCGGCACCTCTTCGTAAACC	0.493																																						uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(64-66)GAG>AAG		nebulin isoform 3							120.0	118.0	118.0					2																	152586143		1989	4158	6147	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152586143C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.64G>A	2.37:g.152586143C>T	ENSP00000172853:p.Glu22Lys						p.E22K	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	4	255	-			22					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.64G>A		.	.	.	.	.	.	.	.	.	.	C	17.04	3.287996	0.59976	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000439291	T;T;T;T	0.07567	3.19;3.18;3.18;3.19	5.57	5.57	0.84162	.	0.195241	0.35262	N	0.003322	T	0.06872	0.0175	L	0.29908	0.895	0.80722	D	1	B	0.23058	0.079	B	0.16289	0.015	T	0.29488	-1.0010	10	0.10111	T	0.7	.	15.055	0.71908	0.0:1.0:0.0:0.0	.	22	P20929	NEBU_HUMAN	K	22	ENSP00000386259:E22K;ENSP00000380505:E22K;ENSP00000416578:E22K;ENSP00000172853:E22K	ENSP00000172853:E22K	E	-	1	0	NEB	152294389	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	3.842000	0.55858	2.622000	0.88805	0.655000	0.94253	GAG		0.493	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		42	65	0	0	0	0	42	65				
SCN9A	6335	broad.mit.edu	37	2	167060716	167060716	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr2:167060716A>G	ENST00000409435.1	-	25	4522	c.4523T>C	c.(4522-4524)aTa>aCa	p.I1508T	SCN9A_ENST00000375387.4_Missense_Mutation_p.I1509T|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.I1509T|SCN9A_ENST00000409672.1_Missense_Mutation_p.I1497T			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1508					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TAGGTCAAATATACATCCTTG	0.318																																						uc010fpl.2		NA																	0				ovary(6)|central_nervous_system(5)|skin(2)	13						c.(4489-4491)ATA>ACA		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)						83.0	75.0	78.0					2																	167060716		1822	4081	5903	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167060716A>G	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.4523T>C	2.37:g.167060716A>G	ENSP00000386330:p.Ile1508Thr					uc002udp.2_Intron	p.I1497T	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			26	4831	-			1508					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.4490T>C	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.932100	0.52866	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.96427	-3.99;-4.01;-4.01;-4.01	4.47	4.47	0.54385	.	0.062806	0.64402	D	0.000010	D	0.95990	0.8694	M	0.86028	2.79	0.42527	D	0.993024	P	0.38335	0.627	B	0.37550	0.253	D	0.96651	0.9481	10	0.87932	D	0	.	14.0598	0.64793	1.0:0.0:0.0:0.0	.	1497	E7EUN6	.	T	1497;1509;1509;1508	ENSP00000386306:I1497T;ENSP00000364536:I1509T;ENSP00000304748:I1509T;ENSP00000386330:I1508T	ENSP00000304748:I1509T	I	-	2	0	SCN9A	166768962	0.991000	0.36638	1.000000	0.80357	0.973000	0.67179	9.247000	0.95444	1.794000	0.52575	0.374000	0.22700	ATA		0.318	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		17	24	0	0	0	0	17	24				
TTN	7273	broad.mit.edu	37	2	179528604	179528604	+	Intron	SNP	G	G	A	rs564173285		TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr2:179528604G>A	ENST00000591111.1	-	154	34489				TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Silent_p.I12130I|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCTTCGCGGATAACCTCTT	0.423													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17901	0.0		0.0	False		,,,				2504	0.0					uc010zfk.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.(826-828)ATC>ATT		SubName: Full=Titin; Flags: Fragment;							295.0	272.0	279.0					2																	179528604		876	1991	2867	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179528604G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34265-5083C>T	2.37:g.179528604G>A						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron	p.I276I			Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		15	1376	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.828C>T		.	.	.	.	.	.	.	.	.	.	G	3.099	-0.185282	0.06340	.	.	ENSG00000155657	ENST00000425332	.	.	.	4.77	1.85	0.25348	.	.	.	.	.	T	0.34483	0.0899	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.23084	-1.0198	4	.	.	.	.	8.2524	0.31735	0.4382:0.0:0.5618:0.0	.	.	.	.	F	194	.	.	S	-	2	0	TTN	179236849	0.000000	0.05858	0.613000	0.29037	0.001000	0.01503	-0.197000	0.09518	0.133000	0.18654	-0.222000	0.12452	TCC		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		84	202	0	0	0	0	84	202				
COL5A2	1290	broad.mit.edu	37	2	189906418	189906418	+	Splice_Site	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr2:189906418C>T	ENST00000374866.3	-	50	3801	c.3527G>A	c.(3526-3528)gGt>gAt	p.G1176D		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1176					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GCCTGGAGGACCCTGCAAGAA	0.448																																						uc002uqk.2		NA																	0				ovary(2)	2						c.(3526-3528)GGT>GAT		alpha 2 type V collagen preproprotein							66.0	66.0	66.0					2																	189906418		2203	4300	6503	SO:0001630	splice_region_variant	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189906418C>T	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.3526-1G>A	2.37:g.189906418C>T						COL5A2_uc010frx.2_Missense_Mutation_p.G752D	p.G1176D	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		50	3802	-			1176					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.3527G>A	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412081	0.83340	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.99353	-5.77	5.72	5.72	0.89469	.	0.000000	0.51477	D	0.000095	D	0.99680	0.9880	H	0.97023	3.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97692	1.0179	10	0.87932	D	0	.	20.2406	0.98372	0.0:1.0:0.0:0.0	.	816;1176	Q5PR22;P05997	.;CO5A2_HUMAN	D	1176;816	ENSP00000364000:G1176D	ENSP00000364000:G1176D	G	-	2	0	COL5A2	189614663	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.776000	0.85560	2.857000	0.98124	0.650000	0.86243	GGT		0.448	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393	Missense_Mutation	29	74	0	0	0	0	29	74				
DNAH7	56171	broad.mit.edu	37	2	196718132	196718132	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr2:196718132C>A	ENST00000312428.6	-	46	8816	c.8716G>T	c.(8716-8718)Ggg>Tgg	p.G2906W		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2906					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGGATATCCCCAGTCAAGTTG	0.507																																						uc002utj.3		NA																	0				skin(10)|ovary(2)	12						c.(8716-8718)GGG>TGG		dynein, axonemal, heavy chain 7							118.0	116.0	117.0					2																	196718132		1999	4181	6180	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196718132C>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.8716G>T	2.37:g.196718132C>A	ENSP00000311273:p.Gly2906Trp						p.G2906W	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			46	8817	-			2906					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.8716G>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244740	0.59103	.	.	ENSG00000118997	ENST00000312428	D	0.83419	-1.72	5.55	5.55	0.83447	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.95875	0.8657	H	0.99746	4.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97472	1.0041	10	0.87932	D	0	.	19.6982	0.96039	0.0:1.0:0.0:0.0	.	2906	Q8WXX0	DYH7_HUMAN	W	2906	ENSP00000311273:G2906W	ENSP00000311273:G2906W	G	-	1	0	DNAH7	196426377	1.000000	0.71417	0.278000	0.24718	0.086000	0.17979	7.578000	0.82498	2.894000	0.99253	0.655000	0.94253	GGG		0.507	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		22	23	1	0	1.28e-07	2.41e-07	22	23				
MDH1B	130752	broad.mit.edu	37	2	207605810	207605810	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr2:207605810G>A	ENST00000374412.3	-	10	1702	c.1427C>T	c.(1426-1428)cCt>cTt	p.P476L	MDH1B_ENST00000454776.2_Missense_Mutation_p.P476L|MDH1B_ENST00000449792.1_Missense_Mutation_p.P378L	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	476					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TTCTTCATCAGGGACCAGATC	0.338																																					Pancreas(76;29 1355 28675 37177 51207)	uc002vbs.2		NA																	0				ovary(3)|kidney(1)	4						c.(1426-1428)CCT>CTT		malate dehydrogenase 1B, NAD (soluble)							121.0	112.0	115.0					2																	207605810		2202	4300	6502	SO:0001583	missense	130752				carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	g.chr2:207605810G>A		CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.1427C>T	2.37:g.207605810G>A	ENSP00000363533:p.Pro476Leu					MDH1B_uc010ziw.1_RNA|MDH1B_uc010fui.2_Missense_Mutation_p.P476L|MDH1B_uc010fuj.2_Missense_Mutation_p.P378L|MDH1B_uc002vbt.2_RNA	p.P476L	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)	10	1482	-			476					A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	ENST00000374412.3	37	c.1427C>T	CCDS33365.1	.	.	.	.	.	.	.	.	.	.	G	7.809	0.715331	0.15306	.	.	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776	T;T;T	0.36157	1.32;1.27;1.32	3.96	-1.83	0.07833	.	1.123640	0.06910	N	0.807524	T	0.20700	0.0498	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.30534	-0.9975	10	0.66056	D	0.02	1.1248	6.5339	0.22341	0.104:0.0:0.3564:0.5395	.	476;476	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	L	476;378;476	ENSP00000363533:P476L;ENSP00000416577:P378L;ENSP00000389916:P476L	ENSP00000363533:P476L	P	-	2	0	MDH1B	207314055	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.337000	0.07852	-0.361000	0.08125	-0.311000	0.09066	CCT		0.338	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845		20	25	0	0	0	0	20	25				
SLC52A3	113278	broad.mit.edu	37	20	745904	745904	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr20:745904A>G	ENST00000217254.7	-	2	756	c.515T>C	c.(514-516)aTa>aCa	p.I172T	SLC52A3_ENST00000381944.3_Missense_Mutation_p.I172T|SLC52A3_ENST00000473664.1_5'UTR	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	172					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)										GCTGTCTGATATCTCAGTGAC	0.577																																						uc002wed.3		NA																	0				ovary(2)	2						c.(514-516)ATA>ACA		hypothetical protein LOC113278 precursor							84.0	78.0	80.0					20																	745904		2203	4300	6503	SO:0001583	missense	113278				sensory perception of sound	integral to plasma membrane	riboflavin transporter activity	g.chr20:745904A>G	AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"""Solute carriers"""	16187	protein-coding gene	gene with protein product	"""hypothetical protein LOC113278"""	613350	"""chromosome 20 open reading frame 54"""	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.515T>C	20.37:g.745904A>G	ENSP00000217254:p.Ile172Thr					C20orf54_uc002wee.2_Missense_Mutation_p.I172T	p.I172T	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN			2	854	-			172					A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Missense_Mutation	SNP	ENST00000217254.7	37	c.515T>C	CCDS13007.1	.	.	.	.	.	.	.	.	.	.	A	2.048	-0.418456	0.04766	.	.	ENSG00000101276	ENST00000217254;ENST00000381944	T;T	0.70869	-0.52;-0.52	4.5	0.146	0.14833	.	1.399130	0.04177	N	0.325916	T	0.33527	0.0866	N	0.00729	-1.24	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37753	-0.9692	10	0.08599	T	0.76	3.9218	3.4678	0.07555	0.4665:0.0:0.3503:0.1833	.	172;172	Q9NQ40-2;Q9NQ40	.;RFT2_HUMAN	T	172	ENSP00000217254:I172T;ENSP00000371370:I172T	ENSP00000217254:I172T	I	-	2	0	C20orf54	693904	0.003000	0.15002	0.000000	0.03702	0.022000	0.10575	1.330000	0.33781	0.189000	0.20188	0.459000	0.35465	ATA		0.577	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077482.2	NM_033409		15	73	0	0	0	0	15	73				
ITPA	3704	broad.mit.edu	37	20	3202541	3202541	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr20:3202541C>T	ENST00000380113.3	+	7	658	c.466C>T	c.(466-468)Cag>Tag	p.Q156*	ITPA_ENST00000399838.3_Nonsense_Mutation_p.Q115*|ITPA_ENST00000455664.2_Nonsense_Mutation_p.Q139*|ITPA_ENST00000483354.1_3'UTR	NM_033453.3|NM_181493.2	NP_258412.1|NP_852470.1			inosine triphosphatase (nucleoside triphosphate pyrophosphatase)											autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						CCCCTGCTTTCAGCCTGATGG	0.617																																						uc002wid.2		NA																	0				ovary(1)	1						c.(466-468)CAG>TAG		inosine triphosphatase isoform a							75.0	71.0	72.0					20																	3202541		2203	4300	6503	SO:0001587	stop_gained	3704				nucleotide metabolic process	cytoplasm	metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding	g.chr20:3202541C>T	AF026816	CCDS13051.1, CCDS46576.1, CCDS58762.1	20p	2002-02-01			ENSG00000125877	ENSG00000125877	3.6.1.19		6176	protein-coding gene	gene with protein product		147520		C20orf37		11278832	Standard	NM_033453		Approved	HLC14-06-P, dJ794I6.3	uc002wid.4	Q9BY32	OTTHUMG00000031738	ENST00000380113.3:c.466C>T	20.37:g.3202541C>T	ENSP00000369456:p.Gln156*					ITPA_uc002wie.2_Nonsense_Mutation_p.Q139*|ITPA_uc002wif.2_RNA	p.Q156*	NM_033453	NP_258412	Q9BY32	ITPA_HUMAN			7	608	+			156						Nonsense_Mutation	SNP	ENST00000380113.3	37	c.466C>T	CCDS13051.1	.	.	.	.	.	.	.	.	.	.	C	36	5.693528	0.96793	.	.	ENSG00000125877	ENST00000380113;ENST00000455664;ENST00000399838	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	14.8695	0.70444	0.0:1.0:0.0:0.0	.	.	.	.	X	156;139;115	.	ENSP00000369456:Q156X	Q	+	1	0	ITPA	3150541	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.222000	0.72249	2.644000	0.89710	0.561000	0.74099	CAG		0.617	ITPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077719.2			9	41	0	0	0	0	9	41				
PROCR	10544	broad.mit.edu	37	20	33764086	33764086	+	Silent	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr20:33764086G>A	ENST00000216968.4	+	3	520	c.438G>A	c.(436-438)gaG>gaA	p.E146E	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	146					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|immune response (GO:0006955)|negative regulation of coagulation (GO:0050819)	cell surface (GO:0009986)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	TCCGGCCGGAGAGAGCCTTGT	0.607																																						uc002xbt.2		NA																	0					0						c.(436-438)GAG>GAA		endothelial protein C receptor precursor	Drotrecogin alfa(DB00055)						80.0	73.0	76.0					20																	33764086		2203	4300	6503	SO:0001819	synonymous_variant	10544				antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity	g.chr20:33764086G>A	L35545	CCDS13248.1	20q11.2	2010-05-04	2010-05-04		ENSG00000101000	ENSG00000101000		"""CD molecules"""	9452	protein-coding gene	gene with protein product		600646				7929370, 10518938	Standard	NM_006404		Approved	EPCR, CCD41, CD201	uc002xbt.3	Q9UNN8	OTTHUMG00000032323	ENST00000216968.4:c.438G>A	20.37:g.33764086G>A						EDEM2_uc010zuv.1_Intron|PROCR_uc010zuw.1_Silent_p.E183E	p.E146E	NM_006404	NP_006395	Q9UNN8	EPCR_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0152)		3	622	+			146			Extracellular (Potential).		B2RC04|Q14218|Q6IB56|Q96CB3|Q9ULX1	Silent	SNP	ENST00000216968.4	37	c.438G>A	CCDS13248.1																																																																																				0.607	PROCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078843.3			40	76	0	0	0	0	40	76				
CD40	958	broad.mit.edu	37	20	44756788	44756788	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr20:44756788C>T	ENST00000372285.3	+	7	643	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	CD40_ENST00000489304.1_3'UTR|CD40_ENST00000372276.3_Missense_Mutation_p.S170L	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	191					B cell proliferation (GO:0042100)|cellular calcium ion homeostasis (GO:0006874)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|protein complex assembly (GO:0006461)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	CD40 receptor complex (GO:0035631)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|enzyme binding (GO:0019899)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)				TCCCCAGGATCGGCTGAGAGC	0.547									Immune Deficiency with Hyper-IgM		OREG0025991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002xrg.1		NA																	0				lung(1)|skin(1)	2						c.(571-573)CGG>TGG		CD40 antigen isoform 1 precursor	Simvastatin(DB00641)						149.0	134.0	139.0					20																	44756788		2203	4300	6503	SO:0001583	missense	958	Immune_Deficiency_with_Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity	g.chr20:44756788C>T	X60592	CCDS13393.1, CCDS13394.1	20q12-q13.2	2014-09-17	2006-03-28	2005-01-14	ENSG00000101017	ENSG00000101017		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11919	protein-coding gene	gene with protein product		109535	"""tumor necrosis factor receptor superfamily, member 5"""	TNFRSF5		7687385, 2998589	Standard	XM_005260617		Approved	p50, Bp50	uc002xrg.1	P25942	OTTHUMG00000033053	ENST00000372285.3:c.571C>T	20.37:g.44756788C>T	ENSP00000361359:p.Arg191Trp		OREG0025991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	926	CD40_uc002xrh.1_Missense_Mutation_p.S170L|CD40_uc002xri.1_Missense_Mutation_p.S204L|CD40_uc002xrj.1_RNA|CD40_uc002xrk.1_RNA|CD40_uc002xrl.1_RNA	p.R191W	NM_001250	NP_001241	P25942	TNR5_HUMAN			7	648	+		Myeloproliferative disorder(115;0.0122)	191			Extracellular (Potential).		E1P5S9|Q53GN5|Q5JY15|Q5U007|Q7M4Q8|Q86YK5|Q9BYU0	Missense_Mutation	SNP	ENST00000372285.3	37	c.571C>T	CCDS13393.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.92|16.92	3.254948|3.254948	0.59321|0.59321	.|.	.|.	ENSG00000101017|ENSG00000101017	ENST00000372285|ENST00000372276	T|T	0.75050|0.59083	-0.9|0.29	4.58|4.58	4.58|4.58	0.56647|0.56647	.|.	16.482100|.	0.00907|.	U|.	0.002430|.	T|T	0.55673|0.55673	0.1935|0.1935	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	D|D	0.89917|0.62365	1.0|0.991	D|P	0.91635|0.50405	0.999|0.64	T|T	0.44802|0.44802	-0.9304|-0.9304	9|8	0.56958|0.22706	D|T	0.05|0.39	-18.3724|-18.3724	12.7642|12.7642	0.57383|0.57383	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	191|170	P25942|P25942-2	TNR5_HUMAN|.	W|L	191|170	ENSP00000361359:R191W|ENSP00000361350:S170L	ENSP00000361359:R191W|ENSP00000361350:S170L	R|S	+|+	1|2	2|0	CD40|CD40	44190195|44190195	0.918000|0.918000	0.31147|0.31147	0.134000|0.134000	0.22075|0.22075	0.010000|0.010000	0.07245|0.07245	1.968000|1.968000	0.40500|0.40500	2.371000|2.371000	0.80710|0.80710	0.491000|0.491000	0.48974|0.48974	CGG|TCG		0.547	CD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080376.1	NM_001250		14	102	0	0	0	0	14	102				
SULF2	55959	broad.mit.edu	37	20	46301111	46301111	+	Silent	SNP	C	C	A	rs193164317	byFrequency	TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr20:46301111C>A	ENST00000359930.4	-	11	2258	c.1407G>T	c.(1405-1407)acG>acT	p.T469T	SULF2_ENST00000361612.4_Silent_p.T469T|SULF2_ENST00000467815.1_Silent_p.T469T|SULF2_ENST00000484875.1_Silent_p.T469T	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	469					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.T469T(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TCAGCTTCCCCGTGGCGTCCT	0.652																																						uc002xto.2		NA																	1	Substitution - coding silent(1)		prostate(1)	ovary(2)|breast(2)|pancreas(1)|skin(1)	6						c.(1405-1407)ACG>ACT		sulfatase 2 isoform a precursor							44.0	39.0	41.0					20																	46301111		2203	4300	6503	SO:0001819	synonymous_variant	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46301111C>A	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.1407G>T	20.37:g.46301111C>A						SULF2_uc002xtr.2_Silent_p.T469T|SULF2_uc002xtq.2_Silent_p.T469T	p.T469T	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN			11	1737	-			469					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Silent	SNP	ENST00000359930.4	37	c.1407G>T	CCDS13408.1																																																																																				0.652	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		4	31	1	0	0.00024832	0.000444785	4	31				
COMT	1312	broad.mit.edu	37	22	19950331	19950331	+	Silent	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr22:19950331C>T	ENST00000361682.6	+	3	664	c.282C>T	c.(280-282)gaC>gaT	p.D94D	COMT_ENST00000403184.1_Silent_p.D94D|COMT_ENST00000406520.3_Silent_p.D94D|COMT_ENST00000403710.1_Silent_p.D94D|COMT_ENST00000449653.1_Silent_p.D44D|COMT_ENST00000407537.1_Silent_p.D44D|MIR4761_ENST00000585066.1_RNA	NM_000754.3	NP_000745.1	P21964	COMT_HUMAN	catechol-O-methyltransferase	94					cellular response to phosphate starvation (GO:0016036)|dopamine catabolic process (GO:0042420)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|learning (GO:0007612)|methylation (GO:0032259)|multicellular organismal reproductive process (GO:0048609)|negative regulation of dopamine metabolic process (GO:0045963)|negative regulation of smooth muscle cell proliferation (GO:0048662)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|positive regulation of homocysteine metabolic process (GO:0050668)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	catechol O-methyltransferase activity (GO:0016206)|magnesium ion binding (GO:0000287)|O-methyltransferase activity (GO:0008171)			kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5	Colorectal(54;0.0993)				Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Methyldopa(DB00968)|Micafungin(DB01141)|S-Adenosylmethionine(DB00118)|Testosterone Propionate(DB01420)|Tolcapone(DB00323)	ACGTGGGCGACAAGAAAGGTG	0.612																																						uc002zqu.2		NA																	0				ovary(1)	1						c.(280-282)GAC>GAT		catechol-O-methyltransferase isoform MB-COMT	Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)						71.0	68.0	69.0					22																	19950331		2203	4300	6503	SO:0001819	synonymous_variant	1312				neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding	g.chr22:19950331C>T		CCDS13770.1, CCDS46663.1	22q11.21	2012-10-02			ENSG00000093010	ENSG00000093010	2.1.1.6		2228	protein-coding gene	gene with protein product		116790				1572656	Standard	NM_000754		Approved		uc002zqu.3	P21964	OTTHUMG00000150529	ENST00000361682.6:c.282C>T	22.37:g.19950331C>T						COMT_uc002zqt.2_Silent_p.D94D|COMT_uc002zqv.2_Silent_p.D94D|COMT_uc002zqw.2_Silent_p.D94D|COMT_uc011ahd.1_Silent_p.D94D|COMT_uc002zqx.2_Silent_p.D94D	p.D94D	NM_000754	NP_000745	P21964	COMT_HUMAN			3	531	+	Colorectal(54;0.0993)		94					A8MPV9|Q6IB07|Q6ICE6|Q9BWC7	Silent	SNP	ENST00000361682.6	37	c.282C>T	CCDS13770.1																																																																																				0.612	COMT-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318936.2	NM_000754		7	35	0	0	0	0	7	35				
HIC2	23119	broad.mit.edu	37	22	21800083	21800083	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr22:21800083G>T	ENST00000443632.2	+	2	1271	c.899G>T	c.(898-900)gGc>gTc	p.G300V	HIC2_ENST00000407598.2_Missense_Mutation_p.G300V|HIC2_ENST00000407464.2_Missense_Mutation_p.G300V			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	300					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GAGCTGGGGGGCACCCCTGAT	0.677																																					NSCLC(23;437 858 2282 27947 40366)	uc002zur.3		NA																	0				skin(1)	1						c.(898-900)GGC>GTC		hypermethylated in cancer 2							28.0	34.0	32.0					22																	21800083		2188	4284	6472	SO:0001583	missense	23119				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding	g.chr22:21800083G>T	AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.899G>T	22.37:g.21800083G>T	ENSP00000387757:p.Gly300Val					HIC2_uc002zus.3_Missense_Mutation_p.G300V	p.G300V	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN			3	1129	+	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)	300					Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Missense_Mutation	SNP	ENST00000443632.2	37	c.899G>T	CCDS13789.1	.	.	.	.	.	.	.	.	.	.	G	9.672	1.146976	0.21288	.	.	ENSG00000169635	ENST00000407464;ENST00000407598;ENST00000443632	T;T;T	0.10382	2.88;2.88;2.88	5.13	2.99	0.34606	.	0.419217	0.27495	N	0.019107	T	0.11239	0.0274	L	0.47716	1.5	0.41232	D	0.986585	P	0.43352	0.804	P	0.44597	0.454	T	0.14337	-1.0476	10	0.30854	T	0.27	.	6.942	0.24498	0.0948:0.1815:0.7238:0.0	.	300	Q96JB3	HIC2_HUMAN	V	300	ENSP00000385319:G300V;ENSP00000384889:G300V;ENSP00000387757:G300V	ENSP00000385319:G300V	G	+	2	0	HIC2	20130083	0.985000	0.35326	0.976000	0.42696	0.950000	0.60333	1.816000	0.38992	0.715000	0.32103	0.561000	0.74099	GGC		0.677	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320061.2			15	41	1	0	8.6e-14	1.66e-13	15	41				
RGL4	266747	broad.mit.edu	37	22	24034239	24034239	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr22:24034239C>G	ENST00000290691.5	+	1	1192	c.22C>G	c.(22-24)Ctg>Gtg	p.L8V	GUSBP11_ENST00000455485.1_RNA|RGL4_ENST00000401461.1_Intron|AP000347.2_ENST00000417194.1_RNA|KB-1572G7.2_ENST00000421064.1_RNA	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	8					small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						GCTCACAAATCTGCCTGCAGC	0.612																																						uc002zxn.2		NA																	0				ovary(1)	1						c.(22-24)CTG>GTG		ral guanine nucleotide dissociation							68.0	65.0	66.0					22																	24034239		2203	4300	6503	SO:0001583	missense	266747				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity	g.chr22:24034239C>G		CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"""RalGDS related oncogene"""	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.22C>G	22.37:g.24034239C>G	ENSP00000290691:p.Leu8Val					LOC91316_uc002zxh.3_RNA|LOC91316_uc002zxi.3_RNA|LOC91316_uc002zxk.3_Intron|LOC91316_uc010gua.2_Intron|LOC91316_uc002zxl.3_Intron|LOC91316_uc011aiz.1_Intron|LOC91316_uc002zxm.3_Intron|RGL4_uc002zxo.2_Missense_Mutation_p.L8V|RGL4_uc002zxp.1_Translation_Start_Site|RGL4_uc002zxq.2_Translation_Start_Site	p.L8V	NM_153615	NP_705843	Q8IZJ4	RGDSR_HUMAN			1	1192	+			8					Q495L8	Missense_Mutation	SNP	ENST00000290691.5	37	c.22C>G	CCDS13811.1	.	.	.	.	.	.	.	.	.	.	c	5.550	0.286430	0.10513	.	.	ENSG00000159496	ENST00000290691;ENST00000382833;ENST00000423392	T;T	0.32272	1.46;1.46	1.77	-3.51	0.04696	.	0.925098	0.08745	U	0.900013	T	0.14184	0.0343	N	0.19112	0.55	0.09310	N	1	B;B	0.31655	0.334;0.334	B;B	0.24006	0.05;0.01	T	0.15492	-1.0435	10	0.87932	D	0	.	2.7377	0.05245	0.2223:0.2736:0.0:0.5041	.	8;8	E9PH87;Q8IZJ4	.;RGDSR_HUMAN	V	8	ENSP00000290691:L8V;ENSP00000402142:L8V	ENSP00000290691:L8V	L	+	1	2	RGL4	22364239	0.731000	0.28111	0.000000	0.03702	0.000000	0.00434	0.935000	0.28924	-1.009000	0.03400	-0.399000	0.06403	CTG		0.612	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319711.1	NM_153615		23	31	0	0	0	0	23	31				
TBC1D5	9779	broad.mit.edu	37	3	17418038	17418038	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr3:17418038G>C	ENST00000253692.7	-	10	2344	c.680C>G	c.(679-681)gCc>gGc	p.A227G	TBC1D5_ENST00000429383.4_Missense_Mutation_p.A227G|TBC1D5_ENST00000429924.2_Missense_Mutation_p.A179G|TBC1D5_ENST00000446818.2_Missense_Mutation_p.A227G|TBC1D5_ENST00000414318.2_Intron	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	227	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AGACTCACTGGCATGTAGAAA	0.403																																						uc003cbf.2		NA																	0				ovary(1)	1						c.(679-681)GCC>GGC		TBC1 domain family, member 5 isoform b							90.0	96.0	94.0					3																	17418038		2203	4300	6503	SO:0001583	missense	9779					intracellular	protein binding|Rab GTPase activator activity	g.chr3:17418038G>C	D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.680C>G	3.37:g.17418038G>C	ENSP00000253692:p.Ala227Gly					TBC1D5_uc010hev.2_Missense_Mutation_p.A227G|TBC1D5_uc003cbe.2_Missense_Mutation_p.A227G|TBC1D5_uc010hew.1_Missense_Mutation_p.A179G	p.A227G	NM_014744	NP_055559	Q92609	TBCD5_HUMAN			10	2345	-			227			Rab-GAP TBC.		A6NP25|C9JP52	Missense_Mutation	SNP	ENST00000253692.7	37	c.680C>G	CCDS33714.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494612	0.85069	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	T;T;T;T	0.50277	1.32;1.32;1.33;0.75	4.97	4.97	0.65823	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.62514	0.2434	L	0.46157	1.445	0.80722	D	1	B;D;D	0.63046	0.153;0.992;0.992	B;D;D	0.69654	0.162;0.952;0.965	T	0.62572	-0.6826	10	0.46703	T	0.11	-8.2109	18.2234	0.89909	0.0:0.0:1.0:0.0	.	179;227;227	C9J3F6;C9JP52;Q92609	.;.;TBCD5_HUMAN	G	227;227;227;179	ENSP00000253692:A227G;ENSP00000398127:A227G;ENSP00000402935:A227G;ENSP00000411925:A179G	ENSP00000253692:A227G	A	-	2	0	TBC1D5	17393042	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.767000	0.98960	2.319000	0.78375	0.585000	0.79938	GCC		0.403	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	NM_014744		19	36	0	0	0	0	19	36				
AZI2	64343	broad.mit.edu	37	3	28365639	28365639	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr3:28365639C>T	ENST00000479665.1	-	8	1604	c.1073G>A	c.(1072-1074)aGt>aAt	p.S358N	CMC1_ENST00000466830.1_3'UTR|AZI2_ENST00000295748.3_5'UTR	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	358					dendritic cell differentiation (GO:0097028)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-alpha production (GO:0032607)|interferon-gamma production (GO:0032609)|interleukin-6 production (GO:0032635)|mitotic cell cycle (GO:0000278)|T cell activation (GO:0042110)|tumor necrosis factor production (GO:0032640)	cytoplasm (GO:0005737)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						TGCTGTCTCACTTGATTTAGG	0.398																																						uc003ceb.2		NA																	0				ovary(2)	2						c.(1072-1074)AGT>AAT		5-azacytidine induced 2 isoform a							157.0	158.0	158.0					3																	28365639		2203	4299	6502	SO:0001583	missense	64343					mitochondrion|plasma membrane		g.chr3:28365639C>T	AC093142	CCDS2647.1, CCDS46782.1, CCDS46783.1	3p23	2006-03-01			ENSG00000163512	ENSG00000163512			24002	protein-coding gene	gene with protein product		609916				10580148	Standard	NM_001134432		Approved	NAP1, FLJ21939, AZ2	uc003ceb.4	Q9H6S1	OTTHUMG00000130573	ENST00000479665.1:c.1073G>A	3.37:g.28365639C>T	ENSP00000419371:p.Ser358Asn					AZI2_uc003cec.2_Missense_Mutation_p.S246N|AZI2_uc003ced.2_3'UTR	p.S358N	NM_022461	NP_071906	Q9H6S1	AZI2_HUMAN			8	1605	-			358					A8K3M2|C9JB40|H7BXU6|Q86W99|Q9BQF1	Missense_Mutation	SNP	ENST00000479665.1	37	c.1073G>A	CCDS2647.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.521373	0.44866	.	.	ENSG00000163512	ENST00000479665	.	.	.	6.17	5.3	0.74995	.	0.074379	0.85682	D	0.000000	T	0.45696	0.1355	L	0.43923	1.385	0.80722	D	1	B	0.17465	0.022	B	0.14578	0.011	T	0.34675	-0.9819	9	0.15952	T	0.53	-4.8905	9.6238	0.39739	0.0:0.7822:0.0:0.2178	.	358	Q9H6S1	AZI2_HUMAN	N	358	.	ENSP00000419371:S358N	S	-	2	0	AZI2	28340643	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.856000	0.39389	1.625000	0.50366	0.655000	0.94253	AGT		0.398	AZI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252998.2	NM_203326		32	43	0	0	0	0	32	43				
SEMA3B	7869	broad.mit.edu	37	3	50313227	50313227	+	RNA	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr3:50313227G>A	ENST00000418948.1	+	0	2031							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CGCTGCAGGCGCGCGTGGAGT	0.692																																						uc003cyu.2		NA																	0				lung(2)|central_nervous_system(2)|kidney(1)|skin(1)	6						c.(1795-1797)GCG>GCA		semaphorin 3B isoform 1 precursor							23.0	26.0	25.0					3																	50313227		1981	4152	6133			7869				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity	g.chr3:50313227G>A	U28369	CCDS74941.1	3p21.3	2013-01-11			ENSG00000012171	ENSG00000012171		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10724	protein-coding gene	gene with protein product		601281		SEMAA		7748561, 8633026	Standard	NM_004636		Approved	SemA, semaV, LUCA-1, sema5	uc003cyu.3	Q13214	OTTHUMG00000156970		3.37:g.50313227G>A						SEMA3B_uc003cyt.2_Silent_p.A598A|SEMA3B_uc003cyv.2_Silent_p.A486A|SEMA3B_uc003cyw.2_Silent_p.A322A|SEMA3B_uc010hli.2_Silent_p.A491A|SEMA3B_uc003cyx.2_Silent_p.A485A|SEMA3B_uc003cyy.2_Silent_p.A256A|SEMA3B_uc011bdo.1_Silent_p.A256A	p.A599A	NM_004636	NP_004627	Q13214	SEM3B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	18	2039	+			599			Ig-like C2-type.		Q6GU46|Q8TB71|Q8TDV7|Q93018|Q96GX0	Silent	SNP	ENST00000418948.1	37	c.1797G>A																																																																																					0.692	SEMA3B-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000346890.2	NM_001005914		13	19	0	0	0	0	13	19				
OR5H14	403273	broad.mit.edu	37	3	97868655	97868655	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr3:97868655C>G	ENST00000437310.1	+	1	486	c.426C>G	c.(424-426)atC>atG	p.I142M	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GACTGTGCATCCGGCTATTAA	0.393																																						uc003dsg.1		NA																	0				skin(1)	1						c.(424-426)ATC>ATG		olfactory receptor, family 5, subfamily H,							117.0	120.0	119.0					3																	97868655		2202	4299	6501	SO:0001583	missense	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868655C>G		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.426C>G	3.37:g.97868655C>G	ENSP00000401706:p.Ile142Met						p.I142M	NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN			1	426	+			142			Cytoplasmic (Potential).		B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	c.426C>G	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	C	3.482	-0.105637	0.06924	.	.	ENSG00000236032	ENST00000437310	T	0.38887	1.11	2.49	-1.12	0.09808	GPCR, rhodopsin-like superfamily (1);	1.468830	0.04625	N	0.402561	T	0.32466	0.0830	L	0.41632	1.29	0.09310	N	1	B	0.22604	0.072	B	0.26310	0.068	T	0.24225	-1.0166	10	0.45353	T	0.12	.	2.7688	0.05328	0.2169:0.3623:0.0:0.4208	.	142	A6NHG9	O5H14_HUMAN	M	142	ENSP00000401706:I142M	ENSP00000401706:I142M	I	+	3	3	OR5H14	99351345	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-4.751000	0.00190	-0.460000	0.07003	-1.098000	0.02139	ATC		0.393	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			16	162	0	0	0	0	16	162				
ABI3BP	25890	broad.mit.edu	37	3	100493490	100493490	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr3:100493490G>T	ENST00000284322.5	-	28	2466	c.2357C>A	c.(2356-2358)cCa>cAa	p.P786Q	ABI3BP_ENST00000471714.1_Missense_Mutation_p.P1488Q|ABI3BP_ENST00000383691.4_Missense_Mutation_p.P740Q	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	786					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TTCTCTTGTTGGGCTTGAGCT	0.353																																						uc003dun.2		NA																	0				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						c.(2356-2358)CCA>CAA		ABI gene family, member 3 (NESH) binding protein							65.0	59.0	61.0					3																	100493490		1823	4083	5906	SO:0001583	missense	25890					extracellular space		g.chr3:100493490G>T	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.2357C>A	3.37:g.100493490G>T	ENSP00000284322:p.Pro786Gln					ABI3BP_uc003duj.2_Missense_Mutation_p.P366Q|ABI3BP_uc003duk.2_Missense_Mutation_p.P495Q|ABI3BP_uc003dul.2_Missense_Mutation_p.P616Q|ABI3BP_uc011bhd.1_Missense_Mutation_p.P740Q|ABI3BP_uc003dum.2_Missense_Mutation_p.P197Q	p.P786Q	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN			28	2442	-			786					B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.2357C>A	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.398980|4.398980	0.83120|0.83120	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691;ENST00000486770|ENST00000495591	T;T;T|.	0.36340|.	1.57;1.26;1.4|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74023|0.74023	0.3662|0.3662	M|M	0.63843|0.63843	1.955|1.955	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.999;0.999;0.999;0.999|.	T|T	0.71434|0.71434	-0.4594|-0.4594	10|5	0.87932|.	D|.	0|.	-13.2592|-13.2592	19.0972|19.0972	0.93257|0.93257	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	740;786;1488;495|.	B4DSV9;Q7Z7G0;D3YTG3;D3YTD6|.	.;TARSH_HUMAN;.;.|.	Q|K	1488;786;495;197;740;198|842	ENSP00000420524:P1488Q;ENSP00000284322:P786Q;ENSP00000373189:P740Q|.	ENSP00000284322:P786Q|.	P|Q	-|-	2|1	0|0	ABI3BP|ABI3BP	101976180|101976180	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.974000|0.974000	0.67602|0.67602	6.080000|6.080000	0.71299|0.71299	2.607000|2.607000	0.88179|0.88179	0.460000|0.460000	0.39030|0.39030	CCA|CAA		0.353	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			3	8	1	0	0.004672	0.0082471	3	8				
ILDR1	286676	broad.mit.edu	37	3	121712107	121712107	+	Missense_Mutation	SNP	G	G	A	rs371286984		TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr3:121712107G>A	ENST00000344209.5	-	7	1615	c.1489C>T	c.(1489-1491)Cgc>Tgc	p.R497C	ILDR1_ENST00000462014.1_Missense_Mutation_p.R465C|ILDR1_ENST00000273691.3_Missense_Mutation_p.R453C|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000393631.1_Missense_Mutation_p.R408C	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	497					positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TGCGAGCCGCGGCGGTGGGCC	0.632																																						uc003ees.2		NA																	0				skin(1)	1						c.(1489-1491)CGC>TGC		immunoglobulin-like domain containing receptor		G	CYS/ARG,CYS/ARG,CYS/ARG	2,4400		0,2,2199	19.0	22.0	21.0		1489,1222,1357	3.3	0.0	3		21	0,8594		0,0,4297	no	missense,missense,missense	ILDR1	NM_001199799.1,NM_001199800.1,NM_175924.3	180,180,180	0,2,6496	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging	497/547,408/458,453/503	121712107	2,12994	2201	4297	6498	SO:0001583	missense	286676					cytosol|integral to membrane|plasma membrane	receptor activity	g.chr3:121712107G>A	BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"""deafness, autosomal recessive 42"""	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.1489C>T	3.37:g.121712107G>A	ENSP00000345667:p.Arg497Cys					ILDR1_uc003eeq.2_Missense_Mutation_p.R465C|ILDR1_uc003eer.2_Missense_Mutation_p.R453C|ILDR1_uc010hrg.2_Missense_Mutation_p.R408C	p.R497C	NM_175924	NP_787120	Q86SU0	ILDR1_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	7	1595	-			497			Cytoplasmic (Potential).		Q6ZP61|Q7Z578	Missense_Mutation	SNP	ENST00000344209.5	37	c.1489C>T	CCDS56271.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239960	0.22711	4.54E-4	0.0	ENSG00000145103	ENST00000273691;ENST00000344209;ENST00000393631;ENST00000462014	T;T;T;T	0.80393	-0.71;-0.71;-1.37;-0.31	5.14	3.27	0.37495	.	0.939996	0.08897	N	0.877771	D	0.86598	0.5971	M	0.64997	1.995	0.19575	N	0.999964	D;D;D;D	0.76494	0.987;0.988;0.993;0.999	B;B;P;D	0.67548	0.431;0.353;0.555;0.952	T	0.71590	-0.4547	10	0.72032	D	0.01	-0.9559	8.1049	0.30879	0.0:0.1743:0.6448:0.1808	.	408;497;453;465	Q86SU0-5;Q86SU0;Q86SU0-2;Q86SU0-6	.;ILDR1_HUMAN;.;.	C	453;497;408;465	ENSP00000273691:R453C;ENSP00000345667:R497C;ENSP00000377251:R408C;ENSP00000419414:R465C	ENSP00000273691:R453C	R	-	1	0	ILDR1	123194797	0.059000	0.20769	0.002000	0.10522	0.033000	0.12548	1.367000	0.34204	0.681000	0.31386	0.563000	0.77884	CGC		0.632	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355666.1	NM_175924		10	27	0	0	0	0	10	27				
SHOX2	6474	broad.mit.edu	37	3	157815817	157815817	+	Silent	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr3:157815817C>T	ENST00000425436.3	-	5	1020	c.995G>A	c.(994-996)tGa>tAa	p.*332*	SHOX2_ENST00000441443.2_Silent_p.*191*|SHOX2_ENST00000389589.4_Silent_p.*356*|SHOX2_ENST00000490689.2_Silent_p.*191*|SHOX2_ENST00000483851.2_Silent_p.*320*	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2	0					cardiac atrium morphogenesis (GO:0003209)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte development (GO:0002063)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|heart development (GO:0007507)|heart valve development (GO:0003170)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of axonogenesis (GO:0050772)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of chondrocyte differentiation (GO:0032330)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.*356L(1)|p.*191L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GCGTTGGCGTCACAGACCCAG	0.657																																						uc003fbr.2		NA																	2	Nonstop extension(2)		lung(2)		0						c.(994-996)TGA>TAA		short stature homeobox 2 isoform a							158.0	173.0	168.0					3																	157815817		2203	4300	6503	SO:0001819	synonymous_variant	6474				nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:157815817C>T	AJ002368	CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1	3q25.32	2011-06-20			ENSG00000168779	ENSG00000168779		"""Homeoboxes / PRD class"""	10854	protein-coding gene	gene with protein product		602504				9482898, 9466998	Standard	NM_006884		Approved	SHOT, OG12X, OG12	uc003fbs.3	O60902	OTTHUMG00000158755	ENST00000425436.3:c.995G>A	3.37:g.157815817C>T						SHOX2_uc003fbs.2_Silent_p.*356*|SHOX2_uc010hvw.2_Silent_p.*320*	p.*332*	NM_006884	NP_006875	O60902	SHOX2_HUMAN	Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)		5	1134	-			332					O60465|O60467|O60903	Silent	SNP	ENST00000425436.3	37	c.995G>A	CCDS43164.1																																																																																				0.657	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352057.2			141	470	0	0	0	0	141	470				
NLGN1	22871	broad.mit.edu	37	3	173996813	173996813	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr3:173996813A>T	ENST00000457714.1	+	6	1451	c.1022A>T	c.(1021-1023)gAa>gTa	p.E341V	NLGN1_ENST00000361589.4_Missense_Mutation_p.E341V|NLGN1_ENST00000401917.3_Missense_Mutation_p.E381V|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000545397.1_Missense_Mutation_p.E341V	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	358					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CCTTACAAAGAACTTGTTGAC	0.423																																						uc003fio.1		NA																	0				lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(1021-1023)GAA>GTA		neuroligin 1							208.0	187.0	194.0					3																	173996813		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173996813A>T	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1022A>T	3.37:g.173996813A>T	ENSP00000392500:p.Glu341Val					NLGN1_uc010hww.1_Missense_Mutation_p.E381V|NLGN1_uc003fip.1_Missense_Mutation_p.E341V	p.E341V	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		6	1445	+	Ovarian(172;0.0025)		358			Extracellular (Potential).		Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.1022A>T	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.297255	0.81025	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.73682	0.3618	L	0.60957	1.885	0.80722	D	1	P;P	0.51057	0.941;0.679	P;B	0.59221	0.854;0.326	T	0.75679	-0.3234	10	0.62326	D	0.03	.	16.0817	0.81010	1.0:0.0:0.0:0.0	.	381;341	D2X2H5;Q8N2Q7-2	.;.	V	341;341;341;381	ENSP00000392500:E341V;ENSP00000354541:E341V;ENSP00000441108:E341V;ENSP00000385750:E381V	ENSP00000354541:E341V	E	+	2	0	NLGN1	175479507	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.206000	0.71126	0.383000	0.25322	GAA		0.423	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		43	123	0	0	0	0	43	123				
ATP13A3	79572	broad.mit.edu	37	3	194152587	194152587	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr3:194152587T>A	ENST00000439040.1	-	22	3071	c.2280A>T	c.(2278-2280)agA>agT	p.R760S	ATP13A3_ENST00000256031.4_Missense_Mutation_p.R760S			Q9H7F0	AT133_HUMAN	ATPase type 13A3	760						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TTCCACAATCTCTGGCCACAG	0.353																																						uc003fty.3		NA																	0				ovary(1)	1						c.(2278-2280)AGA>AGT		ATPase type 13A3							82.0	73.0	76.0					3																	194152587		1890	4123	6013	SO:0001583	missense	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194152587T>A	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.2280A>T	3.37:g.194152587T>A	ENSP00000416508:p.Arg760Ser					ATP13A3_uc003ftz.1_Missense_Mutation_p.R466S	p.R760S	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	21	2682	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	760					Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	c.2280A>T	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.041100	0.75732	.	.	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000310773	T;T	0.59083	0.29;0.29	5.71	5.71	0.89125	HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.69869	0.3159	L	0.55213	1.73	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.72707	-0.4212	10	0.87932	D	0	0.0454	11.0875	0.48095	0.0:0.0718:0.0:0.9281	.	760	Q9H7F0	AT133_HUMAN	S	760;760;498	ENSP00000416508:R760S;ENSP00000256031:R760S	ENSP00000256031:R760S	R	-	3	2	ATP13A3	195633876	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.159000	0.31749	2.180000	0.69256	0.455000	0.32223	AGA		0.353	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		10	44	0	0	0	0	10	44				
DLG1	1739	broad.mit.edu	37	3	197009585	197009585	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr3:197009585C>G	ENST00000419354.1	-	4	569	c.283G>C	c.(283-285)Gag>Cag	p.E95Q	DLG1_ENST00000450955.1_Missense_Mutation_p.E95Q|DLG1_ENST00000485409.1_5'UTR|DLG1_ENST00000314062.3_Missense_Mutation_p.E95Q|DLG1_ENST00000422288.1_Missense_Mutation_p.E95Q|DLG1_ENST00000346964.2_Missense_Mutation_p.E95Q|DLG1_ENST00000448528.2_Missense_Mutation_p.E95Q|DLG1_ENST00000392382.2_Missense_Mutation_p.E95Q|DLG1_ENST00000357674.4_Missense_Mutation_p.E95Q			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	95					actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GGCAGTGTCTCTGAAGTCACA	0.398																																						uc003fxo.3		NA																	0				ovary(3)	3						c.(283-285)GAG>CAG		discs, large homolog 1 isoform 1							124.0	119.0	121.0					3																	197009585		2203	4300	6503	SO:0001583	missense	1739				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding	g.chr3:197009585C>G	U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.283G>C	3.37:g.197009585C>G	ENSP00000407531:p.Glu95Gln					DLG1_uc011bud.1_5'UTR|DLG1_uc003fxn.3_Missense_Mutation_p.E95Q|DLG1_uc011bue.1_Missense_Mutation_p.E95Q|DLG1_uc010ial.2_Missense_Mutation_p.E95Q|DLG1_uc011buf.1_RNA|DLG1_uc003fxp.2_RNA|DLG1_uc010iam.1_Missense_Mutation_p.E95Q	p.E95Q	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)	4	473	-	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	95					A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	ENST00000419354.1	37	c.283G>C	CCDS43194.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.809635	0.50421	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000422288;ENST00000448528;ENST00000392382;ENST00000450955;ENST00000456699;ENST00000392380;ENST00000419553;ENST00000436682;ENST00000412364	T;T;T;T;T;T;T;T;T;T;T	0.45276	2.64;2.59;2.54;2.63;2.54;2.63;2.59;2.59;0.91;0.9;0.92	5.74	4.84	0.62591	.	0.491307	0.21818	N	0.068672	T	0.31263	0.0791	N	0.14661	0.345	0.53688	D	0.999971	B;B;B;B	0.27416	0.116;0.178;0.01;0.096	B;B;B;B	0.34138	0.176;0.144;0.004;0.09	T	0.08006	-1.0743	10	0.25106	T	0.35	.	15.6337	0.76933	0.0:0.8623:0.1377:0.0	.	95;95;95;95	Q12959-4;Q12959-3;Q12959;Q12959-2	.;.;DLG1_HUMAN;.	Q	95	ENSP00000345731:E95Q;ENSP00000350303:E95Q;ENSP00000321087:E95Q;ENSP00000407531:E95Q;ENSP00000413238:E95Q;ENSP00000391732:E95Q;ENSP00000376187:E95Q;ENSP00000411278:E95Q;ENSP00000396474:E95Q;ENSP00000376185:E95Q;ENSP00000414189:E95Q	ENSP00000321087:E95Q	E	-	1	0	DLG1	198493982	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.070000	0.57548	1.368000	0.46115	0.591000	0.81541	GAG		0.398	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087		14	150	0	0	0	0	14	150				
TADA2B	93624	broad.mit.edu	37	4	7056447	7056447	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr4:7056447C>T	ENST00000310074.7	+	2	1118	c.929C>T	c.(928-930)gCa>gTa	p.A310V	TADA2B_ENST00000515646.1_Missense_Mutation_p.A218V|TADA2B_ENST00000512388.1_Missense_Mutation_p.A235V	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	310					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						GAGTACGAGGCAGCGCGGCAT	0.557																																						uc003gjw.3		NA																	0					0						c.(928-930)GCA>GTA		transcriptional adaptor 2 (ADA2 homolog,							53.0	63.0	60.0					4																	7056447		2043	4180	6223	SO:0001583	missense	93624				regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr4:7056447C>T	AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.929C>T	4.37:g.7056447C>T	ENSP00000308022:p.Ala310Val					TADA2B_uc010idi.2_Missense_Mutation_p.A235V	p.A310V	NM_152293	NP_689506	Q86TJ2	TAD2B_HUMAN			2	1080	+			310					A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Missense_Mutation	SNP	ENST00000310074.7	37	c.929C>T	CCDS47007.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513938	0.64522	.	.	ENSG00000173011	ENST00000310074;ENST00000512388;ENST00000515646	T;T;T	0.43294	0.95;0.95;0.95	4.96	4.96	0.65561	.	.	.	.	.	T	0.41305	0.1153	L	0.38838	1.175	0.80722	D	1	P;P	0.43094	0.799;0.698	B;B	0.44315	0.446;0.346	T	0.19811	-1.0294	9	0.33940	T	0.23	-34.0528	18.2471	0.89989	0.0:1.0:0.0:0.0	.	235;310	Q86TJ2-2;Q86TJ2	.;TAD2B_HUMAN	V	310;235;218	ENSP00000308022:A310V;ENSP00000423947:A235V;ENSP00000423181:A218V	ENSP00000308022:A310V	A	+	2	0	TADA2B	7107348	1.000000	0.71417	0.936000	0.37596	0.823000	0.46562	5.439000	0.66556	2.307000	0.77673	0.561000	0.74099	GCA		0.557	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358687.2	NM_152293		28	36	0	0	0	0	28	36				
POU4F2	5458	broad.mit.edu	37	4	147560567	147560567	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr4:147560567T>A	ENST00000281321.3	+	1	523	c.275T>A	c.(274-276)cTt>cAt	p.L92H	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	92					axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					AGAGCCTGTCTTCCAACCCCA	0.622																																						uc003ikv.2		NA																	0				breast(1)	1						c.(274-276)CTT>CAT		Brn3b POU domain transcription factor							36.0	41.0	39.0					4																	147560567		2201	4300	6501	SO:0001583	missense	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147560567T>A	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.275T>A	4.37:g.147560567T>A	ENSP00000281321:p.Leu92His						p.L92H	NM_004575	NP_004566	Q12837	PO4F2_HUMAN			1	523	+	all_hematologic(180;0.151)		92					B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	ENST00000281321.3	37	c.275T>A	CCDS34074.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.572409	0.86542	.	.	ENSG00000151615	ENST00000281321	T	0.27402	1.67	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.49184	0.1542	L	0.49778	1.585	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.50110	-0.8866	10	0.87932	D	0	.	13.7265	0.62761	0.0:0.0:0.0:1.0	.	92	Q12837	PO4F2_HUMAN	H	92	ENSP00000281321:L92H	ENSP00000281321:L92H	L	+	2	0	POU4F2	147780017	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.915000	0.69973	2.120000	0.65058	0.459000	0.35465	CTT		0.622	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		14	22	0	0	0	0	14	22				
TMEM192	201931	broad.mit.edu	37	4	166000814	166000814	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr4:166000814G>C	ENST00000306480.6	-	6	957	c.812C>G	c.(811-813)aCg>aGg	p.T271R	TMEM192_ENST00000506087.1_Missense_Mutation_p.T267R	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN	transmembrane protein 192	271						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		AGCCTCTCACGTTCTACTTGG	0.527																																						uc003iqz.3		NA																	0				skin(1)	1						c.(811-813)ACG>AGG		transmembrane protein 192							87.0	83.0	85.0					4																	166000814		1974	4161	6135	SO:0001583	missense	201931					Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus		g.chr4:166000814G>C	BC036301	CCDS43279.1	4q32.3	2008-04-22			ENSG00000170088	ENSG00000170088			26775	protein-coding gene	gene with protein product						12477932	Standard	NM_001100389		Approved	FLJ38482	uc003iqz.4	Q8IY95	OTTHUMG00000161254	ENST00000306480.6:c.812C>G	4.37:g.166000814G>C	ENSP00000305069:p.Thr271Arg						p.T271R	NM_001100389	NP_001093859	Q8IY95	TM192_HUMAN		GBM - Glioblastoma multiforme(119;0.0926)	6	911	-	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	271			Cytoplasmic (Potential).		Q7Z3A1|Q8N928	Missense_Mutation	SNP	ENST00000306480.6	37	c.812C>G	CCDS43279.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.263708	0.39995	.	.	ENSG00000170088	ENST00000306480;ENST00000506087	.	.	.	5.97	1.01	0.19927	.	0.754074	0.12499	N	0.463515	T	0.19366	0.0465	N	0.19112	0.55	0.09310	N	1	B	0.28128	0.201	B	0.22880	0.042	T	0.18398	-1.0338	9	0.72032	D	0.01	-18.3973	3.7204	0.08454	0.4894:0.0:0.3257:0.1849	.	271	Q8IY95	TM192_HUMAN	R	271;267	.	ENSP00000305069:T271R	T	-	2	0	TMEM192	166220264	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.669000	0.05262	0.287000	0.22375	0.591000	0.81541	ACG		0.527	TMEM192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364310.3	NM_152681		6	17	0	0	0	0	6	17				
FAT1	2195	broad.mit.edu	37	4	187627774	187627774	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr4:187627774G>A	ENST00000441802.2	-	2	3417	c.3208C>T	c.(3208-3210)Cga>Tga	p.R1070*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1070	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGGAGTATCGGATCTCCCCA	0.443										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(3208-3210)CGA>TGA		FAT tumor suppressor 1 precursor							151.0	150.0	150.0					4																	187627774		1988	4158	6146	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.chr4:187627774G>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.3208C>T	4.37:g.187627774G>A	ENSP00000406229:p.Arg1070*	HNSCC(5;0.00058)				FAT1_uc010iso.1_Nonsense_Mutation_p.R1070*	p.R1070*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			2	3396	-			1070			Extracellular (Potential).|Cadherin 9.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.3208C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	43	10.074726	0.99331	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	4.6	4.6	0.57074	.	0.221339	0.39020	N	0.001483	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	12.5303	0.56111	0.0:0.0:0.7903:0.2097	.	.	.	.	X	1070	.	ENSP00000260147:R1070X	R	-	1	2	FAT1	187864768	1.000000	0.71417	0.958000	0.39756	0.566000	0.35808	5.222000	0.65277	2.386000	0.81285	0.591000	0.81541	CGA		0.443	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		49	70	0	0	0	0	49	70				
DNAH5	1767	broad.mit.edu	37	5	13719088	13719088	+	Silent	SNP	A	A	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr5:13719088A>G	ENST00000265104.4	-	72	12506	c.12402T>C	c.(12400-12402)gcT>gcC	p.A4134A		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4134	AAA 6. {ECO:0000250}.		A -> V (in dbSNP:rs30168). {ECO:0000269|PubMed:10997877}.		cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACTGCTTATGAGCCTCGGTGG	0.468									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(12400-12402)GCT>GCC		dynein, axonemal, heavy chain 5							147.0	144.0	145.0					5																	13719088		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13719088A>G	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.12402T>C	5.37:g.13719088A>G						DNAH5_uc003jfc.2_Silent_p.A302A	p.A4134A	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			72	12444	-	Lung NSC(4;0.00476)		4134			AAA 6 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.12402T>C	CCDS3882.1																																																																																				0.468	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		25	115	0	0	0	0	25	115				
TRIO	7204	broad.mit.edu	37	5	14387624	14387624	+	Silent	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr5:14387624G>A	ENST00000344204.4	+	22	3672	c.3648G>A	c.(3646-3648)gaG>gaA	p.E1216E	TRIO_ENST00000537187.1_Silent_p.E1216E|TRIO_ENST00000509967.2_Silent_p.E1167E	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1216					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ATGCGGCAGAGATAAAAAAAT	0.438																																						uc003jff.2		NA																	0				skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(3646-3648)GAG>GAA		triple functional domain (PTPRF interacting)							118.0	130.0	126.0					5																	14387624		2203	4300	6503	SO:0001819	synonymous_variant	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14387624G>A	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.3648G>A	5.37:g.14387624G>A						TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Silent_p.E1167E|TRIO_uc003jfh.1_Silent_p.E865E	p.E1216E	NM_007118	NP_009049	O75962	TRIO_HUMAN			22	3654	+	Lung NSC(4;0.000742)		1216			Spectrin 4.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	c.3648G>A	CCDS3883.1																																																																																				0.438	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		5	137	0	0	0	0	5	137				
LMBRD2	92255	broad.mit.edu	37	5	36124341	36124341	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr5:36124341G>C	ENST00000296603.4	-	7	1236	c.774C>G	c.(772-774)atC>atG	p.I258M		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	258						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GATTATACTTGATGCTTTCAT	0.269																																						uc003jkb.1		NA																	0					0						c.(772-774)ATC>ATG		LMBR1 domain containing 2							58.0	55.0	56.0					5																	36124341		2194	4282	6476	SO:0001583	missense	92255					integral to membrane		g.chr5:36124341G>C		CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.774C>G	5.37:g.36124341G>C	ENSP00000296603:p.Ile258Met						p.I258M	NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1189	-	all_lung(31;0.000146)		258			Cytoplasmic (Potential).|Potential.		B3KRB6|Q9NTC7	Missense_Mutation	SNP	ENST00000296603.4	37	c.774C>G	CCDS34145.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140470	0.56936	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	T	0.31769	1.48	5.61	3.65	0.41850	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.41096	0.1144	L	0.50919	1.6	0.51482	D	0.999929	D	0.64830	0.994	D	0.64410	0.925	T	0.14783	-1.0460	10	0.23891	T	0.37	-12.0912	8.3836	0.32486	0.1444:0.0:0.7189:0.1366	.	258	Q68DH5	LMBD2_HUMAN	M	258;152	ENSP00000296603:I258M	ENSP00000296603:I258M	I	-	3	3	LMBRD2	36160098	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.377000	0.34317	1.381000	0.46364	-0.225000	0.12378	ATC		0.269	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527		5	30	0	0	0	0	5	30				
NIPBL	25836	broad.mit.edu	37	5	37057315	37057315	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr5:37057315A>G	ENST00000282516.8	+	43	7790	c.7291A>G	c.(7291-7293)Ata>Gta	p.I2431V	NIPBL_ENST00000448238.2_Missense_Mutation_p.I2431V	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2431					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GCTCTTGTATATAGCAGACAA	0.358																																						uc003jkl.3		NA																	0				ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9						c.(7291-7293)ATA>GTA		delangin isoform A							90.0	83.0	85.0					5																	37057315		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37057315A>G	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.7291A>G	5.37:g.37057315A>G	ENSP00000282516:p.Ile2431Val					NIPBL_uc003jkk.3_Missense_Mutation_p.I2431V|NIPBL_uc003jkn.2_Missense_Mutation_p.I124V	p.I2431V	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		43	7790	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2431					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.7291A>G	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	A	12.15	1.851922	0.32699	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.95272	-3.66;-3.66	5.82	5.82	0.92795	.	0.043376	0.85682	D	0.000000	D	0.90024	0.6885	N	0.08118	0	0.53688	D	0.999974	B;B;B	0.24317	0.101;0.101;0.082	B;B;B	0.40329	0.326;0.326;0.219	D	0.85743	0.1338	10	0.11182	T	0.66	-17.7104	16.1986	0.82053	1.0:0.0:0.0:0.0	.	2431;2431;2431	Q6IEH8;Q6KC79;Q6KC79-2	.;NIPBL_HUMAN;.	V	2431	ENSP00000282516:I2431V;ENSP00000406266:I2431V	ENSP00000282516:I2431V	I	+	1	0	NIPBL	37093072	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.198000	0.58419	2.227000	0.72691	0.455000	0.32223	ATA		0.358	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		13	49	0	0	0	0	13	49				
ADAMTS6	11174	broad.mit.edu	37	5	64521916	64521916	+	IGR	SNP	G	G	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr5:64521916G>T								ADAMTS6 (27324 upstream) : ADAMTS6 (71118 downstream)																							GAGCAACCTTGCATTCTCCAT	0.373																																						uc003jtp.2		NA																	0					0						c.(2062-2064)TGC>TGA		ADAM metallopeptidase with thrombospondin type 1							81.0	77.0	78.0					5																	64521916		2203	4300	6503	SO:0001628	intergenic_variant	11174				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:64521916G>T																													5.37:g.64521916G>T						ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Nonsense_Mutation_p.C309*	p.C688*	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	16	2878	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	688						Nonsense_Mutation	SNP		37	c.2064C>A		.	.	.	.	.	.	.	.	.	.	G	38	6.662933	0.97743	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680	.	.	.	5.4	5.4	0.78164	.	0.122847	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.1683	0.93565	0.0:0.0:1.0:0.0	.	.	.	.	X	688;638;688	.	ENSP00000261306:C638X	C	-	3	2	ADAMTS6	64557672	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.813000	0.69201	2.493000	0.84123	0.650000	0.86243	TGC	0	0.373									14	14	1	0	9.05e-12	1.74e-11	14	14				
COL4A3BP	10087	broad.mit.edu	37	5	74696051	74696051	+	Silent	SNP	C	C	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr5:74696051C>G	ENST00000405807.4	-	10	1510	c.1089G>C	c.(1087-1089)ggG>ggC	p.G363G	COL4A3BP_ENST00000380494.5_Silent_p.G491G|COL4A3BP_ENST00000261415.7_Silent_p.G363G	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	363					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		ATCTATGTGTCCCCACAGAAG	0.363																																						uc011csu.1		NA																	0				skin(1)	1						c.(1087-1089)GGG>GGC		alpha 3 type IV collagen binding protein isoform							103.0	99.0	100.0					5																	74696051		2203	4300	6503	SO:0001819	synonymous_variant	10087				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity	g.chr5:74696051C>G	AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"""StAR-related lipid transfer (START) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2205	protein-coding gene	gene with protein product	"""ceramide transporter"", ""StAR-related lipid transfer (START) domain containing 11"""	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.1089G>C	5.37:g.74696051C>G						COL4A3BP_uc003kds.2_Silent_p.G363G|COL4A3BP_uc003kdt.2_Silent_p.G491G|COL4A3BP_uc003kdu.2_Silent_p.G363G	p.G363G	NM_005713	NP_005704	Q9Y5P4	C43BP_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1e-53)	10	1511	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	363					A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Silent	SNP	ENST00000405807.4	37	c.1089G>C	CCDS4028.1																																																																																				0.363	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2	NM_005713		7	10	0	0	0	0	7	10				
PCDHA13	56136	broad.mit.edu	37	5	140263365	140263365	+	Silent	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr5:140263365G>A	ENST00000289272.2	+	1	1512	c.1512G>A	c.(1510-1512)ctG>ctA	p.L504L	PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.L504L|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	504	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGTGCGCTGTCGAGCTACG	0.672																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1510-1512)CTG>CTA		protocadherin alpha 13 isoform 1 precursor							64.0	65.0	64.0					5																	140263365		2203	4299	6502	SO:0001819	synonymous_variant	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140263365G>A	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1512G>A	5.37:g.140263365G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.L504L|PCDHA13_uc003lid.2_Silent_p.L504L	p.L504L	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1512	+			504			Cadherin 5.|Extracellular (Potential).		O75277	Silent	SNP	ENST00000289272.2	37	c.1512G>A	CCDS4240.1																																																																																				0.672	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		37	61	0	0	0	0	37	61				
FCHSD1	89848	broad.mit.edu	37	5	141026991	141026991	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr5:141026991G>A	ENST00000435817.2	-	9	852	c.802C>T	c.(802-804)Cac>Tac	p.H268Y	FCHSD1_ENST00000522783.1_Missense_Mutation_p.H266Y|FCHSD1_ENST00000522126.1_Missense_Mutation_p.H192Y|FCHSD1_ENST00000523856.1_5'UTR	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	268									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCCGCGGTGGGCATGCTCC	0.622																																						uc003llk.2		NA																FCHSD1/BRAF(2)	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(802-804)CAC>TAC		FCH and double SH3 domains 1							27.0	30.0	29.0					5																	141026991		1927	4133	6060	SO:0001583	missense	89848							g.chr5:141026991G>A	AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.802C>T	5.37:g.141026991G>A	ENSP00000399259:p.His268Tyr					FCHSD1_uc010jgg.2_5'UTR|FCHSD1_uc003llj.2_RNA	p.H268Y	NM_033449	NP_258260	Q86WN1	FCSD1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		9	853	-			268					Q6UX75|Q86Y77|Q9NXX8	Missense_Mutation	SNP	ENST00000435817.2	37	c.802C>T	CCDS47295.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560653	0.45590	.	.	ENSG00000197948	ENST00000435817;ENST00000522126;ENST00000522783	T;T;T	0.14022	2.54;2.54;2.54	5.48	5.48	0.80851	.	0.475945	0.22360	N	0.061089	T	0.09555	0.0235	N	0.08118	0	0.80722	D	1	B	0.24186	0.099	B	0.26614	0.071	T	0.24012	-1.0172	10	0.54805	T	0.06	-15.9791	16.0566	0.80812	0.0:0.0:1.0:0.0	.	268	Q86WN1	FCSD1_HUMAN	Y	268;192;266	ENSP00000399259:H268Y;ENSP00000427796:H192Y;ENSP00000428677:H266Y	ENSP00000399259:H268Y	H	-	1	0	FCHSD1	141007175	1.000000	0.71417	0.994000	0.49952	0.417000	0.31264	5.025000	0.64097	2.578000	0.87016	0.455000	0.32223	CAC		0.622	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375282.2	NM_033449		9	10	0	0	0	0	9	10				
HLA-DOA	3111	broad.mit.edu	37	6	32975992	32975992	+	Silent	SNP	G	G	A	rs574592087		TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr6:32975992G>A	ENST00000229829.5	-	2	204	c.129C>T	c.(127-129)ggC>ggT	p.G43G	HLA-DOA_ENST00000495532.1_5'Flank|HLA-DOA_ENST00000450833.2_Silent_p.G13G	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	43	Alpha-1.				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						GGCCCGAGGCGCCGTAAGACT	0.537													g|||	1	0.000199681	0.0	0.0	5008	,	,		18162	0.001		0.0	False		,,,				2504	0.0					uc003ocr.2		NA																	0					0						c.(127-129)GGC>GGT		major histocompatibility complex, class II, DO							49.0	47.0	48.0					6																	32975992		1510	2708	4218	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.chr6:32975992G>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.129C>T	6.37:g.32975992G>A						HLA-DOA_uc010juj.2_Silent_p.G13G|HLA-DOA_uc010jui.2_Silent_p.G43G	p.G43G	NM_002119	NP_002110	P06340	DOA_HUMAN			2	205	-			43			Extracellular (Potential).|Alpha-1.		Q58HU0|Q58HU1|Q5STC7|Q9TQC6|Q9TQC7|Q9TQC8|Q9TQC9|Q9TQD0|Q9TQD1|Q9TQD2|Q9TQD3	Silent	SNP	ENST00000229829.5	37	c.129C>T	CCDS4763.1	.	.	.	.	.	.	.	.	.	.	g	2.610	-0.290960	0.05568	.	.	ENSG00000204252	ENST00000432150	.	.	.	4.4	-8.81	0.00813	.	.	.	.	.	T	0.20210	0.0486	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.49978	-0.8881	5	0.87932	D	0	.	9.9501	0.41634	0.4091:0.1043:0.4866:0.0	.	.	.	.	V	43	.	ENSP00000412819:A43V	A	-	2	0	HLA-DOA	33083970	0.000000	0.05858	0.000000	0.03702	0.315000	0.28087	-2.402000	0.01047	-1.830000	0.01199	-2.655000	0.00148	GCG		0.537	HLA-DOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076426.2	NM_002119		14	47	0	0	0	0	14	47				
ZNF318	24149	broad.mit.edu	37	6	43322436	43322436	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr6:43322436G>A	ENST00000361428.2	-	4	2713	c.2636C>T	c.(2635-2637)tCt>tTt	p.S879F	ZNF318_ENST00000318149.3_Missense_Mutation_p.S879F	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	879					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTTCTCATCAGAGATCTTCTC	0.438																																						uc003oux.2		NA																	0				ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7						c.(2635-2637)TCT>TTT		zinc finger protein 318							103.0	106.0	105.0					6																	43322436		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43322436G>A	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.2636C>T	6.37:g.43322436G>A	ENSP00000354964:p.Ser879Phe					ZNF318_uc003ouw.2_RNA	p.S879F	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		4	2714	-			879			Potential.		O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.2636C>T	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085742	0.55861	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.37058	1.22;2.46	5.65	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.36082	0.0954	L	0.29908	0.895	0.36594	D	0.874266	D	0.89917	1.0	D	0.87578	0.998	T	0.42565	-0.9444	10	0.72032	D	0.01	-5.2599	12.9689	0.58501	0.0746:0.0:0.9254:0.0	.	879	Q5VUA4	ZN318_HUMAN	F	879	ENSP00000323032:S879F;ENSP00000354964:S879F	ENSP00000323032:S879F	S	-	2	0	ZNF318	43430414	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.231000	0.65327	1.411000	0.46957	0.655000	0.94253	TCT		0.438	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		24	43	0	0	0	0	24	43				
POLH	5429	broad.mit.edu	37	6	43582058	43582058	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr6:43582058G>A	ENST00000372236.4	+	11	2201	c.1906G>A	c.(1906-1908)Gag>Aag	p.E636K	POLH_ENST00000535400.1_Missense_Mutation_p.E574K|POLH_ENST00000372226.1_3'UTR	NM_006502.2	NP_006493.1	O75417	DPOLQ_HUMAN	polymerase (DNA directed), eta	1221					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			AGTGCCCTGTGAGAAGTGTGG	0.502								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum																													uc003ovq.3		NA																	0				breast(2)	2						c.(1906-1908)GAG>AAG	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase eta							126.0	129.0	128.0					6																	43582058		2203	4300	6503	SO:0001583	missense	5429	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr6:43582058G>A	AB024313	CCDS4902.1	6p21	2014-09-17			ENSG00000170734	ENSG00000170734			9181	protein-coding gene	gene with protein product		603968				10385124, 10398605	Standard	NM_006502		Approved	RAD30A, XP-V	uc003ovq.4	Q9Y253	OTTHUMG00000014743	ENST00000372236.4:c.1906G>A	6.37:g.43582058G>A	ENSP00000361310:p.Glu636Lys					POLH_uc010jyu.2_Missense_Mutation_p.E512K|POLH_uc011dvl.1_RNA|POLH_uc003ovr.3_Missense_Mutation_p.E537K	p.E636K	NM_006502	NP_006493	Q9Y253	POLH_HUMAN	all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)		11	2210	+	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		636					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000372236.4	37	c.1906G>A	CCDS4902.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.576214	0.86645	.	.	ENSG00000170734	ENST00000372236;ENST00000535400	T;T	0.62788	0.13;0.0	5.58	5.58	0.84498	.	0.147143	0.64402	D	0.000010	T	0.64638	0.2616	M	0.77103	2.36	0.80722	D	1	D;D	0.59767	0.986;0.974	P;P	0.47981	0.563;0.563	T	0.70260	-0.4921	10	0.59425	D	0.04	-27.539	18.1114	0.89537	0.0:0.0:1.0:0.0	.	574;636	B4DG64;Q9Y253	.;POLH_HUMAN	K	636;574	ENSP00000361310:E636K;ENSP00000442102:E574K	ENSP00000361310:E636K	E	+	1	0	POLH	43690036	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.194000	0.94962	2.778000	0.95560	0.655000	0.94253	GAG		0.502	POLH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040666.1	NM_006502		32	136	0	0	0	0	32	136				
PGK2	5232	broad.mit.edu	37	6	49754449	49754449	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr6:49754449C>T	ENST00000304801.3	-	1	604	c.452G>A	c.(451-453)cGa>cAa	p.R151Q		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	151					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AAGTGATGCTCGGAAGGCTTC	0.498																																						uc003ozu.2		NA																	0				ovary(1)	1						c.(451-453)CGA>CAA		phosphoglycerate kinase 2							104.0	102.0	103.0					6																	49754449		2203	4300	6503	SO:0001583	missense	5232				glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chr6:49754449C>T	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.452G>A	6.37:g.49754449C>T	ENSP00000305995:p.Arg151Gln						p.R151Q	NM_138733	NP_620061	P07205	PGK2_HUMAN			1	559	-	Lung NSC(77;0.0402)		151					B2R6Y8|Q9H107	Missense_Mutation	SNP	ENST00000304801.3	37	c.452G>A	CCDS4930.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503626	0.44558	.	.	ENSG00000170950	ENST00000304801	D	0.91894	-2.93	4.09	4.09	0.47781	Phosphoglycerate kinase, N-terminal (1);	0.052412	0.64402	N	0.000001	D	0.86134	0.5860	M	0.76170	2.325	0.42207	D	0.991799	P	0.42649	0.786	B	0.31101	0.124	D	0.88339	0.2973	10	0.48119	T	0.1	-6.55	14.5839	0.68310	0.0:1.0:0.0:0.0	.	151	P07205	PGK2_HUMAN	Q	151	ENSP00000305995:R151Q	ENSP00000305995:R151Q	R	-	2	0	PGK2	49862408	0.999000	0.42202	0.508000	0.27688	0.701000	0.40568	4.275000	0.58927	2.562000	0.86427	0.585000	0.79938	CGA		0.498	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1			19	83	0	0	0	0	19	83				
GCLC	2729	broad.mit.edu	37	6	53373486	53373486	+	Silent	SNP	G	G	T	rs17879847		TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr6:53373486G>T	ENST00000229416.6	-	8	1335	c.852C>A	c.(850-852)ccC>ccA	p.P284P	RP1-27K12.4_ENST00000508884.1_RNA	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	284					apoptotic mitochondrial changes (GO:0008637)|cell redox homeostasis (GO:0045454)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to arsenic-containing substance (GO:0046685)|response to heat (GO:0009408)|response to hormone (GO:0009725)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|coenzyme binding (GO:0050662)|glutamate binding (GO:0016595)|glutamate-cysteine ligase activity (GO:0004357)|magnesium ion binding (GO:0000287)	p.P284P(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|Vitamin E(DB00163)	CTCGGTAAAAGGGAGATGCAG	0.443																																						uc003pbw.1		NA																	1	Substitution - coding silent(1)		kidney(1)	ovary(1)|central_nervous_system(1)	2						c.(850-852)CCC>CCA		glutamate-cysteine ligase, catalytic subunit	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)						116.0	110.0	112.0					6																	53373486		2203	4300	6503	SO:0001819	synonymous_variant	2729				anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding	g.chr6:53373486G>T	M90656	CCDS4952.1, CCDS75471.1	6p12	2008-02-05				ENSG00000001084	6.3.2.2		4311	protein-coding gene	gene with protein product		606857		GLCLC, GLCL		1350904	Standard	NM_001498		Approved	GCS	uc003pbw.2	P48506		ENST00000229416.6:c.852C>A	6.37:g.53373486G>T						GCLC_uc003pbv.1_Silent_p.P8P	p.P284P	NM_001498	NP_001489	P48506	GSH1_HUMAN			8	1240	-	Lung NSC(77;0.0137)		284					Q14399	Silent	SNP	ENST00000229416.6	37	c.852C>A	CCDS4952.1																																																																																				0.443	GCLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359710.2			13	95	1	0	3.27e-08	6.17e-08	13	95				
ZBTB2	57621	broad.mit.edu	37	6	151686959	151686959	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr6:151686959G>C	ENST00000325144.4	-	3	1382	c.1242C>G	c.(1240-1242)agC>agG	p.S414R		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	414					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		AAGTGTCGATGCTCTGGTTGA	0.512																																						uc003qoh.2		NA																	0				skin(1)	1						c.(1240-1242)AGC>AGG		zinc finger and BTB domain containing 2							120.0	97.0	105.0					6																	151686959		2203	4300	6503	SO:0001583	missense	57621				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:151686959G>C	BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20868	protein-coding gene	gene with protein product						10819331	Standard	NM_020861		Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.1242C>G	6.37:g.151686959G>C	ENSP00000323183:p.Ser414Arg						p.S414R	NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)	3	1377	-			414					A8K7C7|Q5SZ81|Q9P245	Missense_Mutation	SNP	ENST00000325144.4	37	c.1242C>G	CCDS5231.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.334729	0.41297	.	.	ENSG00000181472	ENST00000325144	T	0.05199	3.48	5.41	5.41	0.78517	.	0.137207	0.64402	D	0.000002	T	0.02047	0.0064	N	0.14661	0.345	0.46901	D	0.999246	P	0.49185	0.92	B	0.40602	0.334	T	0.51795	-0.8660	10	0.72032	D	0.01	-33.8487	10.7769	0.46354	0.147:0.0:0.853:0.0	.	414	Q8N680	ZBTB2_HUMAN	R	414	ENSP00000323183:S414R	ENSP00000323183:S414R	S	-	3	2	ZBTB2	151728652	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.060000	0.41394	2.537000	0.85549	0.563000	0.77884	AGC		0.512	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042715.1	NM_020861		7	49	0	0	0	0	7	49				
TMEM106B	54664	broad.mit.edu	37	7	12263954	12263954	+	Silent	SNP	A	A	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr7:12263954A>G	ENST00000396667.3	+	5	706	c.384A>G	c.(382-384)gtA>gtG	p.V128V	TMEM106B_ENST00000396668.3_Silent_p.V128V	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	128					cell death (GO:0008219)|dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		ACATTGGTGTAAAATCAGCCT	0.343																																						uc011jxk.1		NA																	0					0						c.(382-384)GTA>GTG		transmembrane protein 106B							260.0	223.0	235.0					7																	12263954		2203	4300	6503	SO:0001819	synonymous_variant	54664					integral to membrane		g.chr7:12263954A>G	BC033901	CCDS5358.1	7p21.3	2012-06-06			ENSG00000106460	ENSG00000106460			22407	protein-coding gene	gene with protein product		613413				20154673, 22511793	Standard	NM_018374		Approved	MGC33727, FLJ11273	uc003ssh.3	Q9NUM4	OTTHUMG00000125537	ENST00000396667.3:c.384A>G	7.37:g.12263954A>G						TMEM106B_uc003ssh.2_Silent_p.V128V	p.V128V	NM_018374	NP_060844	Q9NUM4	T106B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.185)	5	784	+			128					A4D108|Q53FL9|Q8N4L0	Silent	SNP	ENST00000396667.3	37	c.384A>G	CCDS5358.1																																																																																				0.343	TMEM106B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246870.3	NM_018374		44	105	0	0	0	0	44	105				
NPC1L1	29881	broad.mit.edu	37	7	44579405	44579406	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr7:44579405_44579406GC>AA	ENST00000289547.4	-	2	645_646	c.590_591GC>TT	c.(589-591)tGC>tTT	p.C197F	NPC1L1_ENST00000423141.1_Missense_Mutation_p.C197F|NPC1L1_ENST00000546276.1_Missense_Mutation_p.C197F|NPC1L1_ENST00000381160.3_Missense_Mutation_p.C197F	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	197					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GCTGGGCATTGCAAAGGGCAGA	0.634																																						uc003tlb.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(589-591)TGC>TTT		Niemann-Pick C1-like protein 1 isoform 1	Ezetimibe(DB00973)																																			SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44579405_44579406GC>AA		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.590_591delinsAA	7.37:g.44579405_44579406delinsAA	ENSP00000289547:p.Cys197Phe					NPC1L1_uc003tlc.2_Missense_Mutation_p.C197F|NPC1L1_uc011kbw.1_Missense_Mutation_p.C197F|NPC1L1_uc003tld.2_Missense_Mutation_p.C197F	p.C197F	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN			2	646_647	-			197			Extracellular (Potential).		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	DNP	ENST00000289547.4	37	c.590_591GC>TT	CCDS5491.1																																																																																				0.634	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		25	66	0	0	0	0	25	66				
SLC25A13	10165	broad.mit.edu	37	7	95775995	95775995	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr7:95775995T>A	ENST00000265631.5	-	14	1461	c.1325A>T	c.(1324-1326)cAg>cTg	p.Q442L	SLC25A13_ENST00000542654.1_Missense_Mutation_p.Q334L|SLC25A13_ENST00000416240.2_Missense_Mutation_p.Q443L			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	442					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GAAAATCACCTGGGAGCCTCC	0.433																																						uc003uof.3		NA																	0				central_nervous_system(3)|skin(1)	4						c.(1324-1326)CAG>CTG		solute carrier family 25, member 13 isoform 2	L-Aspartic Acid(DB00128)						95.0	109.0	104.0					7																	95775995		2203	4300	6503	SO:0001583	missense	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	g.chr7:95775995T>A	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1325A>T	7.37:g.95775995T>A	ENSP00000265631:p.Gln442Leu					SLC25A13_uc003uog.3_Missense_Mutation_p.Q443L|SLC25A13_uc011kik.1_Missense_Mutation_p.Q334L	p.Q442L	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)		14	1516	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		442			Solcar 2.|Helical; Name=3; (Potential).		O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	c.1325A>T	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.733348	0.89482	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.79247	-1.25;-1.25;-1.25	4.53	4.53	0.55603	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.89918	0.6854	M	0.91612	3.225	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92247	0.5805	10	0.87932	D	0	-9.4251	14.3535	0.66719	0.0:0.0:0.0:1.0	.	334;443;442	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	L	442;443;334	ENSP00000265631:Q442L;ENSP00000400101:Q443L;ENSP00000440484:Q334L	ENSP00000265631:Q442L	Q	-	2	0	SLC25A13	95613931	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.868000	0.87116	2.046000	0.60703	0.533000	0.62120	CAG		0.433	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		63	73	0	0	0	0	63	73				
MYOM2	9172	broad.mit.edu	37	8	2040177	2040177	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr8:2040177T>C	ENST00000262113.4	+	16	1973	c.1832T>C	c.(1831-1833)gTc>gCc	p.V611A	MYOM2_ENST00000523438.1_Missense_Mutation_p.V36A	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	611					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CGAAAAGTTGTCCCTTCTGCT	0.557																																						uc003wpx.3		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1831-1833)GTC>GCC		myomesin 2							197.0	202.0	200.0					8																	2040177		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2040177T>C		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1832T>C	8.37:g.2040177T>C	ENSP00000262113:p.Val611Ala					MYOM2_uc011kwi.1_Missense_Mutation_p.V36A	p.V611A	NM_003970	NP_003961	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	16	1970	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	611					Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.1832T>C	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	T	11.30	1.597558	0.28445	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.55052	0.54;0.54	5.72	-3.6	0.04570	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.655654	0.15413	N	0.263673	T	0.39410	0.1077	L	0.39085	1.19	0.09310	N	1	B	0.12013	0.005	B	0.16722	0.016	T	0.37126	-0.9719	10	0.54805	T	0.06	.	13.1487	0.59478	0.0:0.4438:0.0:0.5562	.	611	P54296	MYOM2_HUMAN	A	611;36	ENSP00000262113:V611A;ENSP00000428396:V36A	ENSP00000262113:V611A	V	+	2	0	MYOM2	2027584	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	1.106000	0.31098	-0.461000	0.06993	-0.375000	0.07067	GTC		0.557	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		103	144	0	0	0	0	103	144				
PRSS55	203074	broad.mit.edu	37	8	10388887	10388887	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr8:10388887C>T	ENST00000328655.3	+	3	470	c.430C>T	c.(430-432)Ctt>Ttt	p.L144F	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.L144F	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	144	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						CAGCATCATTCTTCACAAAGA	0.517																																						uc003wta.2		NA																	0				ovary(1)	1						c.(430-432)CTT>TTT		hypothetical protein LOC203074 precursor							185.0	168.0	174.0					8																	10388887		2203	4300	6503	SO:0001583	missense	203074				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr8:10388887C>T	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"""Serine peptidases / Serine peptidases"""	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.430C>T	8.37:g.10388887C>T	ENSP00000333003:p.Leu144Phe					uc010lru.2_Intron|PRSS55_uc003wtb.2_RNA	p.L144F	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN			3	445	+			144			Extracellular (Potential).|Peptidase S1.		E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	37	c.430C>T	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	C	5.021	0.189526	0.09547	.	.	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.93307	-3.2;-3.2	4.48	-7.61	0.01299	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.309360	0.02565	N	0.097131	D	0.86125	0.5858	L	0.37630	1.12	0.09310	N	1	B	0.13145	0.007	B	0.12837	0.008	T	0.74965	-0.3484	10	0.17369	T	0.5	.	5.3886	0.16231	0.5346:0.1637:0.0:0.3016	.	144	Q6UWB4	PRS55_HUMAN	F	144	ENSP00000333003:L144F;ENSP00000430459:L144F	ENSP00000333003:L144F	L	+	1	0	PRSS55	10426297	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.853000	0.04303	-1.526000	0.01760	-2.051000	0.00406	CTT		0.517	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		34	155	0	0	0	0	34	155				
WRN	7486	broad.mit.edu	37	8	30977842	30977842	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr8:30977842C>A	ENST00000298139.5	+	21	2781	c.2532C>A	c.(2530-2532)gaC>gaA	p.D844E		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	844	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTCCTAAGGACATGGAATCAT	0.423			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	uc003xio.3		NA	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Mis|N|F|S	Werner syndrome (RECQL2)			"""L, E, M, O"""		osteosarcoma|meningioma|others			0				ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(2530-2532)GAC>GAA	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner syndrome protein							173.0	163.0	166.0					8																	30977842		2203	4299	6502	SO:0001583	missense	7486	Werner_syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30977842C>A		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.2532C>A	8.37:g.30977842C>A	ENSP00000298139:p.Asp844Glu					WRN_uc010lvk.2_Missense_Mutation_p.D311E	p.D844E	NM_000553	NP_000544	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	21	3320	+		Breast(100;0.195)	844			Helicase C-terminal.		A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.2532C>A	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	C	4.589	0.109496	0.08780	.	.	ENSG00000165392	ENST00000298139	T	0.75589	-0.95	5.76	2.08	0.27032	Helicase, C-terminal (3);	0.055886	0.64402	N	0.000002	T	0.56124	0.1964	L	0.39898	1.24	0.22639	N	0.998901	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.37776	-0.9691	10	0.02654	T	1	-20.798	7.5929	0.28031	0.7477:0.1207:0.1316:0.0	.	254;844	Q59F09;Q14191	.;WRN_HUMAN	E	844	ENSP00000298139:D844E	ENSP00000298139:D844E	D	+	3	2	WRN	31097384	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.554000	0.36266	0.537000	0.28751	-0.264000	0.10439	GAC		0.423	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			31	72	1	0	8.17e-17	1.59e-16	31	72				
ARFGEF1	10565	broad.mit.edu	37	8	68150679	68150679	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr8:68150679C>G	ENST00000262215.3	-	22	3577	c.3188G>C	c.(3187-3189)gGa>gCa	p.G1063A	ARFGEF1_ENST00000518230.1_5'UTR|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.G517A	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1063					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AGGTTTCACTCCAGTTCCTAT	0.393																																						uc003xxo.1		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8						c.(3187-3189)GGA>GCA		brefeldin A-inhibited guanine							75.0	68.0	70.0					8																	68150679		2203	4300	6503	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68150679C>G	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.3188G>C	8.37:g.68150679C>G	ENSP00000262215:p.Gly1063Ala					ARFGEF1_uc003xxl.1_Missense_Mutation_p.G517A|ARFGEF1_uc003xxn.1_Missense_Mutation_p.G46A	p.G1063A	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		22	3578	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1063					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.3188G>C	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722412	0.89298	.	.	ENSG00000066777	ENST00000520381;ENST00000262215	T;T	0.73363	-0.74;-0.74	5.48	5.48	0.80851	Armadillo-type fold (1);	0.053759	0.85682	D	0.000000	D	0.89525	0.6740	M	0.91920	3.255	0.80722	D	1	D;D;D	0.89917	1.0;0.974;0.995	D;P;P	0.91635	0.999;0.831;0.831	D	0.90657	0.4587	10	0.52906	T	0.07	.	19.3369	0.94322	0.0:1.0:0.0:0.0	.	1063;541;517	Q9Y6D6;Q59FY5;E5RIF2	BIG1_HUMAN;.;.	A	517;1063	ENSP00000428429:G517A;ENSP00000262215:G1063A	ENSP00000262215:G1063A	G	-	2	0	ARFGEF1	68313233	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	2.566000	0.86566	0.650000	0.86243	GGA		0.393	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		18	37	0	0	0	0	18	37				
KCNB2	9312	broad.mit.edu	37	8	73850088	73850088	+	Missense_Mutation	SNP	G	G	C	rs375999807		TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr8:73850088G>C	ENST00000523207.1	+	3	3086	c.2498G>C	c.(2497-2499)tGc>tCc	p.C833S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	833					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)	AGCCCAAATTGCTTTGCAGAT	0.537																																						uc003xzb.2		NA																	0				skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(2497-2499)TGC>TCC		potassium voltage-gated channel, Shab-related							81.0	80.0	80.0					8																	73850088		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73850088G>C	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.2498G>C	8.37:g.73850088G>C	ENSP00000430846:p.Cys833Ser						p.C833S	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	3086	+	Breast(64;0.137)		833			Cytoplasmic (Potential).		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.2498G>C	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	0.797	-0.756828	0.03019	.	.	ENSG00000182674	ENST00000523207	D	0.96745	-4.11	5.46	5.46	0.80206	.	2.513830	0.01794	U	0.032518	D	0.93625	0.7964	L	0.29908	0.895	0.44194	D	0.997019	B	0.13145	0.007	B	0.09377	0.004	T	0.66666	-0.5866	10	0.11485	T	0.65	.	13.7246	0.62750	0.0731:0.0:0.9269:0.0	.	833	Q92953	KCNB2_HUMAN	S	833	ENSP00000430846:C833S	ENSP00000430846:C833S	C	+	2	0	KCNB2	74012642	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.573000	0.53856	2.838000	0.97847	0.591000	0.81541	TGC		0.537	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		21	51	0	0	0	0	21	51				
ZFHX4	79776	broad.mit.edu	37	8	77767248	77767248	+	Silent	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr8:77767248G>A	ENST00000521891.2	+	10	8539	c.8091G>A	c.(8089-8091)cgG>cgA	p.R2697R	ZFHX4_ENST00000455469.2_Silent_p.R2652R|ZFHX4_ENST00000050961.6_Silent_p.R2652R|ZFHX4_ENST00000518282.1_Silent_p.R2671R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2652					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTCGCTCTCGGCACTGGAATG	0.512										HNSCC(33;0.089)																												uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(7954-7956)CGG>CGA		zinc finger homeodomain 4							57.0	56.0	57.0					8																	77767248		1945	4136	6081	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767248G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8091G>A	8.37:g.77767248G>A		HNSCC(33;0.089)				ZFHX4_uc003yau.1_Silent_p.R2697R|ZFHX4_uc003yaw.1_Silent_p.R2652R	p.R2652R	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8343	+			2652			C2H2-type 17.		G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.7956G>A	CCDS47878.2																																																																																				0.512	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		17	60	0	0	0	0	17	60				
OSGIN2	734	broad.mit.edu	37	8	90926441	90926441	+	Splice_Site	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr8:90926441G>A	ENST00000297438.2	+	3	559	c.204G>A	c.(202-204)caG>caA	p.Q68Q	OSGIN2_ENST00000451899.2_Splice_Site_p.Q112Q|OSGIN2_ENST00000520659.1_Splice_Site_p.Q112Q	NM_004337.2	NP_004328.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	68					meiotic nuclear division (GO:0007126)					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TTGTTGATCAGGTATTATTTC	0.274																																						uc003yeg.2		NA																	0					0						c.(202-204)CAG>CAA		oxidative stress induced growth inhibitor family							69.0	71.0	70.0					8																	90926441		2201	4298	6499	SO:0001630	splice_region_variant	734				germ cell development|meiosis			g.chr8:90926441G>A	AF061326	CCDS6248.1, CCDS47888.1	8q21	2006-10-05	2006-10-05	2006-10-05	ENSG00000164823	ENSG00000164823			1355	protein-coding gene	gene with protein product		604598	"""chromosome 8 open reading frame 1"""	C8orf1		9933573	Standard	NM_004337		Approved	hT41	uc003yeh.3	Q9Y236	OTTHUMG00000163811	ENST00000297438.2:c.204+1G>A	8.37:g.90926441G>A						OSGIN2_uc003yeh.2_Silent_p.Q112Q	p.Q68Q	NM_004337	NP_004328	Q9Y236	OSGI2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		3	550	+			68						Silent	SNP	ENST00000297438.2	37	c.204G>A	CCDS6248.1																																																																																				0.274	OSGIN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375691.1	NM_004337	Silent	9	29	0	0	0	0	9	29				
RNF19A	25897	broad.mit.edu	37	8	101299760	101299760	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr8:101299760C>T	ENST00000519449.1	-	3	959	c.643G>A	c.(643-645)Gat>Aat	p.D215N	RNF19A_ENST00000341084.2_Missense_Mutation_p.D215N	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	215					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			CACCTACAATCAGGATCTGCA	0.358																																						uc003yjj.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(643-645)GAT>AAT		ring finger protein 19							108.0	105.0	106.0					8																	101299760		2203	4300	6503	SO:0001583	missense	25897				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding	g.chr8:101299760C>T	AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.643G>A	8.37:g.101299760C>T	ENSP00000428968:p.Asp215Asn					RNF19A_uc003yjk.1_Missense_Mutation_p.D215N|RNF19A_uc003yjl.1_Missense_Mutation_p.D215N	p.D215N	NM_015435	NP_056250	Q9NV58	RN19A_HUMAN	Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		3	960	-	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		215			IBR-type.		A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	ENST00000519449.1	37	c.643G>A	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704851	0.88924	.	.	ENSG00000034677	ENST00000519449;ENST00000341084	T;T	0.80653	-1.4;-1.4	5.34	5.34	0.76211	Zinc finger, C6HC-type (2);	0.000000	0.85682	D	0.000000	D	0.87497	0.6192	L	0.49350	1.555	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87285	0.2295	10	0.49607	T	0.09	.	18.6604	0.91470	0.0:1.0:0.0:0.0	.	215	Q9NV58	RN19A_HUMAN	N	215	ENSP00000428968:D215N;ENSP00000342667:D215N	ENSP00000342667:D215N	D	-	1	0	RNF19A	101368936	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.480000	0.83734	0.557000	0.71058	GAT		0.358	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435		28	59	0	0	0	0	28	59				
CSMD3	114788	broad.mit.edu	37	8	113267646	113267646	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr8:113267646A>T	ENST00000297405.5	-	62	10117	c.9873T>A	c.(9871-9873)tgT>tgA	p.C3291*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.C3122*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.C3221*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.C3251*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3291	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAGGGTCACCACAAAACTTTG	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(9871-9873)TGT>TGA		CUB and Sushi multiple domains 3 isoform 1							83.0	79.0	80.0					8																	113267646		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113267646A>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9873T>A	8.37:g.113267646A>T	ENSP00000297405:p.Cys3291*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Nonsense_Mutation_p.C2493*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.C3251*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.C3122*	p.C3291*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			62	10032	-			3291			Extracellular (Potential).|Sushi 26.		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.9873T>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	52	19.562124	0.99921	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	4.99	2.49	0.30216	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8969	0.35470	0.843:0.0:0.157:0.0	.	.	.	.	X	3251;3291;2561;3122;3221	.	ENSP00000297405:C3291X	C	-	3	2	CSMD3	113336822	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	2.051000	0.41307	0.342000	0.23796	0.528000	0.53228	TGT		0.363	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		10	52	0	0	0	0	10	52				
TRPS1	7227	broad.mit.edu	37	8	116631670	116631670	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr8:116631670C>T	ENST00000220888.5	-	2	775	c.616G>A	c.(616-618)Gtg>Atg	p.V206M	TRPS1_ENST00000520276.1_Missense_Mutation_p.V210M|TRPS1_ENST00000395715.3_Missense_Mutation_p.V219M|TRPS1_ENST00000519674.1_Missense_Mutation_p.V206M|TRPS1_ENST00000519076.1_Missense_Mutation_p.V160M			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	206					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTGTCATTCACCAGTAAGTCA	0.468									Langer-Giedion syndrome																													uc003ynz.2		NA																	0				ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(616-618)GTG>ATG		zinc finger transcription factor TRPS1							134.0	134.0	134.0					8																	116631670		1987	4191	6178	SO:0001583	missense	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116631670C>T	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.616G>A	8.37:g.116631670C>T	ENSP00000220888:p.Val206Met					TRPS1_uc011lhy.1_Missense_Mutation_p.V210M|TRPS1_uc003yny.2_Missense_Mutation_p.V219M|TRPS1_uc010mcy.2_Missense_Mutation_p.V206M	p.V206M	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		2	1075	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		206					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.616G>A		.	.	.	.	.	.	.	.	.	.	C	18.47	3.630534	0.67015	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	D;D;D;D;T	0.98717	-5.09;-5.06;-5.08;-5.06;0.74	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000014	D	0.96861	0.8975	N	0.24115	0.695	0.45946	D	0.998777	P;P;P	0.47191	0.891;0.826;0.891	B;B;B	0.44224	0.444;0.259;0.444	D	0.97619	1.0134	10	0.72032	D	0.01	.	19.5324	0.95234	0.0:1.0:0.0:0.0	.	210;206;219	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	M	219;206;160;210;206	ENSP00000379065:V219M;ENSP00000220888:V206M;ENSP00000428910:V160M;ENSP00000428680:V210M;ENSP00000429174:V206M	ENSP00000220888:V206M	V	-	1	0	TRPS1	116700845	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.674000	0.46867	2.619000	0.88677	0.460000	0.39030	GTG		0.468	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		29	121	0	0	0	0	29	121				
COL22A1	169044	broad.mit.edu	37	8	139642988	139642988	+	Missense_Mutation	SNP	C	C	A	rs369720357		TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr8:139642988C>A	ENST00000303045.6	-	50	4059	c.3613G>T	c.(3613-3615)Gca>Tca	p.A1205S	COL22A1_ENST00000435777.1_Missense_Mutation_p.A1185S|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1205	Collagen-like 11.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ATTCCATCTGCCCCCTAAAAA	0.443										HNSCC(7;0.00092)																												uc003yvd.2		NA																	0				ovary(11)|pancreas(1)|skin(1)	13						c.(3613-3615)GCA>TCA		collagen, type XXII, alpha 1							119.0	119.0	119.0					8																	139642988		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139642988C>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3613G>T	8.37:g.139642988C>A	ENSP00000303153:p.Ala1205Ser	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Missense_Mutation_p.A485S	p.A1205S	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		50	4060	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1205			Pro-rich.|Gly-rich.|Collagen-like 11.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.3613G>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	9.337	1.062128	0.19987	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.93247	-3.19;-3.19	5.65	3.83	0.44106	.	0.618393	0.14147	N	0.338269	D	0.86781	0.6015	N	0.25245	0.725	0.24619	N	0.993681	P;P	0.40000	0.51;0.698	B;B	0.42625	0.273;0.393	T	0.76884	-0.2794	10	0.07482	T	0.82	.	9.0579	0.36416	0.0:0.8306:0.0:0.1694	.	1185;1205	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	S	1205;1185;898	ENSP00000303153:A1205S;ENSP00000387655:A1185S	ENSP00000303153:A1205S	A	-	1	0	COL22A1	139712170	0.427000	0.25514	0.987000	0.45799	0.989000	0.77384	-0.165000	0.09968	1.631000	0.50456	0.655000	0.94253	GCA		0.443	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		35	109	1	0	4.9e-10	9.39e-10	35	109				
PIP5K1B	8395	broad.mit.edu	37	9	71555671	71555671	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr9:71555671C>G	ENST00000265382.3	+	14	1772	c.1467C>G	c.(1465-1467)caC>caG	p.H489Q	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.H489Q	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	489					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		TCAATGAGCACTATCCACACG	0.478																																						uc004agu.2		NA																	0				stomach(1)	1						c.(1465-1467)CAC>CAG		phosphatidylinositol-4-phosphate 5-kinase, type							293.0	231.0	252.0					9																	71555671		2203	4300	6503	SO:0001583	missense	8395					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	g.chr9:71555671C>G	U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242			8995	protein-coding gene	gene with protein product		602745				9177790, 8841185	Standard	NM_003558		Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.1467C>G	9.37:g.71555671C>G	ENSP00000265382:p.His489Gln					PIP5K1B_uc011lrq.1_Missense_Mutation_p.H489Q|PIP5K1B_uc004agv.2_RNA	p.H489Q	NM_003558	NP_003549	O14986	PI51B_HUMAN		Lung(182;0.133)	14	1772	+			489					A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Missense_Mutation	SNP	ENST00000265382.3	37	c.1467C>G	CCDS6624.1	.	.	.	.	.	.	.	.	.	.	C	2.429	-0.331206	0.05314	.	.	ENSG00000107242	ENST00000541509;ENST00000377290;ENST00000265382;ENST00000419747	T;T	0.24538	1.86;1.85	5.78	-4.55	0.03441	.	0.678094	0.15627	N	0.252620	T	0.08268	0.0206	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28522	-1.0041	10	0.14656	T	0.56	-16.9584	0.6098	0.00759	0.2313:0.278:0.2458:0.2449	.	489	O14986	PI51B_HUMAN	Q	489;489;489;436	ENSP00000438082:H489Q;ENSP00000265382:H489Q	ENSP00000265382:H489Q	H	+	3	2	PIP5K1B	70745491	0.058000	0.20735	0.012000	0.15200	0.015000	0.08874	-0.463000	0.06696	-0.327000	0.08551	-0.345000	0.07892	CAC		0.478	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	NM_003558		33	56	0	0	0	0	33	56				
TEX10	54881	broad.mit.edu	37	9	103090242	103090242	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr9:103090242T>C	ENST00000374902.4	-	8	1804	c.1628A>G	c.(1627-1629)tAt>tGt	p.Y543C	TEX10_ENST00000535814.1_Missense_Mutation_p.Y546C	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	543						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TTTACTACGATATCTTAGAAA	0.338																																						uc004bas.2		NA																	0				ovary(1)|skin(1)	2						c.(1627-1629)TAT>TGT		testis expressed 10 isoform 1							70.0	61.0	64.0					9																	103090242		2203	4300	6503	SO:0001583	missense	54881					integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	g.chr9:103090242T>C	AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.1628A>G	9.37:g.103090242T>C	ENSP00000364037:p.Tyr543Cys					TEX10_uc011lvf.1_Missense_Mutation_p.Y382C|TEX10_uc011lvg.1_Missense_Mutation_p.Y546C	p.Y543C	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.157)	8	1843	-		Acute lymphoblastic leukemia(62;0.0527)	543					B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	ENST00000374902.4	37	c.1628A>G	CCDS6748.1	.	.	.	.	.	.	.	.	.	.	T	15.13	2.742888	0.49151	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000444730	.	.	.	5.21	1.42	0.22433	.	0.214204	0.37715	N	0.001978	T	0.35278	0.0926	N	0.14661	0.345	0.80722	D	1	P;D;P	0.61080	0.875;0.989;0.947	B;P;B	0.56216	0.338;0.794;0.258	T	0.20306	-1.0279	9	0.39692	T	0.17	-0.3543	2.5461	0.04737	0.2456:0.4185:0.0:0.3359	.	546;411;543	B4DYV2;E7ERG2;Q9NXF1	.;.;TEX10_HUMAN	C	546;543;411	.	ENSP00000364037:Y543C	Y	-	2	0	TEX10	102130063	0.969000	0.33509	0.925000	0.36789	0.965000	0.64279	1.599000	0.36751	0.291000	0.22468	-0.333000	0.08304	TAT		0.338	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746		4	9	0	0	0	0	4	9				
TUBB4B	10383	broad.mit.edu	37	9	140137973	140137973	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr9:140137973G>A	ENST00000340384.4	+	4	1451	c.1303G>A	c.(1303-1305)Gag>Aag	p.E435K		NM_006088.5	NP_006079.1	P68371	TBB4B_HUMAN	tubulin, beta 4B class IVb	435					'de novo' posttranslational protein folding (GO:0051084)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|unfolded protein binding (GO:0051082)									Albendazole(DB00518)|Mebendazole(DB00643)	GGAGGAGGGCGAGTTCGAGGA	0.587																																						uc004cmh.1		NA																	0				ovary(1)	1						c.(1303-1305)GAG>AAG		tubulin, beta, 2							88.0	89.0	89.0					9																	140137973		2203	4300	6503	SO:0001583	missense	10383				'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding	g.chr9:140137973G>A	BC019359	CCDS7039.1	9q34.3	2011-10-10	2011-10-10	2011-10-10	ENSG00000188229	ENSG00000188229		"""Tubulins"""	20771	protein-coding gene	gene with protein product	"""class IVb beta-tubulin"""	602660	"""tubulin, beta 2C"""	TUBB2C		3999141	Standard	NM_006088		Approved	Beta2	uc004cmh.1	P68371	OTTHUMG00000131783	ENST00000340384.4:c.1303G>A	9.37:g.140137973G>A	ENSP00000341289:p.Glu435Lys					TUBB2C_uc004cmg.1_Missense_Mutation_p.E289K	p.E435K	NM_006088	NP_006079	P68371	TBB2C_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	4	1405	+	all_cancers(76;0.0926)		435					A2BFA2|P05217	Missense_Mutation	SNP	ENST00000340384.4	37	c.1303G>A	CCDS7039.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.889302	0.33348	.	.	ENSG00000188229	ENST00000340384	T	0.71579	-0.58	5.35	4.46	0.54185	.	0.301944	0.22544	U	0.058688	T	0.77968	0.4210	H	0.98027	4.13	0.53688	D	0.999975	P	0.48503	0.911	B	0.33799	0.17	D	0.84650	0.0700	10	0.87932	D	0	.	12.0243	0.53360	0.0844:0.0:0.9156:0.0	.	435	P68371	TBB4B_HUMAN	K	435	ENSP00000341289:E435K	ENSP00000341289:E435K	E	+	1	0	TUBB2C	139257794	1.000000	0.71417	0.998000	0.56505	0.581000	0.36288	9.687000	0.98667	1.258000	0.44101	0.655000	0.94253	GAG		0.587	TUBB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254715.1	NM_006088		48	45	0	0	0	0	48	45				
SLC25A6	293	broad.mit.edu	37	X	1508618	1508618	+	Silent	SNP	G	G	C			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chrX:1508618G>C	ENST00000381401.5	-	2	828	c.114C>G	c.(112-114)gtC>gtG	p.V38V	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	38					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	TGGCGTGCTGGACCTGGGGGA	0.587																																						uc004cpt.2		NA																	0					0						c.(112-114)GTC>GTG		adenine nucleotide translocator 3	Clodronate(DB00720)						86.0	80.0	82.0					X																	1508618		2203	4296	6499	SO:0001819	synonymous_variant	293				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	g.chrX:1508618G>C	AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"""Pseudoautosomal regions / PAR1"", ""Solute carriers"""	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.114C>G	X.37:g.1508618G>C						SLC25A6_uc004cpu.2_RNA	p.V38V	NM_001636	NP_001627	P12236	ADT3_HUMAN			2	210	-		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)	38			Solcar 1.|Helical; Name=1; (By similarity).		Q96C49	Silent	SNP	ENST00000381401.5	37	c.114C>G	CCDS14114.1																																																																																				0.587	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055596.1	NM_001636		26	199	0	0	0	0	26	199				
FRMPD4	9758	broad.mit.edu	37	X	12735807	12735807	+	Silent	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chrX:12735807G>A	ENST00000380682.1	+	16	3368	c.2862G>A	c.(2860-2862)ccG>ccA	p.P954P		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	954					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCGAGTTCCCGGCCTCCAAGA	0.612																																						uc004cuz.1		NA																	0				central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						c.(2860-2862)CCG>CCA		FERM and PDZ domain containing 4							83.0	86.0	85.0					X																	12735807		2203	4300	6503	SO:0001819	synonymous_variant	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12735807G>A	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.2862G>A	X.37:g.12735807G>A						FRMPD4_uc011mij.1_Silent_p.P946P	p.P954P	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN			16	3368	+			954					A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	c.2862G>A	CCDS35201.1																																																																																				0.612	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		76	42	0	0	0	0	76	42				
ACOT9	23597	broad.mit.edu	37	X	23724804	23724804	+	Silent	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chrX:23724804G>A	ENST00000336430.7	-	10	887	c.756C>T	c.(754-756)gcC>gcT	p.A252A	ACOT9_ENST00000379295.1_Silent_p.A192A|ACOT9_ENST00000379303.5_Silent_p.A261A	NM_001033583.2	NP_001028755.2	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	252					acyl-CoA metabolic process (GO:0006637)	mitochondrion (GO:0005739)	acetyl-CoA hydrolase activity (GO:0003986)|carboxylic ester hydrolase activity (GO:0052689)			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						CAGCGCTGGGGGCCATTTTCA	0.488																																						uc004dap.2		NA																	0				ovary(2)|pancreas(1)	3						c.(754-756)GCC>GCT		acyl-Coenzyme A thioesterase 2, mitochondrial							135.0	100.0	112.0					X																	23724804		2203	4300	6503	SO:0001819	synonymous_variant	23597				acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chrX:23724804G>A	AF132950	CCDS35216.1, CCDS43924.1	Xp22.11	2008-02-05			ENSG00000123130	ENSG00000123130		"""Acyl CoA thioesterases"""	17152	protein-coding gene	gene with protein product		300862				10383425, 10810093, 16103133, 16940157	Standard	XM_005274471		Approved	CGI-16, MT-ACT48, ACATE2	uc004dao.3	Q9Y305	OTTHUMG00000021257	ENST00000336430.7:c.756C>T	X.37:g.23724804G>A						ACOT9_uc004dan.2_Silent_p.A2A|ACOT9_uc004dao.2_Silent_p.A261A|ACOT9_uc004daq.2_Silent_p.A210A|ACOT9_uc004dar.2_Silent_p.A192A|ACOT9_uc011mjt.1_RNA|ACOT9_uc004das.2_Silent_p.A192A	p.A252A	NM_001033583	NP_001028755	Q9Y305	ACOT9_HUMAN			10	902	-			252					B3KNC9|B7ZM94	Silent	SNP	ENST00000336430.7	37	c.756C>T	CCDS35216.1																																																																																				0.488	ACOT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056065.1	NM_012332		16	44	0	0	0	0	16	44				
SAT1	6303	broad.mit.edu	37	X	23801827	23801827	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chrX:23801827G>A	ENST00000379251.3	+	2	298	c.119G>A	c.(118-120)gGt>gAt	p.G40D	Y_RNA_ENST00000365402.1_RNA|SAT1_ENST00000379254.1_Splice_Site|SAT1_ENST00000379253.3_Splice_Site|SAT1_ENST00000489394.1_Splice_Site|RP13-314C10.5_ENST00000366134.2_RNA|SAT1_ENST00000379270.4_Splice_Site			Q9H2B4	S26A1_HUMAN	spermidine/spermine N1-acetyltransferase 1	0					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			breast(1)|endometrium(3)|kidney(3)|lung(3)	10						ACTGAAAAAGGTAATTCAACA	0.488																																						uc004dau.2		NA																	0					0						c.e2+1		diamine N-acetyltransferase 1	Spermine(DB00127)						71.0	67.0	69.0					X																	23801827		2203	4300	6503	SO:0001583	missense	6303				angiogenesis|polyamine biosynthetic process	cytosol	diamine N-acetyltransferase activity|protein binding	g.chrX:23801827G>A	M55580	CCDS14207.1	Xp22.1	2011-11-16	2006-08-24	2006-08-24	ENSG00000130066	ENSG00000130066	2.3.1.57		10540	protein-coding gene	gene with protein product	"""diamine N-acetyltransferase 1"""	313020	"""spermidine/spermine N1-acetyltransferase"""	SAT		1985966, 1417826	Standard	NM_002970		Approved	SSAT	uc004dau.3	P21673	OTTHUMG00000021256	ENST00000379251.3:c.119G>A	X.37:g.23801827G>A	ENSP00000368553:p.Gly40Asp					SAT1_uc010nfv.2_Splice_Site_p.D40_splice|SAT1_uc004dav.2_Splice_Site	p.D40_splice	NM_002970	NP_002961	P21673	SAT1_HUMAN			2	312	+								A8K9N2|Q7Z5R3|Q96BK0	Splice_Site	SNP	ENST00000379251.3	37	c.118_splice		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.7|21.7	4.188642|4.188642	0.78789|0.78789	.|.	.|.	ENSG00000130066|ENSG00000130066	ENST00000379270;ENST00000379253;ENST00000379254;ENST00000342463|ENST00000379251	.|.	.|.	.|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74809	.|0.3765	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73579	.|-0.3938	.|4	.|.	.|.	.|.	.|-20.3517	18.6318|18.6318	0.91363|0.91363	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|D	-1|40	.|.	.|.	.|G	+|+	.|2	.|0	SAT1|SAT1	23711748|23711748	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.789000|0.789000	0.44602|0.44602	9.421000|9.421000	0.97455|0.97455	2.430000|2.430000	0.82344|0.82344	0.600000|0.600000	0.82982|0.82982	.|GGT		0.488	SAT1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000056059.1	NM_002970		10	11	0	0	0	0	10	11				
TRO	7216	broad.mit.edu	37	X	54955857	54955857	+	Silent	SNP	T	T	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chrX:54955857T>G	ENST00000173898.7	+	12	2812	c.2700T>G	c.(2698-2700)ggT>ggG	p.G900G	TRO_ENST00000319167.8_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Silent_p.G503G|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000420798.2_Silent_p.G431G	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	900	62 X 10 AA approximate tandem repeats.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TCTGTTTTGGTGGCTCTCCCA	0.557																																						uc004dtq.2		NA																	0				ovary(1)	1						c.(2698-2700)GGT>GGG		trophinin isoform 5							66.0	60.0	62.0					X																	54955857		2079	4198	6277	SO:0001819	synonymous_variant	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54955857T>G	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.2700T>G	X.37:g.54955857T>G						TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Silent_p.G431G|TRO_uc004dtw.2_Silent_p.G503G|TRO_uc004dtx.2_Silent_p.G283G	p.G900G	NM_001039705	NP_001034794	Q12816	TROP_HUMAN			12	2807	+			900			62 X 10 AA approximate tandem repeats.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Silent	SNP	ENST00000173898.7	37	c.2700T>G	CCDS43959.1																																																																																				0.557	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		3	51	0	0	0	0	3	51				
NAP1L3	4675	broad.mit.edu	37	X	92927031	92927031	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chrX:92927031C>T	ENST00000373079.3	-	1	1536	c.1273G>A	c.(1273-1275)Gga>Aga	p.G425R	FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000538690.1_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.G418R|FAM133A_ENST00000355813.5_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	425					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TCAATTTCTCCAGTAGCAGTT	0.443																																						uc004efq.2		NA																	0				ovary(1)|skin(1)	2						c.(1273-1275)GGA>AGA		nucleosome assembly protein 1-like 3							75.0	56.0	62.0					X																	92927031		2203	4300	6503	SO:0001583	missense	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92927031C>T		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.1273G>A	X.37:g.92927031C>T	ENSP00000362171:p.Gly425Arg					FAM133A_uc004efr.1_5'Flank	p.G425R	NM_004538	NP_004529	Q99457	NP1L3_HUMAN			1	1578	-			425					B2RCM0|O60788	Missense_Mutation	SNP	ENST00000373079.3	37	c.1273G>A	CCDS14465.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009356	0.54361	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.47869	0.83	3.42	3.42	0.39159	.	0.167223	0.52532	D	0.000071	T	0.58337	0.2115	L	0.57130	1.785	0.31550	N	0.658871	P	0.41624	0.757	P	0.56042	0.79	T	0.64491	-0.6395	10	0.51188	T	0.08	.	12.008	0.53270	0.0:1.0:0.0:0.0	.	425	Q99457	NP1L3_HUMAN	R	425;418	ENSP00000362171:G425R	ENSP00000362171:G425R	G	-	1	0	NAP1L3	92813687	1.000000	0.71417	0.218000	0.23776	0.944000	0.59088	5.274000	0.65569	1.976000	0.57569	0.529000	0.55759	GGA		0.443	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		6	4	0	0	0	0	6	4				
LUZP4	51213	broad.mit.edu	37	X	114540929	114540929	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chrX:114540929A>G	ENST00000371920.3	+	4	509	c.502A>G	c.(502-504)Aga>Gga	p.R168G	LUZP4_ENST00000451986.2_Missense_Mutation_p.R86G	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	168						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						CCACTTAGAGAGATCTCTTTC	0.448																																						uc004eqa.2		NA																	0				ovary(2)	2						c.(502-504)AGA>GGA		leucine zipper protein 4							113.0	107.0	109.0					X																	114540929		2203	4300	6503	SO:0001583	missense	51213					nucleus		g.chrX:114540929A>G	AF124430	CCDS14567.1	Xq24	2009-03-25			ENSG00000102021	ENSG00000102021			24971	protein-coding gene	gene with protein product	"""cancer/testis antigen 28"""	300616				12032826, 11051238	Standard	XM_005268343		Approved	HOM-TES-85, CT-8, CT28	uc004eqa.3	Q9P127	OTTHUMG00000022234	ENST00000371920.3:c.502A>G	X.37:g.114540929A>G	ENSP00000360988:p.Arg168Gly					LUZP4_uc004eqb.2_Missense_Mutation_p.R86G	p.R168G	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN			4	536	+			168					B3KSD6	Missense_Mutation	SNP	ENST00000371920.3	37	c.502A>G	CCDS14567.1	.	.	.	.	.	.	.	.	.	.	A	10.49	1.365914	0.24684	.	.	ENSG00000102021	ENST00000451986;ENST00000371920	D;D	0.82081	-1.57;-1.57	2.2	-0.411	0.12370	.	.	.	.	.	T	0.66713	0.2817	L	0.29908	0.895	0.09310	N	1	P;P	0.46512	0.782;0.879	B;B	0.37989	0.262;0.222	T	0.58797	-0.7573	9	0.48119	T	0.1	.	2.7933	0.05394	0.3917:0.2662:0.3421:0.0	.	86;168	B3KSD6;Q9P127	.;LUZP4_HUMAN	G	86;168	ENSP00000411212:R86G;ENSP00000360988:R168G	ENSP00000360988:R168G	R	+	1	2	LUZP4	114447185	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	0.560000	0.23500	-0.167000	0.10871	0.150000	0.16122	AGA		0.448	LUZP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057972.1	NM_016383		41	18	0	0	0	0	41	18				
RERE	473	broad.mit.edu	37	1	8716109	8716109	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:8716109delT	ENST00000337907.3	-	3	882	c.248delA	c.(247-249)aagfs	p.K83fs	RERE_ENST00000400908.2_Frame_Shift_Del_p.K83fs|RERE_ENST00000400907.2_Frame_Shift_Del_p.K83fs	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	83					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		ATAACGAGACTTTTTTTTCGG	0.453																																						uc001ape.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(247-249)AAGfs		atrophin-1 like protein isoform a							313.0	287.0	296.0					1																	8716109		2203	4300	6503	SO:0001589	frameshift_variant	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8716109delT	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.248delA	1.37:g.8716109delT	ENSP00000338629:p.Lys83fs					RERE_uc001apf.2_Frame_Shift_Del_p.K83fs|RERE_uc001aph.1_Frame_Shift_Del_p.K83fs	p.K83fs	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	3	1058	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	83					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Frame_Shift_Del	DEL	ENST00000337907.3	37	c.248delA	CCDS95.1																																																																																				0.453	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			9	367	NA	NA	NA	NA	9	367	---	---	---	---
RBBP4	5928	broad.mit.edu	37	1	33134662	33134664	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:33134662_33134664delAGA	ENST00000373493.5	+	6	849_851	c.690_692delAGA	c.(688-693)gtagaa>gta	p.E231del	RBBP4_ENST00000458695.2_In_Frame_Del_p.E196del|RBBP4_ENST00000524393.1_3'UTR|RBBP4_ENST00000544435.1_5'UTR|RBBP4_ENST00000373485.1_In_Frame_Del_p.E231del|RBBP4_ENST00000414241.3_In_Frame_Del_p.E230del	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	231					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin assembly (GO:0031497)|chromatin remodeling (GO:0006338)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|nucleosome assembly (GO:0006334)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|NURF complex (GO:0016589)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CGGCAGTAGTAGAAGATGTTTCC	0.433																																						uc001bvr.2		NA																	0				ovary(1)	1						c.(688-693)GTAGAA>GTA		retinoblastoma binding protein 4 isoform a																																				SO:0001651	inframe_deletion	5928				cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding	g.chr1:33134662_33134664delAGA	BC053904	CCDS366.1, CCDS44105.1, CCDS44106.1	1p35.1	2014-07-17	2001-11-28		ENSG00000162521	ENSG00000162521		"""WD repeat domain containing"""	9887	protein-coding gene	gene with protein product		602923	"""retinoblastoma-binding protein 4"""			8350924, 14609955, 17531812	Standard	NM_005610		Approved	RbAp48, NURF55, lin-53	uc001bvr.3	Q09028	OTTHUMG00000007998	ENST00000373493.5:c.690_692delAGA	1.37:g.33134665_33134667delAGA	ENSP00000362592:p.Glu231del					RBBP4_uc001bvs.2_In_Frame_Del_p.E230del|RBBP4_uc010ohj.1_5'UTR|RBBP4_uc010ohk.1_In_Frame_Del_p.E196del	p.E231del	NM_005610	NP_005601	Q09028	RBBP4_HUMAN			6	849_851	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	231			WD 3.		B2R6G9|B4DRH0|D3DPQ3|P31149|Q53H02|Q96BV9	In_Frame_Del	DEL	ENST00000373493.5	37	c.690_692delAGA	CCDS366.1																																																																																				0.433	RBBP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021957.3	NM_005610		24	60	NA	NA	NA	NA	24	60	---	---	---	---
PRPF38B	55119	broad.mit.edu	37	1	109241970	109241980	+	Frame_Shift_Del	DEL	GGGGTTAGAAC	GGGGTTAGAAC	-	rs3210429		TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr1:109241970_109241980delGGGGTTAGAAC	ENST00000370025.4	+	6	1238_1248	c.969_979delGGGGTTAGAAC	c.(967-981)cgggggttagaacgcfs	p.RGLER323fs	PRPF38B_ENST00000370021.1_Frame_Shift_Del_p.RGLER212fs	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	323	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GTATTGACCGGGGGTTAGAACGCAGGCGCAG	0.488																																						uc001dvv.3		NA																	0					0						c.(967-981)CGGGGGTTAGAACGCfs		PRP38 pre-mRNA processing factor 38 (yeast)																																				SO:0001589	frameshift_variant	55119				mRNA processing|RNA splicing	spliceosomal complex		g.chr1:109241970_109241980delGGGGTTAGAAC	AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"""				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.969_979delGGGGTTAGAAC	1.37:g.109241970_109241980delGGGGTTAGAAC	ENSP00000359042:p.Arg323fs					PRPF38B_uc001dvw.3_Frame_Shift_Del_p.R212fs|PRPF38B_uc010ouz.1_Frame_Shift_Del_p.R126fs	p.R323fs	NM_018061	NP_060531	Q5VTL8	PR38B_HUMAN		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)	6	1251_1261	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	323_327			Arg-rich.		Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Frame_Shift_Del	DEL	ENST00000370025.4	37	c.969_979delGGGGTTAGAAC	CCDS788.1																																																																																				0.488	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061		22	42	NA	NA	NA	NA	22	42	---	---	---	---
SYT16	83851	broad.mit.edu	37	14	62541956	62541957	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr14:62541956_62541957insA	ENST00000430451.2	+	3	1037_1038	c.840_841insA	c.(841-843)aaafs	p.K281fs	RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_Frame_Shift_Ins_p.K281fs	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	281					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GAGGGGATGCCAAACACCACGG	0.545																																						uc001xfu.1		NA																	0				central_nervous_system(1)	1						c.(838-843)GCCAAAfs		synaptotagmin XIV-like																																				SO:0001589	frameshift_variant	83851							g.chr14:62541956_62541957insA	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.843dupA	14.37:g.62541959_62541959dupA	ENSP00000394700:p.Lys281fs					SYT16_uc010tsd.1_Frame_Shift_Ins_p.A280fs	p.A280fs	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	3	1037_1038	+			280_281					B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Frame_Shift_Ins	INS	ENST00000430451.2	37	c.840_841insA	CCDS45121.1																																																																																				0.545	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		12	26	NA	NA	NA	NA	12	26	---	---	---	---
HYDIN	54768	broad.mit.edu	37	16	71212876	71212876	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr16:71212876delG	ENST00000393567.2	-	4	486	c.336delC	c.(334-336)cccfs	p.P112fs	HYDIN_ENST00000538248.1_Frame_Shift_Del_p.P139fs|HYDIN_ENST00000393550.2_Frame_Shift_Del_p.P112fs|HYDIN_ENST00000541601.1_Frame_Shift_Del_p.P129fs|HYDIN_ENST00000288168.10_Frame_Shift_Del_p.P129fs|HYDIN_ENST00000321489.5_Frame_Shift_Del_p.P112fs|HYDIN_ENST00000448691.1_Frame_Shift_Del_p.P112fs|HYDIN_ENST00000448089.2_Frame_Shift_Del_p.P112fs	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	112					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGACTTCACAGGGAGTGTAGT	0.388																																						uc002ezr.2		NA																	0				ovary(1)|skin(1)	2						c.(334-336)CCCfs		hydrocephalus inducing isoform a							109.0	112.0	111.0					16																	71212876		2198	4300	6498	SO:0001589	frameshift_variant	54768							g.chr16:71212876delG	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.336delC	16.37:g.71212876delG	ENSP00000377197:p.Pro112fs					HYDIN_uc010cfz.1_5'UTR|HYDIN_uc002ezv.2_Frame_Shift_Del_p.P112fs|HYDIN_uc010vmc.1_Frame_Shift_Del_p.P129fs|HYDIN_uc010vmd.1_Frame_Shift_Del_p.P139fs|HYDIN_uc002ezw.3_Frame_Shift_Del_p.P129fs	p.P112fs	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			4	464	-		Ovarian(137;0.0654)	112					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Frame_Shift_Del	DEL	ENST00000393567.2	37	c.336delC	CCDS59269.1																																																																																				0.388	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			13	122	NA	NA	NA	NA	13	122	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579718	7579718	+	Frame_Shift_Del	DEL	A	A	-	rs397516438		TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr17:7579718delA	ENST00000269305.4	-	3	267	c.78delT	c.(76-78)cttfs	p.L26fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Del_p.L26fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.L26fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.L26fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.L26fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.L26fs	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	26	Interaction with HRMT1L2.|Transcription activation (acidic).				apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.L26fs*18(1)|p.P13fs*18(1)|p.L26fs*11(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)	TGTTTTCAGGAAGTCTGAAAG	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		11	Whole gene deletion(8)|Deletion - Frameshift(2)|Complex - frameshift(1)	p.0?(7)|p.L26fs*18(1)|p.P13fs*18(1)|p.L26fs*11(1)	bone(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|lung(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						c.(76-78)CTTfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							42.0	42.0	42.0					17																	7579718		2203	4300	6503	SO:0001589	frameshift_variant	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.chr17:7579718delA	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.78delT	17.37:g.7579718delA	ENSP00000269305:p.Leu26fs	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_Frame_Shift_Del_p.L26fs|TP53_uc002gih.2_Frame_Shift_Del_p.L26fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.L26fs|TP53_uc010cni.1_Frame_Shift_Del_p.L26fs|TP53_uc002gij.2_Frame_Shift_Del_p.L26fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Frame_Shift_Del_p.L26fs|TP53_uc002gio.2_Intron|TP53_uc010vug.1_5'UTR|TP53_uc010cnk.1_Frame_Shift_Del_p.L41fs	p.L26fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	3	272	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	26			Transcription activation (acidic).|Interaction with HRMT1L2.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.78delT	CCDS11118.1																																																																																				0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		23	28	NA	NA	NA	NA	23	28	---	---	---	---
ZGRF1	55345	broad.mit.edu	37	4	113540154	113540155	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr4:113540154_113540155delTG	ENST00000505019.1	-	6	1168_1169	c.1043_1044delCA	c.(1042-1044)acafs	p.T348fs	C4orf21_ENST00000445203.2_Frame_Shift_Del_p.T317fs|C4orf21_ENST00000309071.5_Frame_Shift_Del_p.T348fs	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		348						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GTTTCCTTTCTGTATCATTCCC	0.366																																						uc003iau.2		NA																	0					0						c.(1042-1044)ACAfs		prematurely terminated mRNA decay factor-like																																				SO:0001589	frameshift_variant	55345					integral to membrane	zinc ion binding	g.chr4:113540154_113540155delTG																												ENST00000505019.1:c.1043_1044delCA	4.37:g.113540154_113540155delTG	ENSP00000424737:p.Thr348fs					C4orf21_uc003iaw.2_Frame_Shift_Del_p.T348fs	p.T348fs	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	6	1254_1255	-		Ovarian(17;0.156)	Error:Variant_position_missing_in_Q6ZU11_after_alignment					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Frame_Shift_Del	DEL	ENST00000505019.1	37	c.1043_1044delCA																																																																																					0.366	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			23	41	NA	NA	NA	NA	23	41	---	---	---	---
LRP12	29967	broad.mit.edu	37	8	105503080	105503081	+	Frame_Shift_Ins	INS	-	-	TGAG			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr8:105503080_105503081insTGAG	ENST00000276654.5	-	7	2508_2509	c.2400_2401insCTCA	c.(2398-2403)tcagatfs	p.D801fs	LRP12_ENST00000424843.2_Frame_Shift_Ins_p.D782fs|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	801					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TGTCCTTGATCTGAGGCAAGAT	0.441																																						uc003yma.2		NA																	0					0						c.(2398-2403)TCAGATfs		low density lipoprotein-related protein 12																																				SO:0001589	frameshift_variant	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105503080_105503081insTGAG	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.2397_2400dupCTCA	8.37:g.105503081_105503084dupTGAG	ENSP00000276654:p.Asp801fs					LRP12_uc003ymb.2_Frame_Shift_Ins_p.S781fs|LRP12_uc003ylz.2_Frame_Shift_Ins_p.S206fs	p.S800fs	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		7	2495_2496	-			800_801			Cytoplasmic (Potential).		A8K137|B4DRQ2	Frame_Shift_Ins	INS	ENST00000276654.5	37	c.2400_2401insCTCA	CCDS6303.1																																																																																				0.441	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		26	80	NA	NA	NA	NA	26	80	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113259327	113259328	+	Frame_Shift_Ins	INS	-	-	T	rs142018478		TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr8:113259327_113259328insT	ENST00000297405.5	-	64	10387_10388	c.10143_10144insA	c.(10141-10146)aaaggafs	p.G3382fs	CSMD3_ENST00000455883.2_Frame_Shift_Ins_p.G3213fs|CSMD3_ENST00000352409.3_Frame_Shift_Ins_p.G3312fs|CSMD3_ENST00000343508.3_Frame_Shift_Ins_p.G3342fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3382	Sushi 27. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGAAGGTGTCCTTTTTTGCAAT	0.406										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(10141-10146)AAAGGAfs		CUB and Sushi multiple domains 3 isoform 1																																				SO:0001589	frameshift_variant	114788					integral to membrane|plasma membrane		g.chr8:113259327_113259328insT	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10144dupA	8.37:g.113259333_113259333dupT	ENSP00000297405:p.Gly3382fs	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Frame_Shift_Ins_p.K2583fs|CSMD3_uc003ynt.2_Frame_Shift_Ins_p.K3341fs|CSMD3_uc011lhx.1_Frame_Shift_Ins_p.K3212fs	p.K3381fs	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			64	10302_10303	-			3381_3382			Extracellular (Potential).|Sushi 27.		Q96PZ3	Frame_Shift_Ins	INS	ENST00000297405.5	37	c.10143_10144insA	CCDS6315.1																																																																																				0.406	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		17	49	NA	NA	NA	NA	17	49	---	---	---	---
LHX6	26468	broad.mit.edu	37	9	124989225	124989225	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7091-01A-11D-2012-08	TCGA-CV-7091-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	563c5a89-6dad-467e-b2ea-e07677574a08	54461e7d-d574-467e-8ed5-fc6ba01cc173	g.chr9:124989225delC	ENST00000373755.2	-	2	262	c.154delG	c.(154-156)gtcfs	p.V52fs	LHX6_ENST00000394319.4_Frame_Shift_Del_p.V81fs|LHX6_ENST00000541397.2_Frame_Shift_Del_p.V70fs|LHX6_ENST00000373754.2_Frame_Shift_Del_p.V52fs|LHX6_ENST00000340587.3_Frame_Shift_Del_p.V81fs|LHX6_ENST00000559529.1_5'Flank	NM_001242334.1	NP_001229263.1	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	52					cell maturation (GO:0048469)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|forebrain neuron fate commitment (GO:0021877)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)	8						GGTGAGCAGACAGATGGCGTG	0.662																																						uc010mvw.2		NA																	0					0						c.(154-156)GTCfs		LIM homeobox protein 6 isoform 1							73.0	54.0	60.0					9																	124989225		2191	4275	6466	SO:0001589	frameshift_variant	26468				cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:124989225delC	AB031041	CCDS6837.2, CCDS6838.2, CCDS56583.1, CCDS56584.1, CCDS59144.1	9q33.2	2011-06-20			ENSG00000106852	ENSG00000106852		"""Homeoboxes / LIM class"""	21735	protein-coding gene	gene with protein product		608215				10393337	Standard	NM_014368		Approved	LHX6.1	uc004blx.4	Q9UPM6	OTTHUMG00000020601	ENST00000373755.2:c.154delG	9.37:g.124989225delC	ENSP00000362860:p.Val52fs					LHX6_uc004blx.3_Frame_Shift_Del_p.V81fs|LHX6_uc004bly.3_Frame_Shift_Del_p.V81fs	p.V52fs	NM_014368	NP_055183	Q9UPM6	LHX6_HUMAN			2	263	-			52					A6PVQ1|A6PVQ2|A8K1B2|B7Z4D0|H0YN76|Q5T7S7|Q5T7S8|Q9NTK3|Q9UPM5	Frame_Shift_Del	DEL	ENST00000373755.2	37	c.154delG	CCDS56583.1																																																																																				0.662	LHX6-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053924.2	NM_014368		2	4	NA	NA	NA	NA	2	4	---	---	---	---
