#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
NOC2L	26155	broad.mit.edu	37	1	880925	880925	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:880925C>A	ENST00000327044.6	-	17	2075	c.2026G>T	c.(2026-2028)Gac>Tac	p.D676Y		NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	676	Asp/Glu-rich (acidic).				apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCGGTGTCGTCCTCTTCAGAG	0.577																																						uc001abz.3		NA																	0				ovary(1)|skin(1)	2						c.(2026-2028)GAC>TAC		nucleolar complex associated 2 homolog							116.0	108.0	111.0					1																	880925		2203	4300	6503	SO:0001583	missense	26155					nucleolus	protein binding	g.chr1:880925C>A	AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"""novel INHAT repressor"", ""protein phosphatase 1, regulatory subunit 12"""	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.2026G>T	1.37:g.880925C>A	ENSP00000317992:p.Asp676Tyr					NOC2L_uc001aby.3_Missense_Mutation_p.D473Y|NOC2L_uc009vjq.2_Missense_Mutation_p.D676Y	p.D676Y	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	17	2085	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	676			Asp/Glu-rich (acidic).		Q5SVA3|Q9BTN6	Missense_Mutation	SNP	ENST00000327044.6	37	c.2026G>T	CCDS3.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606452	0.66445	.	.	ENSG00000188976	ENST00000327044	T	0.66099	-0.19	3.63	3.63	0.41609	Armadillo-type fold (1);	0.321128	0.28653	N	0.014583	T	0.68439	0.3001	L	0.54323	1.7	0.21841	N	0.999514	D;D;D	0.62365	0.981;0.991;0.981	P;P;P	0.55161	0.726;0.77;0.726	T	0.63470	-0.6630	10	0.87932	D	0	-8.5891	14.047	0.64710	0.0:1.0:0.0:0.0	.	676;676;443	B3KNC3;Q9Y3T9;Q9H9J5	.;NOC2L_HUMAN;.	Y	676	ENSP00000317992:D676Y	ENSP00000317992:D676Y	D	-	1	0	NOC2L	870788	0.247000	0.23920	0.005000	0.12908	0.007000	0.05969	3.625000	0.54238	1.880000	0.54463	0.544000	0.68410	GAC		0.577	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	NM_015658		42	18	1	0	4.02e-15	5.58e-15	42	18				
MFN2	9927	broad.mit.edu	37	1	12064156	12064156	+	Missense_Mutation	SNP	C	C	T	rs8192303		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:12064156C>T	ENST00000235329.5	+	12	1590	c.1268C>T	c.(1267-1269)aCg>aTg	p.T423M	MFN2_ENST00000444836.1_Missense_Mutation_p.T423M	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	423					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AAGCAGATTACGGAGGAAGTG	0.493																																						uc001atn.3		NA																	0				ovary(1)	1						c.(1267-1269)ACG>ATG		mitofusin 2							54.0	57.0	56.0					1																	12064156		2203	4300	6503	SO:0001583	missense	9927				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr1:12064156C>T	AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.1268C>T	1.37:g.12064156C>T	ENSP00000235329:p.Thr423Met					MFN2_uc009vni.2_Missense_Mutation_p.T423M	p.T423M	NM_014874	NP_055689	O95140	MFN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	12	1721	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	423			Cytoplasmic (Potential).|Potential.		A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Missense_Mutation	SNP	ENST00000235329.5	37	c.1268C>T	CCDS30587.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803461	0.70682	.	.	ENSG00000116688	ENST00000444836;ENST00000235329;ENST00000376337	D;D	0.86097	-2.07;-2.07	5.66	5.66	0.87406	.	0.106801	0.64402	D	0.000005	D	0.88518	0.6458	M	0.71036	2.16	0.80722	D	1	D	0.54964	0.969	P	0.49665	0.618	D	0.88025	0.2771	10	0.42905	T	0.14	-20.5712	18.809	0.92050	0.0:1.0:0.0:0.0	.	423	O95140	MFN2_HUMAN	M	423;423;121	ENSP00000416338:T423M;ENSP00000235329:T423M	ENSP00000235329:T423M	T	+	2	0	MFN2	11986743	1.000000	0.71417	0.944000	0.38274	0.684000	0.39900	5.724000	0.68500	2.688000	0.91661	0.650000	0.86243	ACG		0.493	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874		16	19	0	0	0	0	16	19				
WDTC1	23038	broad.mit.edu	37	1	27627909	27627909	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:27627909G>A	ENST00000319394.3	+	13	1960	c.1425G>A	c.(1423-1425)ttG>ttA	p.L475L	WDTC1_ENST00000361771.3_Silent_p.L474L	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	475					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		GTGATGCATTGGGCCGCGACA	0.542																																						uc009vst.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1423-1425)TTG>TTA		WD and tetratricopeptide repeats 1							56.0	56.0	56.0					1																	27627909		2203	4300	6503	SO:0001819	synonymous_variant	23038						protein binding	g.chr1:27627909G>A	AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.1425G>A	1.37:g.27627909G>A						WDTC1_uc001bno.2_Silent_p.L474L|WDTC1_uc001bnp.1_RNA|WDTC1_uc001bnq.2_Silent_p.L153L	p.L475L	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)	13	1960	+		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	475					D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Silent	SNP	ENST00000319394.3	37	c.1425G>A																																																																																					0.542	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015023		23	9	0	0	0	0	23	9				
DEPDC1	55635	broad.mit.edu	37	1	68948183	68948183	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:68948183C>T	ENST00000456315.2	-	8	1422	c.1308G>A	c.(1306-1308)gaG>gaA	p.E436E	RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Intron	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	436					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)	p.E436D(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CACTGGATGCCTCTTTACTTG	0.373																																						uc001dem.3		NA																	1	Substitution - Missense(1)		prostate(1)		0						c.(1306-1308)GAG>GAA		DEP domain containing 1 isoform a							188.0	172.0	177.0					1																	68948183		1568	3582	5150	SO:0001819	synonymous_variant	55635				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	g.chr1:68948183C>T	AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.1308G>A	1.37:g.68948183C>T						DEPDC1_uc001dej.3_5'Flank|DEPDC1_uc001dek.3_Intron|DEPDC1_uc001del.3_Intron	p.E436E	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)	8	1425	-			436					A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Silent	SNP	ENST00000456315.2	37	c.1308G>A	CCDS44159.1																																																																																				0.373	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	NM_017779		70	45	0	0	0	0	70	45				
COL11A1	1301	broad.mit.edu	37	1	103491779	103491779	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:103491779T>A	ENST00000370096.3	-	6	1202	c.890A>T	c.(889-891)cAg>cTg	p.Q297L	COL11A1_ENST00000512756.1_Missense_Mutation_p.Q297L|COL11A1_ENST00000358392.2_Intron|COL11A1_ENST00000353414.4_Intron	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	297	Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TACCTCCGTCTGTGCTATTGT	0.443																																						uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(889-891)CAG>CTG		alpha 1 type XI collagen isoform A							268.0	223.0	238.0					1																	103491779		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.chr1:103491779T>A	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.890A>T	1.37:g.103491779T>A	ENSP00000359114:p.Gln297Leu					COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Intron|COL11A1_uc001dun.2_Intron|COL11A1_uc009weh.2_Missense_Mutation_p.Q297L	p.Q297L	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	6	1208	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	297			Nonhelical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.890A>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	T	13.77	2.336042	0.41398	.	.	ENSG00000060718	ENST00000370096;ENST00000512756	D;D	0.88586	-2.29;-2.4	5.39	4.24	0.50183	.	.	.	.	.	T	0.75874	0.3909	L	0.54323	1.7	0.80722	D	1	B;B	0.30482	0.18;0.281	B;B	0.21360	0.034;0.034	T	0.72043	-0.4409	9	0.25751	T	0.34	.	12.3785	0.55293	0.0:0.0:0.1411:0.8589	.	297;297	E9PCU0;P12107	.;COBA1_HUMAN	L	297	ENSP00000359114:Q297L;ENSP00000426533:Q297L	ENSP00000359114:Q297L	Q	-	2	0	COL11A1	103264367	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	1.810000	0.38932	0.856000	0.35383	0.523000	0.50628	CAG		0.443	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		15	16	0	0	0	0	15	16				
ITGA10	8515	broad.mit.edu	37	1	145533882	145533882	+	Missense_Mutation	SNP	A	A	C	rs74529007		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:145533882A>C	ENST00000369304.3	+	13	1703	c.1528A>C	c.(1528-1530)Atg>Ctg	p.M510L	ITGA10_ENST00000538811.1_Missense_Mutation_p.M379L|ITGA10_ENST00000539363.1_Missense_Mutation_p.M367L	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	510					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGCTGCCCCCATGTTCCTGGG	0.527																																						uc001eoa.2		NA																	0				lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8						c.(1528-1530)ATG>CTG		integrin, alpha 10 precursor							100.0	89.0	92.0					1																	145533882		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145533882A>C	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1528A>C	1.37:g.145533882A>C	ENSP00000358310:p.Met510Leu					NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.M379L|ITGA10_uc009wiw.2_Missense_Mutation_p.M367L|ITGA10_uc010oyw.1_Missense_Mutation_p.M455L	p.M510L	NM_003637	NP_003628	O75578	ITA10_HUMAN			13	1604	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		510			FG-GAP 5.|Extracellular (Potential).		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.1528A>C	CCDS918.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.211810	0.79240	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.10668	2.85;2.85;2.85	5.09	5.09	0.68999	.	0.052445	0.64402	D	0.000001	T	0.13072	0.0317	L	0.41124	1.26	0.58432	D	0.999999	D;B;P;D	0.71674	0.997;0.328;0.882;0.998	D;B;P;D	0.70016	0.967;0.171;0.858;0.954	T	0.06588	-1.0818	10	0.31617	T	0.26	.	12.8082	0.57626	1.0:0.0:0.0:0.0	.	476;379;367;510	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	L	510;476;367;379	ENSP00000358310:M510L;ENSP00000439894:M367L;ENSP00000440011:M379L	ENSP00000358310:M510L	M	+	1	0	ITGA10	144245239	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.066000	0.93949	1.921000	0.55644	0.533000	0.62120	ATG		0.527	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		4	36	0	0	0	0	4	36				
PLEKHO1	51177	broad.mit.edu	37	1	150131633	150131633	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:150131633T>A	ENST00000369124.4	+	6	1423	c.1145T>A	c.(1144-1146)cTg>cAg	p.L382Q	PLEKHO1_ENST00000025469.6_Missense_Mutation_p.L348Q|PLEKHO1_ENST00000369126.1_Missense_Mutation_p.L199Q	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	382	Negative regulator of AP-1 activity.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGAGAGACCTGTACAGACAG	0.622																																						uc001ett.2		NA																	0				lung(1)	1						c.(1144-1146)CTG>CAG		pleckstrin homology domain containing, family O							38.0	42.0	40.0					1																	150131633		2203	4300	6503	SO:0001583	missense	51177					cytoplasm|nucleus|plasma membrane		g.chr1:150131633T>A	AF073836	CCDS945.1	1q21.2	2013-01-10			ENSG00000023902	ENSG00000023902		"""Pleckstrin homology (PH) domain containing"""	24310	protein-coding gene	gene with protein product		608335				10799509	Standard	NM_016274		Approved	CKIP-1, OC120	uc001ett.3	Q53GL0	OTTHUMG00000012510	ENST00000369124.4:c.1145T>A	1.37:g.150131633T>A	ENSP00000358120:p.Leu382Gln					PLEKHO1_uc001etr.2_Missense_Mutation_p.L210Q|PLEKHO1_uc001ets.2_Missense_Mutation_p.L199Q|PLEKHO1_uc001etu.2_Missense_Mutation_p.L210Q	p.L382Q	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		6	1423	+	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		382			Negative regulator of AP-1 activity.		Q336K5|Q8IZ51|Q9NRV3|Q9UL48	Missense_Mutation	SNP	ENST00000369124.4	37	c.1145T>A	CCDS945.1	.	.	.	.	.	.	.	.	.	.	T	19.71	3.878018	0.72294	.	.	ENSG00000023902	ENST00000369126;ENST00000025469;ENST00000369124	T;T	0.51817	0.69;0.76	5.14	5.14	0.70334	.	0.084302	0.49305	D	0.000152	T	0.45418	0.1341	L	0.27053	0.805	0.58432	D	0.999992	D	0.76494	0.999	D	0.66716	0.946	T	0.53648	-0.8409	10	0.87932	D	0	-16.7125	14.2814	0.66216	0.0:0.0:0.0:1.0	.	382	Q53GL0	PKHO1_HUMAN	Q	199;348;382	ENSP00000025469:L348Q;ENSP00000358120:L382Q	ENSP00000025469:L348Q	L	+	2	0	PLEKHO1	148398257	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.282000	0.65615	2.155000	0.67459	0.533000	0.62120	CTG		0.622	PLEKHO1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034962.1	NM_016274		7	13	0	0	0	0	7	13				
HRNR	388697	broad.mit.edu	37	1	152191599	152191599	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:152191599C>A	ENST00000368801.2	-	3	2581	c.2506G>T	c.(2506-2508)Ggt>Tgt	p.G836C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	836					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGAAGTGACCTGAGGCAGAA	0.547																																						uc001ezt.1		NA																	0				skin(2)|ovary(1)	3						c.(2506-2508)GGT>TGT		hornerin							130.0	129.0	129.0					1																	152191599		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191599C>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2506G>T	1.37:g.152191599C>A	ENSP00000357791:p.Gly836Cys						p.G836C	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2582	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		836			8		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.2506G>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	2.074	-0.412255	0.04799	.	.	ENSG00000197915	ENST00000368801	T	0.18960	2.18	3.06	-0.0386	0.13879	.	.	.	.	.	T	0.11281	0.0275	L	0.54323	1.7	0.09310	N	1	D	0.67145	0.996	P	0.51453	0.67	T	0.09357	-1.0678	9	0.40728	T	0.16	.	5.2521	0.15527	0.0:0.469:0.4058:0.1252	.	836	Q86YZ3	HORN_HUMAN	C	836	ENSP00000357791:G836C	ENSP00000357791:G836C	G	-	1	0	HRNR	150458223	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.263000	0.08670	-0.247000	0.09597	-2.837000	0.00105	GGT		0.547	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		17	39	1	0	3.53e-06	4.13e-06	17	39				
FLG	2312	broad.mit.edu	37	1	152283555	152283555	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:152283555A>T	ENST00000368799.1	-	3	3842	c.3807T>A	c.(3805-3807)agT>agA	p.S1269R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1269	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGGCTAACACTGGATCCCT	0.552									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(3805-3807)AGT>AGA		filaggrin							268.0	251.0	257.0					1																	152283555		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283555A>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3807T>A	1.37:g.152283555A>T	ENSP00000357789:p.Ser1269Arg					uc001ezv.2_5'Flank	p.S1269R	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3843	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1269			Ser-rich.|Filaggrin 7.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.3807T>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	A	6.058	0.379030	0.11466	.	.	ENSG00000143631	ENST00000368799	T	0.05649	3.41	2.92	-2.77	0.05877	.	.	.	.	.	T	0.06962	0.0177	M	0.78801	2.425	0.09310	N	1	D	0.63880	0.993	D	0.69824	0.966	T	0.15263	-1.0443	9	0.14252	T	0.57	.	7.6291	0.28228	0.4358:0.0:0.5642:0.0	.	1269	P20930	FILA_HUMAN	R	1269	ENSP00000357789:S1269R	ENSP00000357789:S1269R	S	-	3	2	FLG	150550179	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-1.152000	0.03172	-0.994000	0.03463	-0.778000	0.03378	AGT		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		71	95	0	0	0	0	71	95				
IVL	3713	broad.mit.edu	37	1	152882594	152882594	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:152882594G>A	ENST00000368764.3	+	2	385	c.321G>A	c.(319-321)caG>caA	p.Q107Q	IVL_ENST00000392667.2_5'UTR			P07476	INVO_HUMAN	involucrin	107					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGAGCAGCAGCTTAAGCAGG	0.483																																						uc001fau.2		NA																	0				ovary(3)	3						c.(319-321)CAG>CAA		involucrin							55.0	58.0	57.0					1																	152882594		2203	4300	6503	SO:0001819	synonymous_variant	3713				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:152882594G>A	BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.321G>A	1.37:g.152882594G>A							p.Q107Q	NM_005547	NP_005538	P07476	INVO_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	367	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		107					Q5T7P4	Silent	SNP	ENST00000368764.3	37	c.321G>A	CCDS1030.1																																																																																				0.483	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547		8	12	0	0	0	0	8	12				
UBE2Q1	55585	broad.mit.edu	37	1	154528425	154528425	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:154528425C>G	ENST00000292211.4	-	2	422	c.343G>C	c.(343-345)Gtg>Ctg	p.V115L	UBE2Q1_ENST00000497453.1_5'UTR|UBE2Q1-AS1_ENST00000441613.1_RNA	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	115					embryo implantation (GO:0007566)|fertilization (GO:0009566)|mating behavior (GO:0007617)|prolactin secretion (GO:0070459)|protein ubiquitination (GO:0016567)|reproductive system development (GO:0061458)|suckling behavior (GO:0001967)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			ATGGGGGGCACAGCAGGGTAT	0.527																																						uc001fff.1		NA																	0					0						c.(343-345)GTG>CTG		ubiquitin-conjugating enzyme E2Q							70.0	70.0	70.0					1																	154528425		2203	4300	6503	SO:0001583	missense	55585						ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr1:154528425C>G	AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714		"""Ubiquitin-conjugating enzymes E2"""	15698	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2Q (putative)"""	UBE2Q			Standard	NM_017582		Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.343G>C	1.37:g.154528425C>G	ENSP00000292211:p.Val115Leu						p.V115L	NM_017582	NP_060052	Q7Z7E8	UB2Q1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	434	-	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		115					B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	Missense_Mutation	SNP	ENST00000292211.4	37	c.343G>C	CCDS1069.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.506459	0.44558	.	.	ENSG00000160714	ENST00000292211	T	0.46063	0.88	5.17	4.23	0.50019	.	0.138839	0.49305	D	0.000153	T	0.14787	0.0357	L	0.27053	0.805	0.29320	N	0.867432	B	0.19445	0.036	B	0.22753	0.041	T	0.12016	-1.0564	10	0.54805	T	0.06	-11.6858	10.4924	0.44758	0.353:0.647:0.0:0.0	.	115	Q7Z7E8	UB2Q1_HUMAN	L	115	ENSP00000292211:V115L	ENSP00000292211:V115L	V	-	1	0	UBE2Q1	152795049	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.175000	0.42491	1.356000	0.45884	0.563000	0.77884	GTG		0.527	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090704.1	NM_017582		15	37	0	0	0	0	15	37				
FCRL4	83417	broad.mit.edu	37	1	157556137	157556137	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:157556137G>C	ENST00000271532.1	-	6	1091	c.956C>G	c.(955-957)aCc>aGc	p.T319S	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	319	Ig-like C2-type 4.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GGAGAATGTGGTATCCCCTGT	0.617																																						uc001fqw.2		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(955-957)ACC>AGC		Fc receptor-like 4 precursor							90.0	80.0	83.0					1																	157556137		2203	4300	6503	SO:0001583	missense	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157556137G>C	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.956C>G	1.37:g.157556137G>C	ENSP00000271532:p.Thr319Ser					FCRL4_uc010phy.1_RNA	p.T319S	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN			6	1092	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	319			Ig-like C2-type 4.|Extracellular (Potential).		Q96PJ3|Q96RE0	Missense_Mutation	SNP	ENST00000271532.1	37	c.956C>G	CCDS1166.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.267145	0.23136	.	.	ENSG00000163518	ENST00000271532	D	0.83419	-1.72	4.12	0.31	0.15825	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.373374	0.19481	N	0.113213	T	0.71459	0.3342	L	0.53249	1.67	0.09310	N	1	P	0.51147	0.942	P	0.54856	0.762	T	0.63139	-0.6704	10	0.26408	T	0.33	.	5.7555	0.18170	0.491:0.0:0.509:0.0	.	319	Q96PJ5	FCRL4_HUMAN	S	319	ENSP00000271532:T319S	ENSP00000271532:T319S	T	-	2	0	FCRL4	155822761	0.977000	0.34250	0.037000	0.18230	0.011000	0.07611	0.711000	0.25764	0.189000	0.20188	0.467000	0.42956	ACC		0.617	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		15	37	0	0	0	0	15	37				
CD1E	913	broad.mit.edu	37	1	158324270	158324270	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:158324270G>C	ENST00000368167.3	+	2	401	c.162G>C	c.(160-162)gaG>gaC	p.E54D	CD1E_ENST00000368154.1_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.E52D|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.E54D|CD1E_ENST00000368165.3_Missense_Mutation_p.E54D|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.E54D|CD1E_ENST00000368156.1_Missense_Mutation_p.E54D|CD1E_ENST00000368161.3_Missense_Mutation_p.E54D|CD1E_ENST00000368155.3_Missense_Mutation_p.E54D	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	54					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CACACAGTGAGGGCTCAGGAT	0.572																																						uc001fse.2		NA																	0				skin(3)	3						c.(160-162)GAG>GAC		CD1E antigen isoform a precursor							81.0	85.0	84.0					1																	158324270		2187	4299	6486	SO:0001583	missense	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158324270G>C	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.162G>C	1.37:g.158324270G>C	ENSP00000357149:p.Glu54Asp					CD1E_uc010pid.1_Missense_Mutation_p.E52D|CD1E_uc010pie.1_Intron|CD1E_uc010pif.1_Intron|CD1E_uc001fsd.2_Missense_Mutation_p.E54D|CD1E_uc001fsk.2_Missense_Mutation_p.E54D|CD1E_uc001fsj.2_Missense_Mutation_p.E54D|CD1E_uc001fsc.2_Intron|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Missense_Mutation_p.E54D|CD1E_uc001fry.2_Missense_Mutation_p.E54D|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Missense_Mutation_p.E54D|CD1E_uc009wsv.2_Intron|CD1E_uc001frz.2_Missense_Mutation_p.E54D|CD1E_uc009wsw.2_5'Flank	p.E54D	NM_030893	NP_112155	P15812	CD1E_HUMAN			2	401	+	all_hematologic(112;0.0378)		54					B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	c.162G>C	CCDS41417.1	.	.	.	.	.	.	.	.	.	.	G	0.320	-0.962306	0.02249	.	.	ENSG00000158488	ENST00000434258;ENST00000368167;ENST00000368165;ENST00000368163;ENST00000368160;ENST00000368161;ENST00000368156;ENST00000368155	T;T;T;T;T;T;T;T	0.06294	3.32;3.32;3.55;3.32;3.32;3.32;3.74;3.64	3.8	1.88	0.25563	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.433581	0.17205	N	0.182963	T	0.00496	0.0016	N	0.01122	-1.005	0.19575	N	0.999966	B;B;B;B;B;B;B;B	0.23806	0.0;0.001;0.001;0.0;0.0;0.001;0.091;0.001	B;B;B;B;B;B;B;B	0.24155	0.002;0.001;0.001;0.005;0.001;0.002;0.051;0.014	T	0.42310	-0.9459	10	0.11485	T	0.65	-6.324	4.5025	0.11870	0.1162:0.0:0.6641:0.2197	.	52;54;54;54;54;54;54;54	E7ET31;P15812-5;P15812-7;P15812-2;P15812;P15812-3;P15812-6;P15812-4	.;.;.;.;CD1E_HUMAN;.;.;.	D	52;54;54;54;54;54;54;54	ENSP00000401957:E52D;ENSP00000357149:E54D;ENSP00000357147:E54D;ENSP00000357145:E54D;ENSP00000357142:E54D;ENSP00000357143:E54D;ENSP00000357138:E54D;ENSP00000357137:E54D	ENSP00000357137:E54D	E	+	3	2	CD1E	156590894	0.000000	0.05858	0.268000	0.24571	0.065000	0.16274	-0.451000	0.06795	0.556000	0.29098	0.563000	0.77884	GAG		0.572	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		16	46	0	0	0	0	16	46				
SLAMF6	114836	broad.mit.edu	37	1	160460424	160460424	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:160460424C>A	ENST00000368057.3	-	4	758	c.698G>T	c.(697-699)gGg>gTg	p.G233V	SLAMF6_ENST00000368059.3_Missense_Mutation_p.G233V|SLAMF6_ENST00000368055.1_Missense_Mutation_p.G122V			Q96DU3	SLAF6_HUMAN	SLAM family member 6	233						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TATGCATATCCCAGAAACCAT	0.368																																						uc001fwe.1		NA																	0				ovary(1)|skin(1)	2						c.(697-699)GGG>GTG		activating NK receptor precursor							92.0	91.0	91.0					1																	160460424		2203	4300	6503	SO:0001583	missense	114836					integral to membrane|plasma membrane	receptor activity	g.chr1:160460424C>A	AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.698G>T	1.37:g.160460424C>A	ENSP00000357036:p.Gly233Val					SLAMF6_uc001fwd.1_Missense_Mutation_p.G233V|SLAMF6_uc010pjh.1_Missense_Mutation_p.G184V|SLAMF6_uc010pji.1_Missense_Mutation_p.G122V|SLAMF6_uc010pjj.1_Missense_Mutation_p.G122V	p.G233V	NM_052931	NP_443163	Q96DU3	SLAF6_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0923)		4	758	-	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		233			Helical; (Potential).		A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Missense_Mutation	SNP	ENST00000368057.3	37	c.698G>T	CCDS53394.1	.	.	.	.	.	.	.	.	.	.	C	3.358	-0.131124	0.06753	.	.	ENSG00000162739	ENST00000368059;ENST00000368057;ENST00000368055	T;T;T	0.52057	0.68;0.68;0.68	4.44	-3.21	0.05140	.	1.389860	0.04751	N	0.424564	T	0.08313	0.0207	N	0.19112	0.55	0.09310	N	0.999998	B;B;B;B;B	0.33637	0.001;0.073;0.42;0.009;0.009	B;B;B;B;B	0.25506	0.0;0.018;0.061;0.008;0.008	T	0.05818	-1.0862	10	0.13853	T	0.58	5.4417	4.8137	0.13356	0.3901:0.3218:0.2881:0.0	.	122;122;184;233;233	B7Z6A7;Q5TAS6;B4E1U5;Q96DU3;B2R8X8	.;.;.;SLAF6_HUMAN;.	V	233;233;122	ENSP00000357038:G233V;ENSP00000357036:G233V;ENSP00000357034:G122V	ENSP00000357034:G122V	G	-	2	0	SLAMF6	158727048	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.275000	0.08525	-0.406000	0.07588	-0.262000	0.10625	GGG		0.368	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931		19	39	1	0	5.35e-07	6.39e-07	19	39				
MROH9	80133	broad.mit.edu	37	1	170941012	170941012	+	Silent	SNP	C	C	A	rs377212983		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:170941012C>A	ENST00000367758.3	+	8	703	c.604C>A	c.(604-606)Cgg>Agg	p.R202R	MROH9_ENST00000367759.4_Silent_p.R202R	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	202																	CTACATTGCACGGTGTCAGAA	0.458																																						uc001ghg.2		NA																	0				pancreas(1)	1						c.(604-606)CGG>AGG		hypothetical protein LOC80133 isoform 2							279.0	248.0	258.0					1																	170941012		1961	4161	6122	SO:0001819	synonymous_variant	80133						binding	g.chr1:170941012C>A	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.604C>A	1.37:g.170941012C>A						C1orf129_uc009wvy.2_Silent_p.R9R|C1orf129_uc010plz.1_Silent_p.R202R	p.R202R	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN			8	734	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		202					A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Silent	SNP	ENST00000367758.3	37	c.604C>A	CCDS41436.1																																																																																				0.458	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		51	135	1	0	3.19e-20	4.57e-20	51	135				
TNR	7143	broad.mit.edu	37	1	175375752	175375752	+	Silent	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:175375752C>A	ENST00000367674.2	-	3	807	c.99G>T	c.(97-99)ctG>ctT	p.L33L	TNR_ENST00000263525.2_Silent_p.L33L			Q92752	TENR_HUMAN	tenascin R	33					associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGGTGACCTCCAGCTGACACT	0.537																																						uc001gkp.1		NA																	0				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(97-99)CTG>CTT		tenascin R precursor							208.0	181.0	190.0					1																	175375752		2203	4300	6503	SO:0001819	synonymous_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175375752C>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.99G>T	1.37:g.175375752C>A						TNR_uc009wwu.1_Silent_p.L33L|TNR_uc010pmz.1_Silent_p.L33L	p.L33L	NM_003285	NP_003276	Q92752	TENR_HUMAN			1	180	-	Renal(580;0.146)		33					C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	c.99G>T	CCDS1318.1																																																																																				0.537	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		53	72	1	0	1.47e-25	2.15e-25	53	72				
QSOX1	5768	broad.mit.edu	37	1	180151443	180151443	+	Silent	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:180151443C>A	ENST00000367602.3	+	6	815	c.741C>A	c.(739-741)tcC>tcA	p.S247S	QSOX1_ENST00000367600.5_Silent_p.S247S			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	247					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GCTCTGTCTCCCGAGTCCCCG	0.602																																						uc001gnz.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(739-741)TCC>TCA		quiescin Q6 sulfhydryl oxidase 1 isoform a							280.0	222.0	242.0					1																	180151443		2203	4300	6503	SO:0001819	synonymous_variant	5768				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity	g.chr1:180151443C>A	U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"""quiescin Q6"""	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.741C>A	1.37:g.180151443C>A						QSOX1_uc001gny.2_Silent_p.S247S|QSOX1_uc001goa.2_Silent_p.S247S|QSOX1_uc001gob.1_RNA	p.S247S	NM_002826	NP_002817	O00391	QSOX1_HUMAN			6	816	+			247					Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Silent	SNP	ENST00000367602.3	37	c.741C>A	CCDS1337.1																																																																																				0.602	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085289.1	NM_002826		28	69	1	0	1.4e-14	1.93e-14	28	69				
FAM129A	116496	broad.mit.edu	37	1	184868311	184868311	+	Splice_Site	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:184868311C>T	ENST00000367511.3	-	2	380		c.e2+1			NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A						negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CCATGGCTTACCTTGGTCTTC	0.393																																						uc001gra.2		NA																	0				ovary(3)|skin(1)	4						c.e2+1		niban protein isoform 2							177.0	159.0	165.0					1																	184868311		2203	4300	6503	SO:0001630	splice_region_variant	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184868311C>T	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.186+1G>A	1.37:g.184868311C>T						FAM129A_uc009wyh.1_Splice_Site_p.K62_splice|FAM129A_uc009wyi.1_Splice_Site	p.K62_splice	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN			2	380	-								Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Splice_Site	SNP	ENST00000367511.3	37	c.186_splice	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473667	0.63737	.	.	ENSG00000135842	ENST00000367511	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5391	0.84380	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM129A	183134934	1.000000	0.71417	0.999000	0.59377	0.627000	0.37826	4.572000	0.60886	2.635000	0.89317	0.650000	0.86243	.		0.393	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1		Intron	6	81	0	0	0	0	6	81				
PRG4	10216	broad.mit.edu	37	1	186276244	186276244	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:186276244A>G	ENST00000445192.2	+	7	1438	c.1393A>G	c.(1393-1395)Aag>Gag	p.K465E	PRG4_ENST00000367483.4_Missense_Mutation_p.K424E|PRG4_ENST00000367486.3_Missense_Mutation_p.K422E|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.K372E	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	465	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCACTCCCAAGGAGCCTGC	0.657																																						uc001gru.3		NA																	0				skin(1)	1						c.(1393-1395)AAG>GAG		proteoglycan 4 isoform A							86.0	95.0	92.0					1																	186276244		2203	4298	6501	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276244A>G	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1393A>G	1.37:g.186276244A>G	ENSP00000399679:p.Lys465Glu					PRG4_uc001grt.3_Missense_Mutation_p.K424E|PRG4_uc009wyl.2_Missense_Mutation_p.K372E|PRG4_uc009wym.2_Missense_Mutation_p.K331E|PRG4_uc010poo.1_Intron	p.K465E	NM_005807	NP_005798	Q92954	PRG4_HUMAN			7	1444	+			465			16; approximate.|59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1393A>G	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	8.772	0.926085	0.18056	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.05786	3.42;3.57;3.39;3.55	3.8	3.8	0.43715	.	0.693990	0.11843	N	0.524123	T	0.05914	0.0154	L	0.42245	1.32	0.20638	N	0.999871	B;B;B;B	0.28713	0.22;0.22;0.141;0.22	B;B;B;B	0.20184	0.028;0.028;0.012;0.028	T	0.33214	-0.9877	9	.	.	.	.	7.1551	0.25632	0.878:0.0:0.122:0.0	.	331;372;465;424	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	E	422;331;424;372;465	ENSP00000356456:K422E;ENSP00000356453:K424E;ENSP00000356455:K372E;ENSP00000399679:K465E	.	K	+	1	0	PRG4	184542867	0.000000	0.05858	0.010000	0.14722	0.041000	0.13682	0.476000	0.22180	1.516000	0.48900	0.335000	0.21663	AAG		0.657	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		7	33	0	0	0	0	7	33				
PTPRC	5788	broad.mit.edu	37	1	198687403	198687403	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:198687403T>G	ENST00000367376.2	+	14	1796	c.1625T>G	c.(1624-1626)cTt>cGt	p.L542R	PTPRC_ENST00000594404.1_Missense_Mutation_p.L381R|PTPRC_ENST00000352140.3_Missense_Mutation_p.L494R|PTPRC_ENST00000442510.2_Missense_Mutation_p.L544R|PTPRC_ENST00000348564.6_Missense_Mutation_p.L383R	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	542	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GTAAAAGATCTTCAATATTCA	0.343																																						uc001gur.1		NA																	0				breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(1624-1626)CTT>CGT		protein tyrosine phosphatase, receptor type, C							61.0	58.0	59.0					1																	198687403		2203	4300	6503	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198687403T>G	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1625T>G	1.37:g.198687403T>G	ENSP00000356346:p.Leu542Arg					PTPRC_uc001gus.1_Missense_Mutation_p.L494R|PTPRC_uc001gut.1_Missense_Mutation_p.L381R|PTPRC_uc009wzf.1_Missense_Mutation_p.L430R|PTPRC_uc010ppg.1_Missense_Mutation_p.L478R	p.L542R	NM_002838	NP_002829	P08575	PTPRC_HUMAN			14	1805	+			542			Extracellular (Potential).|Fibronectin type-III 2.		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.1625T>G		.	.	.	.	.	.	.	.	.	.	T	16.52	3.146133	0.57044	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	D	0.85171	-1.95	4.52	4.52	0.55395	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.44285	D	0.000464	D	0.91942	0.7448	M	0.85197	2.74	0.40360	D	0.979233	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.92954	0.6383	10	0.87932	D	0	.	10.4026	0.44239	0.0:0.0:0.0:1.0	.	478;478;383;494;542	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	R	544;478;494;494;428;542;476;381	ENSP00000193532:L494R	ENSP00000306782:L381R	L	+	2	0	PTPRC	196954026	0.892000	0.30473	0.190000	0.23270	0.015000	0.08874	3.724000	0.54962	2.032000	0.59987	0.477000	0.44152	CTT		0.343	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				9	8	0	0	0	0	9	8				
PTPRC	5788	broad.mit.edu	37	1	198713288	198713288	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:198713288A>T	ENST00000367376.2	+	26	2968	c.2797A>T	c.(2797-2799)Agg>Tgg	p.R933W	PTPRC_ENST00000594404.1_Missense_Mutation_p.R772W|PTPRC_ENST00000352140.3_Missense_Mutation_p.R885W|PTPRC_ENST00000442510.2_Missense_Mutation_p.R935W|PTPRC_ENST00000348564.6_Missense_Mutation_p.R774W	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	933					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CATGAAGAAAAGGGATCCACC	0.373																																						uc001gur.1		NA																	0				breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(2797-2799)AGG>TGG		protein tyrosine phosphatase, receptor type, C							85.0	80.0	82.0					1																	198713288		2202	4298	6500	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198713288A>T	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2797A>T	1.37:g.198713288A>T	ENSP00000356346:p.Arg933Trp					PTPRC_uc001gus.1_Missense_Mutation_p.R885W|PTPRC_uc001gut.1_Missense_Mutation_p.R772W	p.R933W	NM_002838	NP_002829	P08575	PTPRC_HUMAN			26	2977	+			933			Cytoplasmic (Potential).		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.2797A>T		.	.	.	.	.	.	.	.	.	.	A	18.41	3.618679	0.66787	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	T	0.13657	2.57	5.78	5.78	0.91487	.	0.113874	0.39475	N	0.001352	T	0.29620	0.0739	L	0.59436	1.845	0.28438	N	0.916959	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.75484	0.981;0.986;0.986	T	0.24404	-1.0161	10	0.72032	D	0.01	.	7.2721	0.26262	0.7806:0.1466:0.0728:0.0	.	774;885;933	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	W	935;885;933;772	ENSP00000193532:R885W	ENSP00000306782:R772W	R	+	1	2	PTPRC	196979911	0.998000	0.40836	0.995000	0.50966	0.956000	0.61745	2.058000	0.41374	2.199000	0.70637	0.519000	0.50382	AGG		0.373	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				10	26	0	0	0	0	10	26				
IPO9	55705	broad.mit.edu	37	1	201821282	201821282	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:201821282A>G	ENST00000361565.4	+	5	634	c.565A>G	c.(565-567)Att>Gtt	p.I189V	IPO9_ENST00000464348.1_3'UTR	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	189					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						TGCTCCTGTCATTCTCCCAGA	0.403																																						uc001gwz.2		NA																	0				ovary(2)	2						c.(565-567)ATT>GTT		importin 9							106.0	103.0	104.0					1																	201821282		2203	4300	6503	SO:0001583	missense	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201821282A>G	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.565A>G	1.37:g.201821282A>G	ENSP00000354742:p.Ile189Val						p.I189V	NM_018085	NP_060555	Q96P70	IPO9_HUMAN			5	615	+			189					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	ENST00000361565.4	37	c.565A>G	CCDS1415.1	.	.	.	.	.	.	.	.	.	.	A	19.31	3.803653	0.70682	.	.	ENSG00000198700	ENST00000361565	T	0.69306	-0.39	5.93	5.93	0.95920	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.54159	0.1841	L	0.39397	1.21	0.80722	D	1	P	0.39391	0.671	B	0.32393	0.145	T	0.54450	-0.8292	10	0.25106	T	0.35	-4.5641	14.331	0.66556	1.0:0.0:0.0:0.0	.	189	Q96P70	IPO9_HUMAN	V	189	ENSP00000354742:I189V	ENSP00000354742:I189V	I	+	1	0	IPO9	200087905	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.192000	0.94947	2.268000	0.75426	0.455000	0.32223	ATT		0.403	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		10	41	0	0	0	0	10	41				
CR1	1378	broad.mit.edu	37	1	207739242	207739242	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:207739242G>T	ENST00000367049.4	+	24	3926	c.3926G>T	c.(3925-3927)tGg>tTg	p.W1309L	CR1_ENST00000367051.1_Missense_Mutation_p.W859L|CR1_ENST00000367052.1_Intron|CR1_ENST00000400960.2_Missense_Mutation_p.W859L|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367053.1_Missense_Mutation_p.W859L	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	859	Sushi 20. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GAAAGCCTTTGGAATAGCAGT	0.433																																						uc001hfy.2		NA																	0				ovary(3)	3						c.(2575-2577)TGG>TTG		complement receptor 1 isoform F precursor							242.0	217.0	225.0					1																	207739242		1856	4116	5972	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207739242G>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.3926G>T	1.37:g.207739242G>T	ENSP00000356016:p.Trp1309Leu					CR1_uc009xcl.1_Intron|CR1_uc001hfx.2_Missense_Mutation_p.W1309L|CR1_uc009xck.1_Intron	p.W859L	NM_000573	NP_000564	P17927	CR1_HUMAN			16	2716	+			859			Extracellular (Potential).|Sushi 13.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.2576G>T	CCDS44308.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	21.9|21.9	4.221845|4.221845	0.79464|0.79464	.|.	.|.	ENSG00000203710|ENSG00000203710	ENST00000529814|ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	.|T;T;T;T	.|0.79653	.|-1.29;-1.29;-1.29;-1.29	2.72|2.72	2.72|2.72	0.32119|0.32119	.|Complement control module (2);Sushi/SCR/CCP (3);	.|.	.|.	.|.	.|.	.|D	.|0.93167	.|0.7824	H|H	0.99312|0.99312	4.51|4.51	0.25904|0.25904	N|N	0.983318|0.983318	.|D;D	.|0.65815	.|0.987;0.995	.|D;D	.|0.78314	.|0.991;0.973	.|D	.|0.83885	.|0.0281	.|9	.|0.66056	.|D	.|0.02	.|.	9.1508|9.1508	0.36962|0.36962	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|859;1309	.|P17927;E9PDY4	.|CR1_HUMAN;.	X|L	385|859;859;859;1309	.|ENSP00000356018:W859L;ENSP00000356020:W859L;ENSP00000383744:W859L;ENSP00000356016:W1309L	.|ENSP00000356016:W1309L	G|W	+|+	1|2	0|0	CR1|CR1	205805865|205805865	1.000000|1.000000	0.71417|0.71417	0.785000|0.785000	0.31869|0.31869	0.816000|0.816000	0.46133|0.46133	3.583000|3.583000	0.53928|0.53928	1.874000|1.874000	0.54306|0.54306	0.306000|0.306000	0.20318|0.20318	GGA|TGG		0.433	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		13	57	1	0	6.32e-08	7.79e-08	13	57				
HIST3H3	8290	broad.mit.edu	37	1	228612628	228612628	+	Silent	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:228612628C>A	ENST00000366696.1	-	1	398	c.399G>T	c.(397-399)ggG>ggT	p.G133G		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	133					telomere maintenance (GO:0000723)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				AGGCCCGCTCCCCGCGGATAC	0.587																																						uc001hsx.1		NA																	0					0						c.(397-399)GGG>GGT		histone cluster 3, H3							64.0	58.0	60.0					1																	228612628		2203	4300	6503	SO:0001819	synonymous_variant	8290				nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr1:228612628C>A	Z49861	CCDS1572.1	1q42.13	2012-09-19	2006-10-11	2003-02-21	ENSG00000168148	ENSG00000168148		"""Histones / Replication-dependent"""	4778	protein-coding gene	gene with protein product		602820	"""H3 histone family, member T"", ""histone 3, H3"""	H3FT		8834248, 12408966	Standard	NM_003493		Approved	H3t, H3/g, H3.4	uc001hsx.1	Q16695	OTTHUMG00000040044	ENST00000366696.1:c.399G>T	1.37:g.228612628C>A							p.G133G	NM_003493	NP_003484	Q16695	H31T_HUMAN			1	399	-		Prostate(94;0.0724)	133					B2R5K3|Q6FGU4	Silent	SNP	ENST00000366696.1	37	c.399G>T	CCDS1572.1																																																																																				0.587	HIST3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096595.2	NM_003493		16	23	1	0	3.33e-07	4e-07	16	23				
KCNK1	3775	broad.mit.edu	37	1	233750265	233750265	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:233750265C>T	ENST00000366621.3	+	1	516	c.348C>T	c.(346-348)tcC>tcT	p.S116S		NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	116					potassium ion transport (GO:0006813)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)	CCGTGCTCTCCACCACAGGTA	0.706																																						uc010pxo.1		NA																	0				central_nervous_system(1)	1						c.(346-348)TCC>TCT		potassium channel, subfamily K, member 1	Ibutilide(DB00308)|Quinidine(DB00908)						24.0	26.0	25.0					1																	233750265		2203	4300	6503	SO:0001819	synonymous_variant	3775					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr1:233750265C>T	U33632	CCDS1599.1	1q42-q43	2012-03-07			ENSG00000135750	ENSG00000135750		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6272	protein-coding gene	gene with protein product		601745				8661042, 16382106	Standard	NM_002245		Approved	K2p1.1, DPK, TWIK-1	uc010pxo.1	O00180	OTTHUMG00000037923	ENST00000366621.3:c.348C>T	1.37:g.233750265C>T							p.S116S	NM_002245	NP_002236	O00180	KCNK1_HUMAN			1	516	+		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)	116					Q13307|Q5T5E8	Silent	SNP	ENST00000366621.3	37	c.348C>T	CCDS1599.1																																																																																				0.706	KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092565.1	NM_002245		3	10	0	0	0	0	3	10				
CHML	1122	broad.mit.edu	37	1	241798800	241798800	+	Missense_Mutation	SNP	C	C	G	rs371695400		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:241798800C>G	ENST00000366553.1	-	1	432	c.269G>C	c.(268-270)cGc>cCc	p.R90P	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	90					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			ATCCTTCTTGCGAAGAGTGAT	0.438																																						uc001hzd.2		NA																	0				ovary(4)|skin(2)	6						c.(268-270)CGC>CCC		choroideremia-like Rab escort protein 2							228.0	223.0	225.0					1																	241798800		2203	4299	6502	SO:0001583	missense	1122				intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chr1:241798800C>G	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.269G>C	1.37:g.241798800C>G	ENSP00000355511:p.Arg90Pro					OPN3_uc001hza.2_Intron|OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron	p.R90P	NM_001821	NP_001812	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		1	433	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	90					B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	ENST00000366553.1	37	c.269G>C	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	C	7.823	0.718247	0.15372	.	.	ENSG00000203668	ENST00000366553	T	0.57907	0.37	4.24	3.32	0.38043	.	0.681673	0.13542	U	0.380139	T	0.35008	0.0917	.	.	.	0.20307	N	0.999914	B	0.11235	0.004	B	0.10450	0.005	T	0.16012	-1.0417	9	0.22706	T	0.39	0.003	8.0383	0.30506	0.0:0.8911:0.0:0.1089	.	90	P26374	RAE2_HUMAN	P	90	ENSP00000355511:R90P	ENSP00000355511:R90P	R	-	2	0	CHML	239865423	0.000000	0.05858	0.659000	0.29680	0.965000	0.64279	-0.471000	0.06631	1.364000	0.46038	0.650000	0.86243	CGC		0.438	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821		82	148	0	0	0	0	82	148				
NLRP3	114548	broad.mit.edu	37	1	247593033	247593033	+	Missense_Mutation	SNP	C	C	T	rs187819424		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:247593033C>T	ENST00000336119.3	+	4	3049	c.2303C>T	c.(2302-2304)cCt>cTt	p.P768L	NLRP3_ENST00000391827.2_Intron|NLRP3_ENST00000391828.3_Missense_Mutation_p.P768L|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000366496.2_Missense_Mutation_p.P768L|NLRP3_ENST00000366497.2_Missense_Mutation_p.P768L	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	768					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTCCAGCATCCTGGCTGTAAC	0.498													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15448	0.0		0.0	False		,,,				2504	0.0					uc001icr.2		NA																	0				lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(2302-2304)CCT>CTT		NLR family, pyrin domain containing 3 isoform a							93.0	86.0	88.0					1																	247593033		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247593033C>T	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2303C>T	1.37:g.247593033C>T	ENSP00000337383:p.Pro768Leu					NLRP3_uc001ics.2_Missense_Mutation_p.P768L|NLRP3_uc001icu.2_Missense_Mutation_p.P768L|NLRP3_uc001icw.2_Intron|NLRP3_uc001icv.2_Intron|NLRP3_uc010pyw.1_Missense_Mutation_p.P766L	p.P768L	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		6	2441	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	768					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.2303C>T	CCDS1632.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.47	1.946944	0.34377	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000366496	D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87	4.21	4.21	0.49690	.	0.000000	0.43110	D	0.000607	D	0.94225	0.8146	M	0.81614	2.55	0.29145	N	0.878732	P;B;P	0.46656	0.882;0.34;0.753	P;B;B	0.60949	0.881;0.343;0.39	D	0.90191	0.4250	10	0.62326	D	0.03	.	12.3474	0.55128	0.0:1.0:0.0:0.0	.	768;768;768	B7ZKS9;Q96P20-5;Q96P20	.;.;NALP3_HUMAN	L	768	ENSP00000375704:P768L;ENSP00000355453:P768L;ENSP00000337383:P768L;ENSP00000355452:P768L	ENSP00000337383:P768L	P	+	2	0	NLRP3	245659656	0.176000	0.23096	0.625000	0.29200	0.146000	0.21551	2.930000	0.48924	2.377000	0.81083	0.536000	0.68110	CCT		0.498	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		11	42	0	0	0	0	11	42				
OR2W5	441932	broad.mit.edu	37	1	247655019	247655019	+	RNA	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:247655019C>A	ENST00000522351.1	+	0	650							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CTGGTAGAAGCGATTCACCTT	0.582																																						uc001icz.1		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(589-591)GCG>GAG		olfactory receptor, family 2, subfamily W,							134.0	137.0	136.0					1																	247655019		2203	4300	6503			441932				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247655019C>A			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247655019C>A							p.A197E	NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	590	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	197					B9EH85	Missense_Mutation	SNP	ENST00000522351.1	37	c.590C>A																																																																																					0.582	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		24	91	1	0	7.38e-10	9.56e-10	24	91				
OR2T12	127064	broad.mit.edu	37	1	248458823	248458823	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:248458823T>C	ENST00000317996.1	-	1	57	c.58A>G	c.(58-60)Aga>Gga	p.R20G		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TGGTGGGCTCTGGTGTGGTTA	0.468																																						uc010pzj.1		NA																	0				skin(2)|ovary(1)	3						c.(58-60)AGA>GGA		olfactory receptor, family 2, subfamily T,							90.0	88.0	89.0					1																	248458823		2203	4300	6503	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458823T>C	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.58A>G	1.37:g.248458823T>C	ENSP00000324583:p.Arg20Gly						p.R20G	NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	58	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		20			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000317996.1	37	c.58A>G	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	T	4.470	0.087043	0.08583	.	.	ENSG00000177201	ENST00000317996	T	0.00428	7.44	1.56	-3.13	0.05266	.	1.349610	0.05252	N	0.514152	T	0.00144	0.0004	N	0.02391	-0.57	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22800	-1.0206	10	0.25106	T	0.35	.	3.8679	0.09024	0.0:0.274:0.255:0.471	.	20	Q8NG77	O2T12_HUMAN	G	20	ENSP00000324583:R20G	ENSP00000324583:R20G	R	-	1	2	OR2T12	246525446	0.000000	0.05858	0.000000	0.03702	0.114000	0.19823	-1.864000	0.01650	-0.453000	0.07076	0.155000	0.16302	AGA		0.468	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		31	47	0	0	0	0	31	47				
OR2T4	127074	broad.mit.edu	37	1	248525119	248525119	+	Silent	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:248525119T>C	ENST00000366475.1	+	1	237	c.237T>C	c.(235-237)ctT>ctC	p.L79L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCTGATCCTTCTGATACACT	0.468																																						uc001ieh.1		NA																	0				central_nervous_system(1)	1						c.(235-237)CTT>CTC		olfactory receptor, family 2, subfamily T,							439.0	312.0	355.0					1																	248525119		2203	4300	6503	SO:0001819	synonymous_variant	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525119T>C	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.237T>C	1.37:g.248525119T>C							p.L79L	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	237	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		79			Helical; Name=1; (Potential).		Q6IEZ8	Silent	SNP	ENST00000366475.1	37	c.237T>C	CCDS31113.1																																																																																				0.468	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		86	108	0	0	0	0	86	108				
OR2T4	127074	broad.mit.edu	37	1	248525375	248525375	+	Missense_Mutation	SNP	C	C	G	rs369287469		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr1:248525375C>G	ENST00000366475.1	+	1	493	c.493C>G	c.(493-495)Cct>Gct	p.P165A		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTCCGTTACCCTGTCCTCAT	0.522																																						uc001ieh.1		NA																	0				central_nervous_system(1)	1						c.(493-495)CCT>GCT		olfactory receptor, family 2, subfamily T,							271.0	236.0	248.0					1																	248525375		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525375C>G	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.493C>G	1.37:g.248525375C>G	ENSP00000355431:p.Pro165Ala						p.P165A	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	493	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		165			Cytoplasmic (Potential).		Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.493C>G	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	C	4.872	0.162017	0.09287	.	.	ENSG00000196944	ENST00000366475	T	0.02258	4.37	3.48	1.08	0.20341	GPCR, rhodopsin-like superfamily (1);	0.149266	0.31438	N	0.007660	T	0.02156	0.0067	L	0.38531	1.155	0.09310	N	0.999996	B	0.22800	0.075	B	0.26614	0.071	T	0.41538	-0.9503	10	0.56958	D	0.05	.	6.3001	0.21107	0.2636:0.3639:0.3726:0.0	.	165	Q8NH00	OR2T4_HUMAN	A	165	ENSP00000355431:P165A	ENSP00000355431:P165A	P	+	1	0	OR2T4	246591998	0.000000	0.05858	0.211000	0.23655	0.288000	0.27193	-4.393000	0.00241	1.469000	0.48083	0.485000	0.47835	CCT		0.522	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		33	130	0	0	0	0	33	130				
ITGA8	8516	broad.mit.edu	37	10	15649744	15649744	+	Missense_Mutation	SNP	G	G	T	rs375776603		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:15649744G>T	ENST00000378076.3	-	17	2049	c.1696C>A	c.(1696-1698)Cgc>Agc	p.R566S		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	566					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GGGAAGACGCGATGAGCCTGA	0.453																																						uc001ioc.1		NA																	0				ovary(3)|lung(3)	6						c.(1696-1698)CGC>AGC		integrin, alpha 8 precursor							171.0	168.0	169.0					10																	15649744		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15649744G>T	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1696C>A	10.37:g.15649744G>T	ENSP00000367316:p.Arg566Ser					ITGA8_uc010qcb.1_Missense_Mutation_p.R551S	p.R566S	NM_003638	NP_003629	P53708	ITA8_HUMAN			17	1696	-			566			Extracellular (Potential).		B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.1696C>A	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.283045	0.23392	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.42900	0.96	5.84	1.86	0.25419	Integrin alpha-2 (1);	0.627621	0.17909	N	0.157904	T	0.36496	0.0969	N	0.25647	0.755	0.09310	N	1	P;P	0.37594	0.546;0.601	B;P	0.47075	0.4;0.536	T	0.26121	-1.0112	10	0.21014	T	0.42	.	11.2187	0.48842	0.2536:0.0:0.7464:0.0	.	551;566	F5H818;P53708	.;ITA8_HUMAN	S	566;551	ENSP00000367316:R566S	ENSP00000367316:R566S	R	-	1	0	ITGA8	15689750	0.835000	0.29415	0.026000	0.17262	0.002000	0.02628	3.106000	0.50322	0.372000	0.24591	0.591000	0.81541	CGC		0.453	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		123	65	1	0	4.51e-65	6.74e-65	123	65				
ITGA8	8516	broad.mit.edu	37	10	15700997	15700997	+	Splice_Site	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:15700997C>T	ENST00000378076.3	-	10	1302		c.e10+1			NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8						brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AATGTCTCTACCTGTTCTCCC	0.313																																						uc001ioc.1		NA																	0				ovary(3)|lung(3)	6						c.e10+1		integrin, alpha 8 precursor							46.0	49.0	48.0					10																	15700997		2202	4298	6500	SO:0001630	splice_region_variant	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15700997C>T	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.948+1G>A	10.37:g.15700997C>T						ITGA8_uc010qcb.1_Splice_Site_p.Q301_splice	p.Q316_splice	NM_003638	NP_003629	P53708	ITA8_HUMAN			10	948	-								B0YJ31|Q5VX94	Splice_Site	SNP	ENST00000378076.3	37	c.948_splice	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.474929	0.63737	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8976	0.79346	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITGA8	15741003	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	5.420000	0.66441	2.531000	0.85337	0.563000	0.77884	.		0.313	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638	Intron	13	11	0	0	0	0	13	11				
BICC1	80114	broad.mit.edu	37	10	60562844	60562844	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:60562844G>A	ENST00000373886.3	+	15	2027	c.2023G>A	c.(2023-2025)Gac>Aac	p.D675N	BICC1_ENST00000263103.1_Missense_Mutation_p.D301N	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	675					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						CAGCAGCACTGACAGGTTGCT	0.473																																						uc001jki.1		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(2023-2025)GAC>AAC		bicaudal C homolog 1							63.0	60.0	61.0					10																	60562844		2203	4300	6503	SO:0001583	missense	80114				multicellular organismal development		RNA binding	g.chr10:60562844G>A	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.2023G>A	10.37:g.60562844G>A	ENSP00000362993:p.Asp675Asn					BICC1_uc001jkj.1_Missense_Mutation_p.D316N	p.D675N	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN			15	2023	+			675						Missense_Mutation	SNP	ENST00000373886.3	37	c.2023G>A	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018531	0.75275	.	.	ENSG00000122870	ENST00000373886;ENST00000263103	T;T	0.49139	1.63;0.79	5.96	5.96	0.96718	.	0.187513	0.64402	D	0.000018	T	0.39708	0.1088	N	0.19112	0.55	0.58432	D	0.999998	P;B	0.42871	0.792;0.321	B;B	0.40329	0.326;0.101	T	0.21724	-1.0237	10	0.44086	T	0.13	-22.0467	20.4008	0.98991	0.0:0.0:1.0:0.0	.	595;675	E7EU62;Q9H694	.;BICC1_HUMAN	N	675;301	ENSP00000362993:D675N;ENSP00000263103:D301N	ENSP00000263103:D301N	D	+	1	0	BICC1	60232850	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.296000	0.96104	2.826000	0.97356	0.655000	0.94253	GAC		0.473	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		9	13	0	0	0	0	9	13				
NPFFR1	64106	broad.mit.edu	37	10	72020482	72020482	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:72020482G>A	ENST00000277942.6	-	3	335	c.336C>T	c.(334-336)gaC>gaT	p.D112D		NM_022146.4	NP_071429.1	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	112					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			endometrium(2)|lung(1)	3						ATGTGGCATTGTCGAAGGGCC	0.577																																						uc010qjk.1		NA																	0					0						c.(328-330)GAC>GAT		neuropeptide FF receptor 1							40.0	46.0	44.0					10																	72020482		2040	4193	6233	SO:0001819	synonymous_variant	64106					integral to membrane|plasma membrane	neuropeptide receptor activity	g.chr10:72020482G>A	AB040104	CCDS53539.1	10q21-q22	2012-08-10	2006-02-15	2006-02-15	ENSG00000148734	ENSG00000148734		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	17425	protein-coding gene	gene with protein product	"""neuropeptide FF 1"""	607448	"""G protein-coupled receptor 147"""	GPR147		11024015	Standard	NM_022146		Approved	OT7T022, NPFF1R1	uc021psj.1	Q9GZQ6	OTTHUMG00000018404	ENST00000277942.6:c.336C>T	10.37:g.72020482G>A							p.D110D	NM_022146	NP_071429	Q9GZQ6	NPFF1_HUMAN			2	336	-			112			Extracellular (Potential).		A2RRF0|Q8NGR0|Q96RN3	Silent	SNP	ENST00000277942.6	37	c.330C>T	CCDS53539.1																																																																																				0.577	NPFFR1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048504.2	NM_022146		5	2	0	0	0	0	5	2				
ADAMTS14	140766	broad.mit.edu	37	10	72468365	72468365	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:72468365C>G	ENST00000373207.1	+	4	701	c.701C>G	c.(700-702)cCc>cGc	p.P234R	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.P234R	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	234					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GGAGACCTTCCCAACCTGCTG	0.637																																						uc001jrh.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(700-702)CCC>CGC		ADAM metallopeptidase with thrombospondin type 1							70.0	58.0	62.0					10																	72468365		2203	4300	6503	SO:0001583	missense	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72468365C>G	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.701C>G	10.37:g.72468365C>G	ENSP00000362303:p.Pro234Arg					ADAMTS14_uc001jrg.2_Missense_Mutation_p.P234R	p.P234R	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN			4	701	+			234					Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	c.701C>G	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.025067	0.54683	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.62232	0.04;0.06	4.61	4.61	0.57282	.	0.000000	0.64402	D	0.000001	T	0.67896	0.2942	M	0.64997	1.995	0.46631	D	0.999131	P;P	0.41710	0.585;0.76	B;P	0.48141	0.365;0.568	T	0.65973	-0.6038	10	0.28530	T	0.3	.	17.213	0.86935	0.0:1.0:0.0:0.0	.	234;234	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	R	234	ENSP00000362304:P234R;ENSP00000362303:P234R	ENSP00000362303:P234R	P	+	2	0	ADAMTS14	72138371	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.622000	0.83099	2.390000	0.81377	0.655000	0.94253	CCC		0.637	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		10	32	0	0	0	0	10	32				
UNC5B	219699	broad.mit.edu	37	10	73044575	73044575	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:73044575T>G	ENST00000335350.6	+	3	819	c.403T>G	c.(403-405)Tcc>Gcc	p.S135A	UNC5B_ENST00000373192.4_Missense_Mutation_p.S135A	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	135	Ig-like.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GGCCTGGAGCTCCGCGGGCAC	0.677																																						uc001jro.2		NA																	0				ovary(2)|lung(1)	3						c.(403-405)TCC>GCC		unc-5 homolog B precursor							84.0	78.0	80.0					10																	73044575		2203	4300	6503	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73044575T>G	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.403T>G	10.37:g.73044575T>G	ENSP00000334329:p.Ser135Ala					UNC5B_uc001jrp.2_Missense_Mutation_p.S135A	p.S135A	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN			3	848	+			135			Ig-like.|Extracellular (Potential).		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.403T>G	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	T	17.71	3.457219	0.63401	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.23754	1.89;1.89	4.82	4.82	0.62117	Immunoglobulin-like fold (1);	0.057528	0.64402	D	0.000001	T	0.45054	0.1323	L	0.53780	1.695	0.58432	D	0.999999	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.986	T	0.29971	-0.9994	10	0.39692	T	0.17	-10.6186	14.3846	0.66934	0.0:0.0:0.0:1.0	.	135;135	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	A	135	ENSP00000334329:S135A;ENSP00000362288:S135A	ENSP00000334329:S135A	S	+	1	0	UNC5B	72714581	1.000000	0.71417	0.975000	0.42487	0.943000	0.58893	6.186000	0.72026	1.791000	0.52520	0.454000	0.30748	TCC		0.677	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		18	42	0	0	0	0	18	42				
POLR3A	11128	broad.mit.edu	37	10	79764513	79764513	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:79764513C>T	ENST00000372371.3	-	16	2345	c.2208G>A	c.(2206-2208)ctG>ctA	p.L736L		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	736					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GCTGCTGCTGCAGCTTGCCCG	0.592																																						uc001jzn.2		NA																	0					0						c.(2206-2208)CTG>CTA		polymerase (RNA) III (DNA directed) polypeptide							69.0	59.0	62.0					10																	79764513		2203	4300	6503	SO:0001819	synonymous_variant	11128				innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79764513C>T	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.2208G>A	10.37:g.79764513C>T							p.L736L	NM_007055	NP_008986	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		16	2302	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		736					Q8IW34|Q8TCW5	Silent	SNP	ENST00000372371.3	37	c.2208G>A	CCDS7354.1																																																																																				0.592	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		7	15	0	0	0	0	7	15				
GLUD1	2746	broad.mit.edu	37	10	88854150	88854150	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:88854150T>C	ENST00000277865.4	-	1	473	c.377A>G	c.(376-378)gAc>gGc	p.D126G	GLUD1_ENST00000544149.1_5'Flank|GLUD1_ENST00000537649.1_5'Flank|FAM35A_ENST00000298784.1_5'Flank|FAM35A_ENST00000298786.4_5'Flank	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	126					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					Hexachlorophene(DB00756)	CCAGGAGCCGTCGTCGCGCCG	0.697																																						uc001keh.2		NA																	0					0						c.(376-378)GAC>GGC		glutamate dehydrogenase 1 precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						35.0	32.0	33.0					10																	88854150		2203	4293	6496	SO:0001583	missense	2746				glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding	g.chr10:88854150T>C	M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.377A>G	10.37:g.88854150T>C	ENSP00000277865:p.Asp126Gly					FAM35A_uc001kei.3_5'Flank|GLUD1_uc001keg.2_5'Flank|GLUD1_uc010qmp.1_5'Flank	p.D126G	NM_005271	NP_005262	P00367	DHE3_HUMAN			1	474	-			126					B3KV55|B4DGN5|Q5TBU3	Missense_Mutation	SNP	ENST00000277865.4	37	c.377A>G	CCDS7382.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.835074	0.91117	.	.	ENSG00000148672	ENST00000277865;ENST00000513510	D	0.96913	-4.17	4.25	4.25	0.50352	Glutamate/phenylalanine/leucine/valine dehydrogenase, dimerisation domain (1);	0.055459	0.64402	D	0.000001	D	0.97161	0.9072	M	0.87827	2.91	0.80722	D	1	B	0.32128	0.357	P	0.44673	0.457	D	0.97709	1.0189	10	0.59425	D	0.04	-4.1832	12.5015	0.55957	0.0:0.0:0.0:1.0	.	126	P00367	DHE3_HUMAN	G	126;58	ENSP00000277865:D126G	ENSP00000277865:D126G	D	-	2	0	GLUD1	88844130	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.466000	0.60148	1.782000	0.52362	0.379000	0.24179	GAC		0.697	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049188.1	NM_005271		7	17	0	0	0	0	7	17				
DPCD	25911	broad.mit.edu	37	10	103360557	103360557	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:103360557G>C	ENST00000370151.4	+	3	257	c.208G>C	c.(208-210)Gac>Cac	p.D70H	DPCD_ENST00000370147.1_Missense_Mutation_p.D70H|MIR3158-1_ENST00000583596.1_RNA|DPCD_ENST00000370148.2_Missense_Mutation_p.D70H	NM_015448.1	NP_056263.1	Q9BVM2	DPCD_HUMAN	deleted in primary ciliary dyskinesia homolog (mouse)	70					determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|lateral ventricle development (GO:0021670)|left/right pattern formation (GO:0060972)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)	nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5						TGAAGTAGGAGACCCAGCGCC	0.572																																						uc001ktn.2		NA																	0				skin(1)	1						c.(208-210)GAC>CAC		DPCD protein							79.0	76.0	77.0					10																	103360557		2203	4300	6503	SO:0001583	missense	25911						protein binding	g.chr10:103360557G>C		CCDS7514.1	10q24.32	2012-05-03			ENSG00000166171	ENSG00000166171			24542	protein-coding gene	gene with protein product						14630615	Standard	NM_015448		Approved	DKFZP566F084, RP11-529I10.4	uc001ktn.3	Q9BVM2	OTTHUMG00000018934	ENST00000370151.4:c.208G>C	10.37:g.103360557G>C	ENSP00000359170:p.Asp70His					hsa-mir-3158-1|MI0014186_5'Flank	p.D70H	NM_015448	NP_056263	Q9BVM2	DPCD_HUMAN			3	213	+			70					A8K289|Q6QNL3|Q8N5R1|Q9UFY6	Missense_Mutation	SNP	ENST00000370151.4	37	c.208G>C	CCDS7514.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846967	0.91277	.	.	ENSG00000166171	ENST00000370151;ENST00000370147;ENST00000370148;ENST00000370149;ENST00000434727	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	5.96	5.96	0.96718	.	0.209202	0.49305	D	0.000145	T	0.45736	0.1357	L	0.58101	1.795	0.54753	D	0.99998	P	0.40875	0.731	B	0.43274	0.414	T	0.42189	-0.9466	10	0.87932	D	0	-1.8505	20.4008	0.98991	0.0:0.0:1.0:0.0	.	70	Q9BVM2	DPCD_HUMAN	H	70;70;70;35;34	ENSP00000359170:D70H;ENSP00000359166:D70H;ENSP00000359167:D70H;ENSP00000403505:D34H	ENSP00000359166:D70H	D	+	1	0	DPCD	103350547	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	6.595000	0.74109	2.826000	0.97356	0.655000	0.94253	GAC		0.572	DPCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049958.2			14	30	0	0	0	0	14	30				
PDCD11	22984	broad.mit.edu	37	10	105174888	105174888	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:105174888G>T	ENST00000369797.3	+	12	1592	c.1498G>T	c.(1498-1500)Ggg>Tgg	p.G500W		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	500	S1 motif 5. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTACCACATCGGGGATGAGGT	0.547																																						uc001kwy.1		NA																	0				ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7						c.(1498-1500)GGG>TGG		programmed cell death 11							75.0	69.0	71.0					10																	105174888		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105174888G>T	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.1498G>T	10.37:g.105174888G>T	ENSP00000358812:p.Gly500Trp						p.G500W	NM_014976	NP_055791	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	12	1585	+		Colorectal(252;0.0747)|Breast(234;0.128)	500			S1 motif 5.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.1498G>T	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884942	0.51908	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.36340	1.26	5.35	4.39	0.52855	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (2);	0.095527	0.64402	D	0.000001	T	0.74306	0.3699	H	0.98178	4.165	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84676	0.0714	10	0.87932	D	0	-27.2354	16.6428	0.85130	0.0:0.1295:0.8705:0.0	.	500	Q14690	RRP5_HUMAN	W	500	ENSP00000358812:G500W	ENSP00000358812:G500W	G	+	1	0	PDCD11	105164878	1.000000	0.71417	0.951000	0.38953	0.012000	0.07955	7.461000	0.80834	2.681000	0.91329	0.643000	0.83706	GGG		0.547	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			7	18	1	0	5.69e-11	7.49e-11	7	18				
PNLIPRP3	119548	broad.mit.edu	37	10	118215284	118215284	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:118215284G>C	ENST00000369230.3	+	5	653	c.507G>C	c.(505-507)ttG>ttC	p.L169F		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	169					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		GCCACAGCTTGGGAGCACACC	0.423																																						uc001lcl.3		NA																	0				ovary(1)	1						c.(505-507)TTG>TTC		pancreatic lipase-related protein 3 precursor							81.0	70.0	74.0					10																	118215284		2203	4300	6503	SO:0001583	missense	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118215284G>C	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.507G>C	10.37:g.118215284G>C	ENSP00000358232:p.Leu169Phe						p.L169F	NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	5	608	+			169						Missense_Mutation	SNP	ENST00000369230.3	37	c.507G>C	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025679	0.54683	.	.	ENSG00000203837	ENST00000369230	D	0.93133	-3.17	4.8	1.38	0.22167	Lipase, N-terminal (1);	0.162263	0.27415	N	0.019478	D	0.96414	0.8830	M	0.93241	3.395	0.33453	D	0.583995	D	0.71674	0.998	D	0.73708	0.981	D	0.94572	0.7772	10	0.87932	D	0	.	4.7326	0.12972	0.3089:0.0:0.5131:0.1779	.	169	Q17RR3	LIPR3_HUMAN	F	169	ENSP00000358232:L169F	ENSP00000358232:L169F	L	+	3	2	PNLIPRP3	118205274	1.000000	0.71417	0.940000	0.37924	0.941000	0.58515	0.727000	0.25999	0.085000	0.17107	-0.150000	0.13652	TTG		0.423	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		3	30	0	0	0	0	3	30				
PNLIPRP1	5407	broad.mit.edu	37	10	118351331	118351331	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:118351331C>A	ENST00000528052.1	+	3	169	c.98C>A	c.(97-99)cCc>cAc	p.P33H	PNLIPRP1_ENST00000480870.2_3'UTR|PNLIPRP1_ENST00000442761.1_Missense_Mutation_p.P33H|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.P33H|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.P33H			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	33					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GACACTGAGCCCTGGGGCGGG	0.522																																						uc001lco.1		NA																	0				ovary(1)|breast(1)	2						c.(97-99)CCC>CAC		pancreatic lipase-related protein 1 precursor							114.0	122.0	119.0					10																	118351331		2203	4300	6503	SO:0001583	missense	5407				lipid metabolic process		calcium ion binding|triglyceride lipase activity	g.chr10:118351331C>A	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.98C>A	10.37:g.118351331C>A	ENSP00000433933:p.Pro33His					PNLIPRP1_uc001lcp.2_Missense_Mutation_p.P33H|PNLIPRP1_uc001lcn.2_Missense_Mutation_p.P33H|PNLIPRP1_uc009xys.1_RNA	p.P33H	NM_006229	NP_006220	P54315	LIPR1_HUMAN		all cancers(201;0.0161)	3	116	+			33					Q68D83|Q68DR6|Q8TAU2|Q9BS82	Missense_Mutation	SNP	ENST00000528052.1	37	c.98C>A	CCDS7595.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.616730	0.66672	.	.	ENSG00000187021	ENST00000531984;ENST00000358834;ENST00000528052;ENST00000442761;ENST00000530319;ENST00000527980;ENST00000471549;ENST00000534537	D;D;D;D;D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92	5.51	5.51	0.81932	Lipase, N-terminal (1);	0.000000	0.64402	D	0.000001	D	0.97328	0.9126	H	0.94222	3.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98241	1.0488	10	0.87932	D	0	-15.2138	18.1716	0.89747	0.0:1.0:0.0:0.0	.	33;33	P54315;P54315-2	LIPR1_HUMAN;.	H	33	ENSP00000436123:P33H;ENSP00000351695:P33H;ENSP00000433933:P33H;ENSP00000400963:P33H;ENSP00000437263:P33H;ENSP00000433785:P33H;ENSP00000431207:P33H;ENSP00000434159:P33H	ENSP00000351695:P33H	P	+	2	0	PNLIPRP1	118341321	0.998000	0.40836	0.999000	0.59377	0.905000	0.53344	5.499000	0.66937	2.593000	0.87608	0.655000	0.94253	CCC		0.522	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		29	87	1	0	7.26e-15	1.01e-14	29	87				
PNLIPRP2	5408	broad.mit.edu	37	10	118396416	118396416	+	RNA	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:118396416A>G	ENST00000298771.7	+	0	1082				PNLIPRP2_ENST00000537242.1_RNA|PNLIPRP2_ENST00000433618.4_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		AGAGAGTGGTAACTTTACTAG	0.393																																						uc001lcq.2		NA																	0				large_intestine(1)	1						c.(1060-1062)AAC>GAC		pancreatic lipase-related protein 2							52.0	47.0	49.0					10																	118396416		1852	4094	5946			5408				galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	g.chr10:118396416A>G	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118396416A>G						PNLIPRP2_uc009xyv.1_RNA	p.N354D	NM_005396	NP_005387	P54317	LIPR2_HUMAN		all cancers(201;0.015)	12	1083	+			353	N->Q: Loss of N-glycosylation.				A8K627|Q6IB55	Missense_Mutation	SNP	ENST00000298771.7	37	c.1060A>G		.	.	.	.	.	.	.	.	.	.	A	9.792	1.178294	0.21787	.	.	ENSG00000165862	ENST00000537242	D	0.90900	-2.75	5.21	2.88	0.33553	Lipase, N-terminal (1);	0.344098	0.24851	N	0.035087	T	0.81612	0.4859	.	.	.	0.20196	N	0.999925	B	0.06786	0.001	B	0.08055	0.003	T	0.65092	-0.6252	8	.	.	.	.	8.1439	0.31100	0.6912:0.0:0.3088:0.0	.	353	P54317	LIPR2_HUMAN	D	353	ENSP00000446346:N353D	.	N	+	1	0	PNLIPRP2	118386406	0.706000	0.27856	0.998000	0.56505	0.945000	0.59286	1.200000	0.32247	0.402000	0.25451	0.460000	0.39030	AAC		0.393	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		3	11	0	0	0	0	3	11				
GPR26	2849	broad.mit.edu	37	10	125447567	125447567	+	Missense_Mutation	SNP	G	G	T	rs141519939		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:125447567G>T	ENST00000284674.1	+	3	958	c.905G>T	c.(904-906)cGc>cTc	p.R302L		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	302					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R302H(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CACCAGTACCGCAAAAGCTGC	0.597																																						uc001lhh.2		NA																	1	Substitution - Missense(1)		breast(1)	skin(1)	1						c.(904-906)CGC>CTC		G protein-coupled receptor 26							76.0	68.0	71.0					10																	125447567		2203	4300	6503	SO:0001583	missense	2849				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:125447567G>T		CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"""GPCR / Class A : Orphans"""	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.905G>T	10.37:g.125447567G>T	ENSP00000284674:p.Arg302Leu						p.R302L	NM_153442	NP_703143	Q8NDV2	GPR26_HUMAN			3	958	+		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)	302			Cytoplasmic (Potential).		Q2M2E2	Missense_Mutation	SNP	ENST00000284674.1	37	c.905G>T	CCDS7636.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303692	0.81136	.	.	ENSG00000154478	ENST00000284674	T	0.57595	0.39	5.59	2.38	0.29361	.	0.264200	0.31031	N	0.008385	T	0.33847	0.0877	N	0.19112	0.55	0.41138	D	0.985932	P	0.48589	0.912	B	0.42555	0.391	T	0.16247	-1.0409	10	0.87932	D	0	-24.2842	5.3057	0.15803	0.5651:0.0:0.4349:0.0	.	302	Q8NDV2	GPR26_HUMAN	L	302	ENSP00000284674:R302L	ENSP00000284674:R302L	R	+	2	0	GPR26	125437557	1.000000	0.71417	0.989000	0.46669	0.936000	0.57629	5.065000	0.64344	0.717000	0.32145	-0.237000	0.12165	CGC		0.597	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050850.1			19	36	1	0	1.56e-12	2.11e-12	19	36				
MKI67	4288	broad.mit.edu	37	10	129913803	129913803	+	Missense_Mutation	SNP	C	C	T	rs145509852	byFrequency	TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:129913803C>T	ENST00000368654.3	-	7	1244	c.869G>A	c.(868-870)cGt>cAt	p.R290H	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	290					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCTTGACTTACGCGAGACCAA	0.498													C|||	12	0.00239617	0.0091	0.0	5008	,	,		18535	0.0		0.0	False		,,,				2504	0.0					uc001lke.2		NA																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(868-870)CGT>CAT		antigen identified by monoclonal antibody Ki-67		C	,HIS/ARG	39,4367	43.1+/-76.7	1,37,2165	87.0	91.0	89.0		,869	-2.7	0.0	10	dbSNP_134	89	1,8599		0,1,4299	yes	intron,missense	MKI67	NM_001145966.1,NM_002417.4	,29	1,38,6464	TT,TC,CC		0.0116,0.8852,0.3076	,benign	,290/3257	129913803	40,12966	2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129913803C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.869G>A	10.37:g.129913803C>T	ENSP00000357643:p.Arg290His					MKI67_uc001lkf.2_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	p.R290H	NM_002417	NP_002408	P46013	KI67_HUMAN			7	1064	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	290					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.869G>A	CCDS7659.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	4.158	0.027693	0.08054	0.008852	1.16E-4	ENSG00000148773	ENST00000368654;ENST00000537609	T	0.22134	1.97	3.28	-2.66	0.06077	.	3.730880	0.01095	N	0.005264	T	0.06096	0.0158	N	0.08118	0	0.09310	N	1	B	0.33904	0.431	B	0.24974	0.057	T	0.12578	-1.0542	10	0.87932	D	0	.	1.7251	0.02920	0.3597:0.2274:0.3025:0.1104	.	290	P46013	KI67_HUMAN	H	290	ENSP00000357643:R290H	ENSP00000357643:R290H	R	-	2	0	MKI67	129803793	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.203000	0.09438	-0.573000	0.05998	-0.175000	0.13238	CGT		0.498	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		17	42	0	0	0	0	17	42				
INPP5A	3632	broad.mit.edu	37	10	134563023	134563023	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr10:134563023G>A	ENST00000368594.3	+	10	1012	c.735G>A	c.(733-735)acG>acA	p.T245T	INPP5A_ENST00000368593.3_Silent_p.T245T	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	245					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		TTCTGCAGACGCTCTGCACAA	0.602																																					Pancreas(63;823 1267 11107 20380 51626)	uc001llp.2		NA																	0				skin(1)	1						c.(733-735)ACG>ACA		inositol polyphosphate-5-phosphatase A							55.0	53.0	54.0					10																	134563023		2202	4300	6502	SO:0001819	synonymous_variant	3632				cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding	g.chr10:134563023G>A	X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"""CTCL tumor antigen HD-CL-02"", ""43 kDa inositol polyphosphate 5-phophatase"", ""inositol polyphosphate 5-phophatase, 40kDa"", ""InsP3 5-phosphatase"", ""type I inositol-1,4,5-trisphosphate 5-phosphatase"""	600106	"""inositol polyphosphate-5-phosphatase, 40kD"""			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.735G>A	10.37:g.134563023G>A						INPP5A_uc001llo.1_Silent_p.T245T|INPP5A_uc001llq.2_Intron	p.T245T	NM_005539	NP_005530	Q14642	I5P1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)	10	983	+		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)	245					D3DXI3|Q14640|Q5JSF1	Silent	SNP	ENST00000368594.3	37	c.735G>A	CCDS7669.2																																																																																				0.602	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051085.1	NM_005539		7	20	0	0	0	0	7	20				
TRIM22	10346	broad.mit.edu	37	11	5730527	5730527	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:5730527G>A	ENST00000379965.3	+	8	1423	c.1146G>A	c.(1144-1146)aaG>aaA	p.K382K	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	382	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		ATAAAAGGAAGAGCTCTGGGT	0.378																																					GBM(104;491 2336 5222)	uc001mbr.2		NA																	0					0						c.(1144-1146)AAG>AAA		tripartite motif-containing 22							109.0	112.0	111.0					11																	5730527		1881	4104	5985	SO:0001819	synonymous_variant	10346				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr11:5730527G>A	X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16379	protein-coding gene	gene with protein product		606559	"""tripartite motif-containing 22"""			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.1146G>A	11.37:g.5730527G>A						TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|TRIM22_uc009yes.2_Silent_p.K378K|TRIM22_uc010qzm.1_Silent_p.K210K|TRIM22_uc009yeu.2_Silent_p.K193K|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron	p.K382K	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)	8	1423	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	382			B30.2/SPRY.		Q05CQ0|Q15521	Silent	SNP	ENST00000379965.3	37	c.1146G>A	CCDS41612.1																																																																																				0.378	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074		13	44	0	0	0	0	13	44				
C11orf42	160298	broad.mit.edu	37	11	6231257	6231257	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:6231257C>T	ENST00000316375.2	+	2	300	c.250C>T	c.(250-252)Ctg>Ttg	p.L84L	FAM160A2_ENST00000529360.1_5'Flank	NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	84										endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCAAGCCTCCTGGAGCAGGC	0.612																																						uc001mcj.2		NA																	0				ovary(1)	1						c.(250-252)CTG>TTG		hypothetical protein LOC160298							52.0	52.0	52.0					11																	6231257		2201	4296	6497	SO:0001819	synonymous_variant	160298							g.chr11:6231257C>T	BC031612	CCDS7759.1	11p15.4	2012-08-09			ENSG00000180878	ENSG00000180878			28541	protein-coding gene	gene with protein product						12477932	Standard	NM_173525		Approved	MGC34805	uc001mcj.3	Q8N5U0	OTTHUMG00000133377	ENST00000316375.2:c.250C>T	11.37:g.6231257C>T							p.L84L	NM_173525	NP_775796	Q8N5U0	CK042_HUMAN		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	298	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	84						Silent	SNP	ENST00000316375.2	37	c.250C>T	CCDS7759.1																																																																																				0.612	C11orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257227.2	NM_173525		15	10	0	0	0	0	15	10				
OR5P3	120066	broad.mit.edu	37	11	7847305	7847305	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:7847305C>G	ENST00000328375.1	-	1	214	c.215G>C	c.(214-216)gGg>gCg	p.G72A	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	72						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)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGAGGAGTACCCAATGTCTAC	0.438																																						uc010rbg.1		NA																	0				skin(1)	1						c.(214-216)GGG>GCG		olfactory receptor, family 5, subfamily P,							116.0	113.0	114.0					11																	7847305		2188	4296	6484	SO:0001583	missense	120066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7847305C>G	AF158377	CCDS7783.1	11p15.4	2012-08-09			ENSG00000182334	ENSG00000182334		"""GPCR / Class A : Olfactory receptors"""	14784	protein-coding gene	gene with protein product							Standard	NM_153445		Approved	JCG1	uc010rbg.2	Q8WZ94	OTTHUMG00000165669	ENST00000328375.1:c.215G>C	11.37:g.7847305C>G	ENSP00000332068:p.Gly72Ala						p.G72A	NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	215	-			72			Helical; Name=2; (Potential).		Q6IFE1|Q8NGM2	Missense_Mutation	SNP	ENST00000328375.1	37	c.215G>C	CCDS7783.1	.	.	.	.	.	.	.	.	.	.	C	1.507	-0.550463	0.03996	.	.	ENSG00000182334	ENST00000328375	T	0.01313	5.02	5.18	3.18	0.36537	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	U	0.000291	T	0.01454	0.0047	L	0.35341	1.055	0.09310	N	1	B	0.17038	0.02	B	0.23275	0.045	T	0.44682	-0.9312	10	0.39692	T	0.17	-10.7394	8.1317	0.31031	0.3149:0.5323:0.1528:0.0	.	72	Q8WZ94	OR5P3_HUMAN	A	72	ENSP00000332068:G72A	ENSP00000332068:G72A	G	-	2	0	OR5P3	7803881	0.009000	0.17119	0.006000	0.13384	0.002000	0.02628	2.470000	0.45119	1.387000	0.46486	0.644000	0.83932	GGG		0.438	OR5P3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385697.1	NM_153445		40	23	0	0	0	0	40	23				
PTPRJ	5795	broad.mit.edu	37	11	48181590	48181590	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:48181590A>T	ENST00000418331.2	+	22	3899	c.3547A>T	c.(3547-3549)Aca>Tca	p.T1183S		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1183	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CAGAGATTTCACAGTGAAAAA	0.388																																						uc001ngp.3		NA																	0				breast(3)|kidney(3)|ovary(1)|skin(1)	8						c.(3547-3549)ACA>TCA		protein tyrosine phosphatase, receptor type, J							106.0	97.0	100.0					11																	48181590		2201	4298	6499	SO:0001583	missense	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48181590A>T	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.3547A>T	11.37:g.48181590A>T	ENSP00000400010:p.Thr1183Ser						p.T1183S	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN			22	3902	+			1183			Tyrosine-protein phosphatase.|Cytoplasmic (Potential).		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	c.3547A>T	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	A	8.897	0.955309	0.18507	.	.	ENSG00000149177	ENST00000418331	D	0.83075	-1.68	5.62	4.5	0.54988	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	.	.	.	.	T	0.68531	0.3011	N	0.25060	0.705	0.54753	D	0.999986	B	0.27166	0.17	B	0.26202	0.067	T	0.59043	-0.7528	9	0.11485	T	0.65	.	9.0674	0.36471	0.9112:0.0:0.0888:0.0	.	1183	Q12913	PTPRJ_HUMAN	S	1183	ENSP00000400010:T1183S	ENSP00000400010:T1183S	T	+	1	0	PTPRJ	48138166	0.816000	0.29132	0.866000	0.34008	0.974000	0.67602	1.361000	0.34136	0.986000	0.38683	0.529000	0.55759	ACA		0.388	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			60	35	0	0	0	0	60	35				
OR4C16	219428	broad.mit.edu	37	11	55340052	55340052	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:55340052C>A	ENST00000314634.3	+	1	449	c.449C>A	c.(448-450)tCc>tAc	p.S150Y		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TGGGTGGGATCCTGTGTGCAT	0.498																																						uc010rih.1		NA																	0				ovary(1)|skin(1)	2						c.(448-450)TCC>TAC		olfactory receptor, family 4, subfamily C,							154.0	142.0	146.0					11																	55340052		2201	4296	6497	SO:0001583	missense	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55340052C>A	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.449C>A	11.37:g.55340052C>A	ENSP00000324913:p.Ser150Tyr						p.S150Y	NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN			1	449	+		all_epithelial(135;0.0748)	150			Helical; Name=4; (Potential).		Q6IEV8	Missense_Mutation	SNP	ENST00000314634.3	37	c.449C>A	CCDS31502.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538750	0.45176	.	.	ENSG00000181935	ENST00000314634	T	0.47869	0.83	4.98	4.98	0.66077	GPCR, rhodopsin-like superfamily (1);	0.099200	0.45606	D	0.000357	T	0.73923	0.3649	M	0.90759	3.145	0.09310	N	1	D	0.76494	0.999	D	0.76575	0.988	T	0.69745	-0.5062	10	0.87932	D	0	.	15.7881	0.78326	0.0:1.0:0.0:0.0	.	150	Q8NGL9	OR4CG_HUMAN	Y	150	ENSP00000324913:S150Y	ENSP00000324913:S150Y	S	+	2	0	OR4C16	55096628	0.000000	0.05858	0.964000	0.40570	0.414000	0.31173	0.309000	0.19332	2.595000	0.87683	0.549000	0.68633	TCC		0.498	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		20	58	1	0	1.01e-13	1.38e-13	20	58				
OR8H3	390152	broad.mit.edu	37	11	55890010	55890010	+	Silent	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:55890010C>A	ENST00000313472.3	+	1	162	c.162C>A	c.(160-162)ctC>ctA	p.L54L		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					GCCTGGACCTCCAGCTTCACA	0.433																																						uc001nii.1		NA																	0				ovary(2)	2						c.(160-162)CTC>CTA		olfactory receptor, family 8, subfamily H,							280.0	282.0	282.0					11																	55890010		2201	4296	6497	SO:0001819	synonymous_variant	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890010C>A	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.162C>A	11.37:g.55890010C>A							p.L54L	NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN			1	162	+	Esophageal squamous(21;0.00693)		54			Cytoplasmic (Potential).		Q6IFB7	Silent	SNP	ENST00000313472.3	37	c.162C>A	CCDS31519.1																																																																																				0.433	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		60	308	1	0	7.12e-29	1.05e-28	60	308				
OR5T2	219464	broad.mit.edu	37	11	56000380	56000380	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:56000380G>A	ENST00000313264.4	-	1	357	c.282C>T	c.(280-282)ctC>ctT	p.L94L		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TGGGTTTGTGGAGCTGGGAAT	0.393																																						uc010rjc.1		NA																	0				ovary(2)	2						c.(280-282)CTC>CTT		olfactory receptor, family 5, subfamily T,							79.0	77.0	78.0					11																	56000380		2201	4296	6497	SO:0001819	synonymous_variant	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56000380G>A	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.282C>T	11.37:g.56000380G>A							p.L94L	NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN			1	282	-	Esophageal squamous(21;0.00448)		94			Helical; Name=2; (Potential).		B9EGX5|Q6IFC8	Silent	SNP	ENST00000313264.4	37	c.282C>T	CCDS31523.1																																																																																				0.393	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		6	92	0	0	0	0	6	92				
OR5T2	219464	broad.mit.edu	37	11	56000428	56000428	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:56000428G>A	ENST00000313264.4	-	1	309	c.234C>T	c.(232-234)ctC>ctT	p.L78L		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					AATTTCCCATGAGAGTGAAGA	0.413																																						uc010rjc.1		NA																	0				ovary(2)	2						c.(232-234)CTC>CTT		olfactory receptor, family 5, subfamily T,							73.0	68.0	70.0					11																	56000428		2201	4296	6497	SO:0001819	synonymous_variant	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56000428G>A	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.234C>T	11.37:g.56000428G>A							p.L78L	NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN			1	234	-	Esophageal squamous(21;0.00448)		78			Helical; Name=1; (Potential).		B9EGX5|Q6IFC8	Silent	SNP	ENST00000313264.4	37	c.234C>T	CCDS31523.1																																																																																				0.413	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		9	77	0	0	0	0	9	77				
OR8K3	219473	broad.mit.edu	37	11	56086376	56086376	+	Silent	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:56086376A>T	ENST00000312711.1	+	1	594	c.594A>T	c.(592-594)atA>atT	p.I198I		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TTGAATTGATAATTCTGATCT	0.363																																						uc010rjf.1		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(592-594)ATA>ATT		olfactory receptor, family 8, subfamily K,							97.0	95.0	96.0					11																	56086376		2201	4296	6497	SO:0001819	synonymous_variant	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56086376A>T	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.594A>T	11.37:g.56086376A>T							p.I198I	NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN			1	594	+	Esophageal squamous(21;0.00448)		198			Helical; Name=5; (Potential).		Q6IFC4	Silent	SNP	ENST00000312711.1	37	c.594A>T	CCDS31527.1																																																																																				0.363	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202		22	70	0	0	0	0	22	70				
OR5M10	390167	broad.mit.edu	37	11	56344727	56344727	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:56344727G>A	ENST00000526812.2	-	1	536	c.471C>T	c.(469-471)ctC>ctT	p.L157L		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GTGTCTGAGAGAGCCCATTAA	0.468																																						uc001niz.1		NA																	0					0						c.(469-471)CTC>CTT		olfactory receptor, family 5, subfamily M,							155.0	150.0	151.0					11																	56344727		2020	4193	6213	SO:0001819	synonymous_variant	390167				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56344727G>A	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.471C>T	11.37:g.56344727G>A							p.L157L	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN			1	471	-			157			Helical; Name=4; (Potential).		B9EIL9	Silent	SNP	ENST00000526812.2	37	c.471C>T	CCDS53630.1																																																																																				0.468	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741		22	72	0	0	0	0	22	72				
OR5B21	219968	broad.mit.edu	37	11	58275518	58275518	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:58275518G>A	ENST00000360374.2	-	1	60	c.61C>T	c.(61-63)Ctt>Ttt	p.L21F		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGTATCTGAAGATTGGGGTCA	0.468																																						uc010rki.1		NA																	0				ovary(3)	3						c.(61-63)CTT>TTT		olfactory receptor, family 5, subfamily B,							62.0	60.0	61.0					11																	58275518		2201	4295	6496	SO:0001583	missense	219968				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58275518G>A		CCDS31552.1	11q12.1	2012-08-09			ENSG00000198283	ENSG00000198283		"""GPCR / Class A : Olfactory receptors"""	19616	protein-coding gene	gene with protein product							Standard	NM_001005218		Approved		uc010rki.2	A6NL26	OTTHUMG00000167519	ENST00000360374.2:c.61C>T	11.37:g.58275518G>A	ENSP00000353537:p.Leu21Phe						p.L21F	NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN			1	61	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	21			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000360374.2	37	c.61C>T	CCDS31552.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115897	0.37339	.	.	ENSG00000198283	ENST00000360374	T	0.03330	3.97	5.08	4.16	0.48862	.	0.000000	0.31601	U	0.007378	T	0.15046	0.0363	M	0.68952	2.095	0.09310	N	1	D	0.57899	0.981	D	0.67725	0.953	T	0.01294	-1.1393	10	0.72032	D	0.01	-13.1247	14.4183	0.67165	0.0:0.1486:0.8514:0.0	.	21	A6NL26	OR5BL_HUMAN	F	21	ENSP00000353537:L21F	ENSP00000353537:L21F	L	-	1	0	OR5B21	58032094	0.000000	0.05858	0.028000	0.17463	0.603000	0.37013	-0.261000	0.08694	1.345000	0.45676	0.655000	0.94253	CTT		0.468	OR5B21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394891.1	NM_001005218		23	33	0	0	0	0	23	33				
DTX4	23220	broad.mit.edu	37	11	58949291	58949291	+	Silent	SNP	C	C	T	rs373681418		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:58949291C>T	ENST00000227451.3	+	2	395	c.291C>T	c.(289-291)aaC>aaT	p.N97N	DTX4_ENST00000532982.1_5'UTR	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	97	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.				innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				AGTGGGAGAACGACAATGGCT	0.617																																						uc001nns.2		NA																	0				lung(2)|central_nervous_system(1)	3						c.(289-291)AAC>AAT		deltex 4 homolog		C		1,4369	2.1+/-5.4	0,1,2184	110.0	119.0	116.0		291	-4.3	0.9	11		116	0,8588		0,0,4294	no	coding-synonymous	DTX4	NM_015177.1		0,1,6478	TT,TC,CC		0.0,0.0229,0.0077		97/620	58949291	1,12957	2185	4294	6479	SO:0001819	synonymous_variant	23220				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr11:58949291C>T	AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"""RING-type (C3HC4) zinc fingers"""	29151	protein-coding gene	gene with protein product			"""deltex 4 homolog (Drosophila)"", ""deltex homolog 4 (Drosophila)"""			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.291C>T	11.37:g.58949291C>T						DTX4_uc001nnr.2_Translation_Start_Site	p.N97N	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN			2	548	+		all_epithelial(135;0.125)	97			WWE 2.		Q0VF38	Silent	SNP	ENST00000227451.3	37	c.291C>T	CCDS44612.1																																																																																				0.617	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213		13	43	0	0	0	0	13	43				
OR4D11	219986	broad.mit.edu	37	11	59271271	59271271	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:59271271T>C	ENST00000313253.1	+	1	223	c.223T>C	c.(223-225)Tcc>Ccc	p.S75P		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CTGCTTCTCCTCCACAACTGC	0.488																																						uc001noa.1		NA																	0				ovary(1)|skin(1)	2						c.(223-225)TCC>CCC		olfactory receptor, family 4, subfamily D,							205.0	197.0	200.0					11																	59271271		2201	4295	6496	SO:0001583	missense	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271271T>C	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.223T>C	11.37:g.59271271T>C	ENSP00000320077:p.Ser75Pro						p.S75P	NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN			1	223	+			75			Helical; Name=2; (Potential).			Missense_Mutation	SNP	ENST00000313253.1	37	c.223T>C	CCDS31563.1	.	.	.	.	.	.	.	.	.	.	T	16.28	3.079043	0.55753	.	.	ENSG00000176200	ENST00000313253	T	0.00408	7.54	5.45	5.45	0.79879	GPCR, rhodopsin-like superfamily (1);	0.136586	0.33959	N	0.004384	T	0.01287	0.0042	M	0.91768	3.24	0.39743	D	0.97177	P	0.52577	0.954	P	0.59948	0.866	T	0.45934	-0.9227	10	0.87932	D	0	-54.0888	10.2935	0.43610	0.1477:0.0:0.0:0.8523	.	75	Q8NGI4	OR4DB_HUMAN	P	75	ENSP00000320077:S75P	ENSP00000320077:S75P	S	+	1	0	OR4D11	59027847	0.469000	0.25846	1.000000	0.80357	0.514000	0.34195	1.177000	0.31969	2.069000	0.61940	0.460000	0.39030	TCC		0.488	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		41	80	0	0	0	0	41	80				
SLC22A9	114571	broad.mit.edu	37	11	63137901	63137901	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:63137901A>G	ENST00000279178.3	+	1	622	c.373A>G	c.(373-375)Atc>Gtc	p.I125V	SLC22A9_ENST00000310969.4_Missense_Mutation_p.I125V	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	125					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						GTATGACAGAATCTCCTTCTC	0.493																																						uc001nww.2		NA																	0				breast(2)|large_intestine(1)	3						c.(373-375)ATC>GTC		solute carrier family 22 (organic anion/cation							119.0	99.0	106.0					11																	63137901		2201	4298	6499	SO:0001583	missense	114571				transmembrane transport	integral to membrane		g.chr11:63137901A>G	AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"""Solute carriers"""	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.373A>G	11.37:g.63137901A>G	ENSP00000279178:p.Ile125Val					SLC22A9_uc001nwx.2_RNA	p.I125V	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN			1	641	+			125			Extracellular (Potential).		A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	ENST00000279178.3	37	c.373A>G	CCDS8043.1	.	.	.	.	.	.	.	.	.	.	A	10.14	1.267369	0.23136	.	.	ENSG00000149742	ENST00000310969;ENST00000279178	T;T	0.79653	-1.29;-1.29	3.48	3.48	0.39840	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.147025	0.64402	D	0.000015	T	0.62804	0.2458	N	0.08118	0	0.09310	N	1	B	0.18310	0.027	B	0.20955	0.032	T	0.59841	-0.7378	10	0.72032	D	0.01	.	10.3769	0.44088	1.0:0.0:0.0:0.0	.	125	Q8IVM8	S22A9_HUMAN	V	125	ENSP00000311527:I125V;ENSP00000279178:I125V	ENSP00000279178:I125V	I	+	1	0	SLC22A9	62894477	0.009000	0.17119	0.003000	0.11579	0.014000	0.08584	2.235000	0.43044	1.646000	0.50622	0.113000	0.15668	ATC		0.493	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		11	32	0	0	0	0	11	32				
MTL5	9633	broad.mit.edu	37	11	68518104	68518104	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:68518104C>A	ENST00000255087.5	-	2	208	c.25G>T	c.(25-27)Ggg>Tgg	p.G9W	MTL5_ENST00000544963.1_Missense_Mutation_p.G9W|MTL5_ENST00000443940.2_Missense_Mutation_p.G9W|MTL5_ENST00000540869.1_5'Flank	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	9					cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CTGGGCAGCCCGCCCGGCAGA	0.716																																						uc001ooc.2		NA																	0				ovary(2)|breast(1)	3						c.(25-27)GGG>TGG		metallothionein-like 5, testis-specific isoform							8.0	9.0	9.0					11																	68518104		2175	4239	6414	SO:0001583	missense	9633				cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding	g.chr11:68518104C>A	U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"""CXC domain containing 2"""	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.25G>T	11.37:g.68518104C>A	ENSP00000255087:p.Gly9Trp					MTL5_uc001ood.1_Missense_Mutation_p.G9W|MTL5_uc009ysi.1_Missense_Mutation_p.G9W|MTL5_uc001ooe.2_Missense_Mutation_p.G9W	p.G9W	NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)		2	165	-	Esophageal squamous(3;4.37e-12)		9					A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Missense_Mutation	SNP	ENST00000255087.5	37	c.25G>T	CCDS8184.1	.	.	.	.	.	.	.	.	.	.	c	12.02	1.812860	0.32053	.	.	ENSG00000132749	ENST00000255087;ENST00000443940;ENST00000544963	T;T;T	0.54279	1.25;0.58;1.18	3.48	1.58	0.23477	.	1.016460	0.07923	N	0.976102	T	0.53045	0.1772	N	0.19112	0.55	0.09310	N	1	D;D	0.71674	0.998;0.994	D;P	0.65684	0.937;0.815	T	0.42015	-0.9476	10	0.66056	D	0.02	-0.9257	5.6078	0.17389	0.0:0.7489:0.0:0.2511	.	9;9	Q9Y4I5-3;Q9Y4I5	.;MTL5_HUMAN	W	9	ENSP00000255087:G9W;ENSP00000403086:G9W;ENSP00000440968:G9W	ENSP00000255087:G9W	G	-	1	0	MTL5	68274680	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	0.325000	0.19628	0.201000	0.20466	0.298000	0.19748	GGG		0.716	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396844.1	NM_004923		6	10	1	0	0.000274275	0.000300676	6	10				
EXPH5	23086	broad.mit.edu	37	11	108381350	108381350	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:108381350G>A	ENST00000265843.4	-	6	4994	c.4884C>T	c.(4882-4884)ggC>ggT	p.G1628G	EXPH5_ENST00000428840.1_Silent_p.G1552G|EXPH5_ENST00000443411.1_Silent_p.G1440G|EXPH5_ENST00000525344.1_Silent_p.G1621G|EXPH5_ENST00000524840.1_5'Flank	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1628					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AATGGTCAAAGCCAGATCTGC	0.488																																						uc001pkk.2		NA																	0				skin(3)|ovary(2)	5						c.(4882-4884)GGC>GGT		exophilin 5 isoform a							111.0	107.0	109.0					11																	108381350		2201	4298	6499	SO:0001819	synonymous_variant	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108381350G>A		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.4884C>T	11.37:g.108381350G>A						EXPH5_uc010rvy.1_Silent_p.G1440G|EXPH5_uc010rvz.1_Silent_p.G1472G|EXPH5_uc010rwa.1_Silent_p.G1552G	p.G1628G	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	4995	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1628					Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	c.4884C>T	CCDS8341.1																																																																																				0.488	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		22	16	0	0	0	0	22	16				
OR8D4	338662	broad.mit.edu	37	11	123777713	123777713	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr11:123777713C>T	ENST00000321355.2	+	1	605	c.575C>T	c.(574-576)aCt>aTt	p.T192I		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGCTCCAGCACTTATATTGAT	0.373																																						uc010saa.1		NA																	0				skin(1)	1						c.(574-576)ACT>ATT		olfactory receptor, family 8, subfamily D,							160.0	167.0	164.0					11																	123777713		2202	4299	6501	SO:0001583	missense	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777713C>T	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.575C>T	11.37:g.123777713C>T	ENSP00000325381:p.Thr192Ile						p.T192I	NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	1	575	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	192			Extracellular (Potential).		Q6IFE9	Missense_Mutation	SNP	ENST00000321355.2	37	c.575C>T	CCDS31698.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.677210	0.29783	.	.	ENSG00000181518	ENST00000321355	T	0.00245	8.45	5.81	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.270973	0.25968	N	0.027148	T	0.00300	0.0009	M	0.70108	2.13	0.22354	N	0.99917	B	0.27192	0.171	B	0.34038	0.174	T	0.29971	-0.9994	10	0.52906	T	0.07	.	13.6886	0.62531	0.0:0.9249:0.0:0.0751	.	192	Q8NGM9	OR8D4_HUMAN	I	192	ENSP00000325381:T192I	ENSP00000325381:T192I	T	+	2	0	OR8D4	123282923	0.143000	0.22626	0.158000	0.22627	0.633000	0.38033	0.653000	0.24902	1.463000	0.47967	0.655000	0.94253	ACT		0.373	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		10	108	0	0	0	0	10	108				
SLC2A14	144195	broad.mit.edu	37	12	7973850	7973850	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:7973850C>T	ENST00000543909.1	-	13	1764	c.1005G>A	c.(1003-1005)gcG>gcA	p.A335A	SLC2A14_ENST00000431042.2_Silent_p.A312A|SLC2A14_ENST00000535295.1_Silent_p.A226A|SLC2A14_ENST00000539924.1_Silent_p.A350A|SLC2A14_ENST00000542546.1_Silent_p.A226A|SLC2A14_ENST00000340749.5_Silent_p.A312A|SLC2A14_ENST00000396589.2_Silent_p.A335A|SLC2A14_ENST00000542505.1_5'UTR			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	335					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TAACCACACCCGCGCTGATGG	0.413																																						uc001qtk.2		NA																	0				ovary(1)	1						c.(1003-1005)GCG>GCA		glucose transporter 14							148.0	137.0	140.0					12																	7973850		2203	4300	6503	SO:0001819	synonymous_variant	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7973850C>T	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.1005G>A	12.37:g.7973850C>T						SLC2A14_uc001qtl.2_Silent_p.A312A|SLC2A14_uc001qtm.2_Silent_p.A312A|SLC2A14_uc010sgg.1_Silent_p.A226A|SLC2A14_uc001qtn.2_Silent_p.A335A|SLC2A14_uc001qto.2_5'UTR|SLC2A14_uc010sgh.1_Silent_p.A350A	p.A335A	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	13	1798	-			335			Helical; Name=8; (Potential).		B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Silent	SNP	ENST00000543909.1	37	c.1005G>A	CCDS8585.1																																																																																				0.413	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		68	62	0	0	0	0	68	62				
TAS2R31	259290	broad.mit.edu	37	12	11183779	11183779	+	Silent	SNP	C	C	T	rs577784067	byFrequency	TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:11183779C>T	ENST00000390675.2	-	1	227	c.156G>A	c.(154-156)gcG>gcA	p.A52A	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	52					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.A52A(1)		kidney(1)|lung(6)	7						CTCTGGAGACCGCCAGAGCAG	0.378													.|||	2	0.000399361	0.0	0.0	5008	,	,		18107	0.002		0.0	False		,,,				2504	0.0					uc001qzo.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(154-156)GCG>GCA		taste receptor, type 2, member 31							73.0	80.0	78.0					12																	11183779		1998	4245	6243	SO:0001819	synonymous_variant	259290				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11183779C>T	AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19113	protein-coding gene	gene with protein product		612669	"""taste receptor, type 2, member 44"""	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.156G>A	12.37:g.11183779C>T						PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	p.A52A	NM_176885	NP_795366	P59538	T2R31_HUMAN			1	228	-			52			Cytoplasmic (Potential).		P59547|Q17R84|Q645X5	Silent	SNP	ENST00000390675.2	37	c.156G>A	CCDS53747.1																																																																																				0.378	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400233.1	NM_176885		41	131	0	0	0	0	41	131				
ITPR2	3709	broad.mit.edu	37	12	26774192	26774192	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:26774192T>C	ENST00000381340.3	-	26	3742	c.3326A>G	c.(3325-3327)tAc>tGc	p.Y1109C	RP11-666F17.1_ENST00000414098.2_RNA|ITPR2_ENST00000545902.1_5'UTR	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1109					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GATTTGCTTGTAGTTATCTAC	0.368																																						uc001rhg.2		NA																	0				kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(3325-3327)TAC>TGC		inositol 1,4,5-triphosphate receptor, type 2							259.0	226.0	236.0					12																	26774192		1858	4122	5980	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26774192T>C	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.3326A>G	12.37:g.26774192T>C	ENSP00000370744:p.Tyr1109Cys						p.Y1109C	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			26	3743	-	Colorectal(261;0.0847)		1109			Cytoplasmic (Potential).		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.3326A>G	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.449771	0.84101	.	.	ENSG00000123104	ENST00000381340	D	0.96136	-3.92	4.82	4.82	0.62117	.	0.255861	0.40818	N	0.001007	D	0.97698	0.9245	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98496	1.0612	10	0.72032	D	0.01	.	14.5562	0.68101	0.0:0.0:0.0:1.0	.	1109	Q14571	ITPR2_HUMAN	C	1109	ENSP00000370744:Y1109C	ENSP00000370744:Y1109C	Y	-	2	0	ITPR2	26665459	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.824000	0.86668	2.024000	0.59613	0.528000	0.53228	TAC		0.368	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		11	264	0	0	0	0	11	264				
C12orf40	283461	broad.mit.edu	37	12	40041680	40041680	+	Silent	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:40041680G>T	ENST00000324616.5	+	6	625	c.471G>T	c.(469-471)gtG>gtT	p.V157V	C12orf40_ENST00000398716.1_Silent_p.V80V|C12orf40_ENST00000405531.3_Silent_p.V157V	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	157										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						CTTTTTCAGTGGAGTTACCTT	0.383																																						uc001rmc.2		NA																	0				ovary(6)	6						c.(469-471)GTG>GTT		hypothetical protein LOC283461							93.0	88.0	90.0					12																	40041680		1835	4091	5926	SO:0001819	synonymous_variant	283461							g.chr12:40041680G>T	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.471G>T	12.37:g.40041680G>T						C12orf40_uc009zjv.1_RNA	p.V157V	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN			6	638	+			157					B7WNU1|Q8IXY6|Q8N818|V9HW02	Silent	SNP	ENST00000324616.5	37	c.471G>T	CCDS41770.1																																																																																				0.383	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		8	32	1	0	0.000157383	0.000174162	8	32				
ADAMTS20	80070	broad.mit.edu	37	12	43833759	43833759	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:43833759T>A	ENST00000389420.3	-	17	2403	c.2404A>T	c.(2404-2406)Aat>Tat	p.N802Y	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.N802Y|ADAMTS20_ENST00000395541.2_5'Flank	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	802	Spacer.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACTGCGTTATTTGATCCACTG	0.299																																						uc010skx.1		NA																	0				central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(2404-2406)AAT>TAT		a disintegrin-like and metalloprotease with							99.0	87.0	91.0					12																	43833759		2200	4294	6494	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43833759T>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.2404A>T	12.37:g.43833759T>A	ENSP00000374071:p.Asn802Tyr					ADAMTS20_uc001rno.1_5'Flank|ADAMTS20_uc001rnp.1_5'Flank	p.N802Y	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	17	2404	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	802			Spacer.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.2404A>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	T	18.47	3.630921	0.67015	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.52057	0.68;0.68	5.28	4.14	0.48551	ADAM-TS Spacer 1 (1);	0.000000	0.64402	D	0.000020	T	0.45637	0.1352	L	0.51422	1.61	0.80722	D	1	P	0.45531	0.86	P	0.50896	0.653	T	0.41627	-0.9498	10	0.07325	T	0.83	.	9.0261	0.36230	0.0:0.145:0.0:0.855	.	802	P59510	ATS20_HUMAN	Y	802	ENSP00000374071:N802Y;ENSP00000448341:N802Y	ENSP00000374068:N802Y	N	-	1	0	ADAMTS20	42120026	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.249000	0.43169	1.097000	0.41459	-0.280000	0.10049	AAT		0.299	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		8	3	0	0	0	0	8	3				
DBX2	440097	broad.mit.edu	37	12	45410203	45410203	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:45410203G>T	ENST00000332700.6	-	4	1057	c.886C>A	c.(886-888)Cca>Aca	p.P296T		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	296					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		GAAGGTTCTGGAGAATTCTCC	0.502																																						uc001rok.1		NA																	0					0						c.(886-888)CCA>ACA		developing brain homeobox 2							100.0	104.0	103.0					12																	45410203		2203	4300	6503	SO:0001583	missense	440097					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:45410203G>T		CCDS31781.1	12q12	2011-06-20				ENSG00000185610		"""Homeoboxes / ANTP class : NKL subclass"""	33186	protein-coding gene	gene with protein product						11239429	Standard	NM_001004329		Approved	FLJ16139	uc001rok.1	Q6ZNG2	OTTHUMG00000169559	ENST00000332700.6:c.886C>A	12.37:g.45410203G>T	ENSP00000331470:p.Pro296Thr						p.P296T	NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN		GBM - Glioblastoma multiforme(48;0.0515)	4	1058	-	Lung SC(27;0.192)	Lung NSC(34;0.142)	296						Missense_Mutation	SNP	ENST00000332700.6	37	c.886C>A	CCDS31781.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081966	0.76528	.	.	ENSG00000185610	ENST00000332700	D	0.93488	-3.23	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000009	D	0.92348	0.7572	L	0.36672	1.1	0.42388	D	0.992515	D	0.59767	0.986	P	0.53266	0.722	D	0.91219	0.5005	10	0.37606	T	0.19	-13.0883	13.5758	0.61873	0.0708:0.0:0.9292:0.0	.	296	Q6ZNG2	DBX2_HUMAN	T	296	ENSP00000331470:P296T	ENSP00000331470:P296T	P	-	1	0	DBX2	43696470	1.000000	0.71417	0.770000	0.31555	0.994000	0.84299	4.016000	0.57159	2.819000	0.97034	0.650000	0.86243	CCA		0.502	DBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404810.1	NM_001004329		12	43	1	0	7.04e-09	8.89e-09	12	43				
KRT6C	286887	broad.mit.edu	37	12	52863216	52863216	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:52863216C>G	ENST00000252250.6	-	8	1485	c.1438G>C	c.(1438-1440)Ggc>Cgc	p.G480R		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	480	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		TGTCCAACGCCTTCGCCATTC	0.597																																						uc001sal.3		NA																	0				ovary(2)	2						c.(1438-1440)GGC>CGC		keratin 6C							134.0	104.0	114.0					12																	52863216		2203	4300	6503	SO:0001583	missense	286887				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52863216C>G	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20406	protein-coding gene	gene with protein product		612315	"""keratin 6E"""	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1438G>C	12.37:g.52863216C>G	ENSP00000252250:p.Gly480Arg						p.G480R	NM_173086	NP_775109	P48668	K2C6C_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0828)	8	1486	-			480			Tail.		A1L4L5|P48666|Q2TAZ9|Q7RTN9	Missense_Mutation	SNP	ENST00000252250.6	37	c.1438G>C	CCDS8829.1	.	.	.	.	.	.	.	.	.	.	C	7.118	0.577460	0.13686	.	.	ENSG00000170465	ENST00000252250;ENST00000411979	D	0.95035	-3.59	3.57	2.65	0.31530	.	0.000000	0.56097	D	0.000030	D	0.94466	0.8219	M	0.87547	2.89	0.31862	N	0.6208	P	0.44877	0.845	P	0.45037	0.467	D	0.93487	0.6832	10	0.56958	D	0.05	.	8.2115	0.31486	0.1538:0.7582:0.0:0.088	.	480	P48668	K2C6C_HUMAN	R	480;465	ENSP00000252250:G480R	ENSP00000252250:G480R	G	-	1	0	KRT6C	51149483	0.000000	0.05858	0.992000	0.48379	0.725000	0.41563	0.222000	0.17699	0.798000	0.33994	0.448000	0.29417	GGC		0.597	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086		3	38	0	0	0	0	3	38				
CAND1	55832	broad.mit.edu	37	12	67699449	67699449	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:67699449A>T	ENST00000545606.1	+	10	2438	c.2001A>T	c.(1999-2001)aaA>aaT	p.K667N		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	667					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GAGCTTTGAAACTGGGTACTC	0.423																																						uc001stn.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1999-2001)AAA>AAT		TIP120 protein							70.0	74.0	73.0					12																	67699449		2203	4300	6503	SO:0001583	missense	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67699449A>T		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.2001A>T	12.37:g.67699449A>T	ENSP00000442318:p.Lys667Asn					CAND1_uc001sto.2_Missense_Mutation_p.K177N	p.K667N	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	10	2438	+			667			HEAT 15.		B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	c.2001A>T	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	A	12.31	1.900382	0.33535	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000544619	T;T	0.67698	-0.28;-0.28	5.83	4.68	0.58851	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80476	0.4630	M	0.81802	2.56	0.80722	D	1	D;P	0.89917	1.0;0.955	D;P	0.79108	0.992;0.776	T	0.80747	-0.1244	9	.	.	.	-19.8727	10.5159	0.44889	0.8656:0.0:0.1344:0.0	.	499;667	Q86VP6-2;Q86VP6	.;CAND1_HUMAN	N	667;667;207	ENSP00000442318:K667N;ENSP00000444089:K207N	.	K	+	3	2	CAND1	65985716	1.000000	0.71417	1.000000	0.80357	0.555000	0.35460	2.361000	0.44160	1.029000	0.39812	-0.297000	0.09499	AAA		0.423	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		82	28	0	0	0	0	82	28				
MYF5	4617	broad.mit.edu	37	12	81110924	81110924	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:81110924T>A	ENST00000228644.3	+	1	234	c.82T>A	c.(82-84)Ttt>Att	p.F28I		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	28					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CGAGGGTGAATTTGGGGACGA	0.622																																						uc001szg.2		NA																	0				ovary(1)	1						c.(82-84)TTT>ATT		myogenic factor 5							50.0	46.0	48.0					12																	81110924		2203	4300	6503	SO:0001583	missense	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81110924T>A		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.82T>A	12.37:g.81110924T>A	ENSP00000228644:p.Phe28Ile						p.F28I	NM_005593	NP_005584	P13349	MYF5_HUMAN			1	217	+			28					Q6ISR9	Missense_Mutation	SNP	ENST00000228644.3	37	c.82T>A	CCDS9020.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.375102	0.82682	.	.	ENSG00000111049	ENST00000228644	T	0.78595	-1.19	6.17	6.17	0.99709	Myogenic basic muscle-specific protein (2);	0.066057	0.64402	D	0.000004	D	0.85733	0.5765	M	0.85373	2.75	0.33597	D	0.60183	P	0.42078	0.77	P	0.50270	0.636	D	0.90077	0.4167	10	0.39692	T	0.17	-6.3137	16.0034	0.80327	0.0:0.0:0.0:1.0	.	28	P13349	MYF5_HUMAN	I	28	ENSP00000228644:F28I	ENSP00000228644:F28I	F	+	1	0	MYF5	79635055	1.000000	0.71417	0.995000	0.50966	0.811000	0.45836	3.910000	0.56371	2.371000	0.80710	0.533000	0.62120	TTT		0.622	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		21	14	0	0	0	0	21	14				
UTP20	27340	broad.mit.edu	37	12	101767436	101767436	+	Missense_Mutation	SNP	C	C	A	rs369003885		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:101767436C>A	ENST00000261637.4	+	54	7196	c.7022C>A	c.(7021-7023)aCg>aAg	p.T2341K		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2341					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.T2341M(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GACTCTGCCACGTGCAAAAAG	0.438																																						uc001tia.1		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(2)|breast(2)	4						c.(7021-7023)ACG>AAG		down-regulated in metastasis							97.0	84.0	88.0					12																	101767436		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101767436C>A	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.7022C>A	12.37:g.101767436C>A	ENSP00000261637:p.Thr2341Lys						p.T2341K	NM_014503	NP_055318	O75691	UTP20_HUMAN			54	7178	+			2341					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.7022C>A	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	C	3.605	-0.080748	0.07141	.	.	ENSG00000120800	ENST00000261637	T	0.63255	-0.03	5.96	-5.26	0.02772	Armadillo-type fold (1);	1.213920	0.05312	N	0.524939	T	0.19485	0.0468	N	0.00246	-1.78	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44697	-0.9311	10	0.02654	T	1	0.9537	8.9359	0.35700	0.211:0.5719:0.0:0.2171	.	2341	O75691	UTP20_HUMAN	K	2341	ENSP00000261637:T2341K	ENSP00000261637:T2341K	T	+	2	0	UTP20	100291567	0.000000	0.05858	0.000000	0.03702	0.959000	0.62525	-0.151000	0.10175	-0.650000	0.05423	-0.136000	0.14681	ACG		0.438	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		13	28	1	0	2.27e-07	2.75e-07	13	28				
ACAD10	80724	broad.mit.edu	37	12	112186135	112186135	+	Missense_Mutation	SNP	C	C	A	rs370710385		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:112186135C>A	ENST00000313698.4	+	17	2655	c.2500C>A	c.(2500-2502)Cgt>Agt	p.R834S	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Missense_Mutation_p.R436S|ACAD10_ENST00000455480.2_Missense_Mutation_p.R865S	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	834						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CCTGGATCCTCGTTGCCAACT	0.537																																						uc001tsq.2		NA																	0				ovary(2)	2						c.(2500-2502)CGT>AGT		acyl-Coenzyme A dehydrogenase family, member 10							140.0	126.0	131.0					12																	112186135		2203	4300	6503	SO:0001583	missense	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112186135C>A	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.2500C>A	12.37:g.112186135C>A	ENSP00000325137:p.Arg834Ser					ACAD10_uc001tsp.2_Missense_Mutation_p.R834S|ACAD10_uc009zvx.2_Missense_Mutation_p.R865S|ACAD10_uc001tss.1_RNA	p.R834S	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN			17	2700	+			834					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	c.2500C>A	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.986680	0.74589	.	.	ENSG00000111271	ENST00000392636;ENST00000413681;ENST00000455480;ENST00000313698	D;D;D	0.95035	-3.59;-3.59;-3.59	5.87	3.09	0.35607	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.376195	0.27668	N	0.018357	D	0.94814	0.8325	L	0.61387	1.9	0.38511	D	0.948466	P;P;P	0.47191	0.881;0.796;0.891	P;P;B	0.53593	0.591;0.73;0.43	D	0.94001	0.7275	10	0.66056	D	0.02	.	10.8554	0.46796	0.0:0.7904:0.0:0.2096	.	865;834;834	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	S	436;834;865;834	ENSP00000376411:R436S;ENSP00000389813:R865S;ENSP00000325137:R834S	ENSP00000325137:R834S	R	+	1	0	ACAD10	110670518	0.381000	0.25140	0.987000	0.45799	0.972000	0.66771	0.853000	0.27777	0.399000	0.25367	0.655000	0.94253	CGT		0.537	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		42	24	1	0	2.25e-16	3.17e-16	42	24				
RITA1	84934	broad.mit.edu	37	12	113629589	113629589	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr12:113629589G>A	ENST00000548278.1	+	4	1469	c.777G>A	c.(775-777)ggG>ggA	p.G259G	C12orf52_ENST00000552495.1_Silent_p.G283G|C12orf52_ENST00000549621.1_Silent_p.G259G|RP11-545P7.4_ENST00000552525.1_RNA	NM_032848.1	NP_116237.1	Q96K30	RITA1_HUMAN		259	Interaction with tubulin.				negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|nuclear export (GO:0051168)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	tubulin binding (GO:0015631)			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						GACGAGGTGGGGCCACCCAGA	0.602																																						uc001tur.1		NA																	0					0						c.(775-777)GGG>GGA		hypothetical protein LOC84934							45.0	49.0	48.0					12																	113629589		2203	4299	6502	SO:0001819	synonymous_variant	84934				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding	g.chr12:113629589G>A																												ENST00000548278.1:c.777G>A	12.37:g.113629589G>A						C12orf52_uc009zwg.1_Silent_p.G256G|C12orf52_uc001tus.1_Silent_p.G259G|C12orf52_uc001tut.1_Silent_p.G283G	p.G259G	NM_032848	NP_116237	Q96K30	RITA_HUMAN			4	1245	+			259			Interaction with tubulin.		B3KVZ4|C9JIN1|F8VRG5|Q53GM3|Q96K25	Silent	SNP	ENST00000548278.1	37	c.777G>A	CCDS9166.1																																																																																				0.602	C12orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405239.1			30	16	0	0	0	0	30	16				
ERCC5	2073	broad.mit.edu	37	13	103514530	103514530	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr13:103514530C>G	ENST00000355739.4	+	8	2454	c.1031C>G	c.(1030-1032)aCt>aGt	p.T344S	ERCC5_ENST00000375954.1_5'Flank|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.N769K	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	344					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TCTCCAAGAACTTTACTAGCT	0.512			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc001vpw.2		NA	yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	Mis|N|F	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""			E		skin basal cell|skin squamous cell|melanoma			0				ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						c.(1030-1032)ACT>AGT	Direct_reversal_of_damage|NER	XPG-complementing protein							91.0	92.0	91.0					13																	103514530		2203	4300	6503	SO:0001583	missense	2073	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding	g.chr13:103514530C>G	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.1031C>G	13.37:g.103514530C>G	ENSP00000347978:p.Thr344Ser					ERCC5_uc001vpu.1_Missense_Mutation_p.T798S|ERCC5_uc010tjb.1_Missense_Mutation_p.T344S|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.T176S	p.T344S	NM_000123	NP_000114	P28715	ERCC5_HUMAN			8	1474	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		344					A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	c.1031C>G	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217564	0.58560	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955	T	0.19394	2.15	5.22	5.22	0.72569	.	0.101949	0.64402	D	0.000003	T	0.45538	0.1347	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.997	D;D;D	0.87578	0.998;0.994;0.985	T	0.26744	-1.0094	10	0.15952	T	0.53	-19.8554	18.7972	0.91999	0.0:1.0:0.0:0.0	.	344;344;769	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	S	769;344;176	ENSP00000347978:T344S	ENSP00000347978:T344S	T	+	2	0	ERCC5	102312531	0.998000	0.40836	0.911000	0.35937	0.166000	0.22503	4.444000	0.60001	2.424000	0.82194	0.655000	0.94253	ACT		0.512	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			12	67	0	0	0	0	12	67				
BAZ1A	11177	broad.mit.edu	37	14	35262044	35262044	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:35262044G>A	ENST00000382422.2	-	11	1774	c.1447C>T	c.(1447-1449)Cag>Tag	p.Q483*	BAZ1A_ENST00000358716.4_Nonsense_Mutation_p.Q483*|BAZ1A_ENST00000360310.1_Nonsense_Mutation_p.Q483*			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	483	DDT. {ECO:0000255|PROSITE- ProRule:PRU00063}.				chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		GCTATTGCCTGGAAGATTGCA	0.398																																						uc001wsk.2		NA																	0				lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7						c.(1447-1449)CAG>TAG		bromodomain adjacent to zinc finger domain, 1A							138.0	125.0	130.0					14																	35262044		2203	4300	6503	SO:0001587	stop_gained	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35262044G>A	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.1447C>T	14.37:g.35262044G>A	ENSP00000371859:p.Gln483*					BAZ1A_uc001wsl.2_Nonsense_Mutation_p.Q483*	p.Q483*	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	12	2015	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		483			DDT.		Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Nonsense_Mutation	SNP	ENST00000382422.2	37	c.1447C>T	CCDS9651.1	.	.	.	.	.	.	.	.	.	.	G	44	10.647346	0.99444	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310;ENST00000543083	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	18.8467	0.92210	0.0:0.0:1.0:0.0	.	.	.	.	X	483;483;483;167	.	ENSP00000351555:Q483X	Q	-	1	0	BAZ1A	34331795	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.844000	0.92147	2.527000	0.85204	0.655000	0.94253	CAG		0.398	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			16	87	0	0	0	0	16	87				
LRFN5	145581	broad.mit.edu	37	14	42356347	42356347	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:42356347G>T	ENST00000298119.4	+	3	1708	c.519G>T	c.(517-519)ttG>ttT	p.L173F	LRFN5_ENST00000554120.1_Missense_Mutation_p.L173F|LRFN5_ENST00000554171.1_Missense_Mutation_p.L173F	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	173						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGGTTAGCTTGCATACCCTTA	0.413										HNSCC(30;0.082)																												uc001wvm.2		NA																	0				ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(517-519)TTG>TTT		leucine rich repeat and fibronectin type III							85.0	71.0	76.0					14																	42356347		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356347G>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.519G>T	14.37:g.42356347G>T	ENSP00000298119:p.Leu173Phe	HNSCC(30;0.082)				LRFN5_uc010ana.2_Missense_Mutation_p.L173F	p.L173F	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	1717	+			173			Extracellular (Potential).|LRR 6.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.519G>T	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.516787	0.44763	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.80994	-1.44;-1.44;-1.44	5.56	4.67	0.58626	.	0.000000	0.44483	D	0.000453	D	0.91991	0.7463	H	0.95328	3.655	0.54753	D	0.99998	D;D	0.76494	0.996;0.999	D;D	0.81914	0.978;0.995	D	0.93449	0.6800	10	0.87932	D	0	.	12.0608	0.53561	0.0834:0.0:0.9166:0.0	.	173;173	G3V364;Q96NI6	.;LRFN5_HUMAN	F	173	ENSP00000298119:L173F;ENSP00000451897:L173F;ENSP00000451067:L173F	ENSP00000298119:L173F	L	+	3	2	LRFN5	41426097	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.349000	0.59385	1.332000	0.45431	0.650000	0.86243	TTG		0.413	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		36	19	1	0	3.93e-24	5.72e-24	36	19				
LRFN5	145581	broad.mit.edu	37	14	42356804	42356804	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:42356804A>T	ENST00000298119.4	+	3	2165	c.976A>T	c.(976-978)Aag>Tag	p.K326*	LRFN5_ENST00000554120.1_Nonsense_Mutation_p.K326*|LRFN5_ENST00000554171.1_Nonsense_Mutation_p.K326*	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	326	Ig-like.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TCCTGAAGGGAAGCTTATTTC	0.458										HNSCC(30;0.082)																												uc001wvm.2		NA																	0				ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(976-978)AAG>TAG		leucine rich repeat and fibronectin type III							128.0	124.0	125.0					14																	42356804		2203	4300	6503	SO:0001587	stop_gained	145581					integral to membrane		g.chr14:42356804A>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.976A>T	14.37:g.42356804A>T	ENSP00000298119:p.Lys326*	HNSCC(30;0.082)				LRFN5_uc010ana.2_Nonsense_Mutation_p.K326*	p.K326*	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	2174	+			326			Extracellular (Potential).|Ig-like.		B3KU78|Q86XL2	Nonsense_Mutation	SNP	ENST00000298119.4	37	c.976A>T	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	A	46	12.795307	0.99697	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	.	.	.	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	13.6708	0.62424	1.0:0.0:0.0:0.0	.	.	.	.	X	326	.	ENSP00000298119:K326X	K	+	1	0	LRFN5	41426554	0.995000	0.38212	0.996000	0.52242	0.983000	0.72400	3.367000	0.52350	2.165000	0.68154	0.460000	0.39030	AAG		0.458	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		17	154	0	0	0	0	17	154				
FSCB	84075	broad.mit.edu	37	14	44976037	44976037	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:44976037A>G	ENST00000340446.4	-	1	445	c.154T>C	c.(154-156)Tct>Cct	p.S52P	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	52						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AGCTCAGAAGATACTCTAATA	0.418																																						uc001wvn.2		NA																	0				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(154-156)TCT>CCT		fibrous sheath CABYR binding protein							166.0	163.0	164.0					14																	44976037		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44976037A>G	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.154T>C	14.37:g.44976037A>G	ENSP00000344579:p.Ser52Pro						p.S52P	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	463	-			52					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.154T>C	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	A	14.51	2.557796	0.45590	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.34472	1.36	5.49	5.49	0.81192	.	.	.	.	.	T	0.55625	0.1932	L	0.59436	1.845	0.32304	N	0.564633	D	0.89917	1.0	D	0.97110	1.0	T	0.65788	-0.6083	9	0.87932	D	0	-23.2346	12.2936	0.54833	1.0:0.0:0.0:0.0	.	52	Q5H9T9	FSCB_HUMAN	P	52	ENSP00000344579:S52P	ENSP00000344579:S52P	S	-	1	0	FSCB	44045787	1.000000	0.71417	0.971000	0.41717	0.046000	0.14306	2.996000	0.49449	2.227000	0.72691	0.454000	0.30748	TCT		0.418	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		71	173	0	0	0	0	71	173				
SOCS4	122809	broad.mit.edu	37	14	55510854	55510854	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:55510854G>A	ENST00000395472.2	+	2	1427	c.1095G>A	c.(1093-1095)aaG>aaA	p.K365K	SOCS4_ENST00000339298.2_Silent_p.K365K|SOCS4_ENST00000555846.1_Silent_p.K365K	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	365	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						AACATTATAAGGACCCAAGCG	0.423																																						uc001xbo.2		NA																	0				ovary(1)|kidney(1)	2						c.(1093-1095)AAG>AAA		suppressor of cytokine signaling 4							91.0	88.0	89.0					14																	55510854		2203	4300	6503	SO:0001819	synonymous_variant	122809				intracellular signal transduction|negative regulation of signal transduction|regulation of growth			g.chr14:55510854G>A	AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19392	protein-coding gene	gene with protein product			"""suppressor of cytokine signaling 7"""	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.1095G>A	14.37:g.55510854G>A						SOCS4_uc001xbp.2_Silent_p.K365K	p.K365K	NM_199421	NP_955453	Q8WXH5	SOCS4_HUMAN			3	1660	+			365			SH2.			Silent	SNP	ENST00000395472.2	37	c.1095G>A	CCDS9722.1																																																																																				0.423	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276910.1			44	47	0	0	0	0	44	47				
SYNE2	23224	broad.mit.edu	37	14	64468757	64468757	+	Silent	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:64468757A>G	ENST00000344113.4	+	29	3956	c.3744A>G	c.(3742-3744)ggA>ggG	p.G1248G	SYNE2_ENST00000554584.1_Silent_p.G1248G|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Silent_p.G1248G	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1248					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCATCCAGGGATTTCATCTCA	0.418																																						uc001xgm.2		NA																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(3742-3744)GGA>GGG		spectrin repeat containing, nuclear envelope 2							131.0	128.0	129.0					14																	64468757		1914	4111	6025	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64468757A>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.3744A>G	14.37:g.64468757A>G						SYNE2_uc001xgl.2_Silent_p.G1248G	p.G1248G	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	29	3974	+			1248			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.3744A>G	CCDS41963.1																																																																																				0.418	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		94	99	0	0	0	0	94	99				
DCAF5	8816	broad.mit.edu	37	14	69542127	69542127	+	Splice_Site	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:69542127T>C	ENST00000341516.5	-	7	1028	c.881A>G	c.(880-882)tAt>tGt	p.Y294C	DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000557386.1_Splice_Site_p.Y293C|DCAF5_ENST00000556847.1_Splice_Site_p.Y212C|DCAF5_ENST00000554215.1_Splice_Site_p.Y212C	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	294					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						CGAAAGGATATACTGTTGGAA	0.308																																						uc001xkp.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(880-882)TAT>TGT		WD repeat domain 22							97.0	102.0	100.0					14																	69542127		2203	4300	6503	SO:0001630	splice_region_variant	8816					CUL4 RING ubiquitin ligase complex		g.chr14:69542127T>C	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.880-1A>G	14.37:g.69542127T>C						DCAF5_uc001xkq.2_Missense_Mutation_p.Y293C	p.Y294C	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN			7	1100	-			294			WD 5.		B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	ENST00000341516.5	37	c.881A>G	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	T	19.11	3.764247	0.69878	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.28	5.28	0.74379	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.60715	0.2290	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.992;0.997	T	0.67730	-0.5595	10	0.66056	D	0.02	-12.2923	14.332	0.66564	0.0:0.0:0.0:1.0	.	293;294	G3V4J7;Q96JK2	.;DCAF5_HUMAN	C	294;212;212;293	ENSP00000341351:Y294C;ENSP00000451551:Y212C;ENSP00000452052:Y212C;ENSP00000451845:Y293C	ENSP00000341351:Y294C	Y	-	2	0	DCAF5	68611880	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.168000	0.71908	2.213000	0.71641	0.477000	0.44152	TAT		0.308	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861	Missense_Mutation	40	101	0	0	0	0	40	101				
ADAM21	8747	broad.mit.edu	37	14	70924226	70924226	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:70924226G>C	ENST00000603540.1	+	2	268	c.10G>C	c.(10-12)Gat>Cat	p.D4H	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.D4H	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	4					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AATGGCAGTGGATGGGACCCT	0.537																																						uc001xmd.2		NA																	0				pancreas(1)|skin(1)	2						c.(10-12)GAT>CAT		ADAM metallopeptidase domain 21 preproprotein							74.0	87.0	83.0					14																	70924226		2203	4296	6499	SO:0001583	missense	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70924226G>C	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.10G>C	14.37:g.70924226G>C	ENSP00000474385:p.Asp4His						p.D4H	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	1	10	+			4					O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	c.10G>C	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	G	4.564	0.104837	0.08731	.	.	ENSG00000139985	ENST00000267499	T	0.01172	5.23	1.47	-0.541	0.11858	.	1.834680	0.04623	U	0.402251	T	0.01029	0.0034	N	0.08118	0	0.09310	N	1	P	0.41366	0.747	B	0.43701	0.428	T	0.42137	-0.9469	10	0.52906	T	0.07	.	4.0983	0.10002	0.4226:0.0:0.5774:0.0	.	4	Q9UKJ8	ADA21_HUMAN	H	4	ENSP00000267499:D4H	ENSP00000267499:D4H	D	+	1	0	ADAM21	69993979	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.504000	0.06375	-0.172000	0.10779	0.313000	0.20887	GAT		0.537	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			16	186	0	0	0	0	16	186				
GPATCH2L	55668	broad.mit.edu	37	14	76633013	76633013	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:76633013A>C	ENST00000261530.7	+	3	736	c.670A>C	c.(670-672)Agc>Cgc	p.S224R	GPATCH2L_ENST00000556663.1_Missense_Mutation_p.S224R|GPATCH2L_ENST00000557263.1_Missense_Mutation_p.S224R|GPATCH2L_ENST00000312858.5_Missense_Mutation_p.S224R	NM_017926.2	NP_060396.2	Q9NWQ4	GPT2L_HUMAN	G patch domain containing 2-like	224																	CAGTGAAACCAGCAGTGTGTG	0.433																																						uc001xsh.2		NA																	0				ovary(2)|skin(1)	3						c.(670-672)AGC>CGC		hypothetical protein LOC55668 isoform 1							135.0	120.0	125.0					14																	76633013		2203	4300	6503	SO:0001583	missense	55668							g.chr14:76633013A>C	AK000696	CCDS9848.1, CCDS9849.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000089916	ENSG00000089916			20210	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 118"""	C14orf118		10574461	Standard	NM_017926		Approved	FLJ20689, FLJ10033	uc001xsh.3	Q9NWQ4	OTTHUMG00000171490	ENST00000261530.7:c.670A>C	14.37:g.76633013A>C	ENSP00000261530:p.Ser224Arg					C14orf118_uc001xsi.2_Missense_Mutation_p.S224R|C14orf118_uc001xsj.1_Missense_Mutation_p.S224R|C14orf118_uc001xsk.1_Missense_Mutation_p.S224R|C14orf118_uc001xsl.2_RNA	p.S224R	NM_017926	NP_060396	Q9NWQ4	CN118_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0172)	3	756	+			224					B3KN42|Q6PEJ7|Q9H3M3|Q9NWH0|Q9ULR8	Missense_Mutation	SNP	ENST00000261530.7	37	c.670A>C	CCDS9848.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.453715	0.84209	.	.	ENSG00000089916	ENST00000336993;ENST00000557263;ENST00000312858;ENST00000261530;ENST00000556663	T;T;T;T	0.71579	0.78;-0.56;-0.58;0.78	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.81969	0.4935	M	0.66297	2.02	0.80722	D	1	D;D;D	0.76494	0.997;0.994;0.999	D;D;D	0.80764	0.986;0.983;0.994	D	0.84130	0.0411	10	0.87932	D	0	-15.271	13.6749	0.62447	1.0:0.0:0.0:0.0	.	224;224;224	Q9NWQ4-1;Q9NWQ4-4;Q9NWQ4	.;.;CN118_HUMAN	R	224	ENSP00000451587:S224R;ENSP00000323775:S224R;ENSP00000261530:S224R;ENSP00000450657:S224R	ENSP00000261530:S224R	S	+	1	0	C14orf118	75702766	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.056000	0.76662	1.960000	0.56953	0.482000	0.46254	AGC		0.433	GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000413698.2	NM_017926		15	31	0	0	0	0	15	31				
IFI27L1	122509	broad.mit.edu	37	14	94568245	94568245	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:94568245G>T	ENST00000555523.1	+	4	366	c.147G>T	c.(145-147)aaG>aaT	p.K49N	IFI27L1_ENST00000553350.1_Intron|IFI27L1_ENST00000556381.1_Missense_Mutation_p.K48N|IFI27L1_ENST00000557218.1_Intron|IFI27L1_ENST00000553664.1_Missense_Mutation_p.D72Y|IFI27L1_ENST00000557066.1_Intron|IFI27L1_ENST00000554544.1_Intron|IFI27L1_ENST00000554562.1_Missense_Mutation_p.K49N|IFI27L1_ENST00000393115.3_Missense_Mutation_p.K49N	NM_206949.2	NP_996832.1	Q96BM0	I27L1_HUMAN	interferon, alpha-inducible protein 27-like 1	49						integral component of membrane (GO:0016021)				lung(2)	2						TAGCAGCCAAGATGATGTCTA	0.592																																						uc001ycl.2		NA																	0					0						c.(145-147)AAG>AAT		interferon, alpha-inducible protein 27-like 1							120.0	96.0	104.0					14																	94568245		2203	4300	6503	SO:0001583	missense	122509					integral to membrane		g.chr14:94568245G>T	BC015423	CCDS9919.1	14q32.13	2008-10-08	2008-10-08	2008-10-08		ENSG00000165948			19754	protein-coding gene	gene with protein product		611320	"""family with sequence similarity 14, member B"""	FAM14B			Standard	NM_145249		Approved		uc001yck.3	Q96BM0		ENST00000555523.1:c.147G>T	14.37:g.94568245G>T	ENSP00000451851:p.Lys49Asn					IFI27L1_uc001yck.2_Missense_Mutation_p.K49N	p.K49N	NM_206949	NP_996832	Q96BM0	I27L1_HUMAN			4	355	+			49						Missense_Mutation	SNP	ENST00000555523.1	37	c.147G>T	CCDS9919.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.188|5.188	0.220169|0.220169	0.09863|0.09863	.|.	.|.	ENSG00000165948|ENSG00000165948	ENST00000553664|ENST00000555523;ENST00000393115;ENST00000554166;ENST00000556381;ENST00000555341;ENST00000554562	.|T;T;T;T;T;T	.|0.34275	.|1.37;1.37;1.37;1.37;1.37;1.37	3.48|3.48	1.57|1.57	0.23409|0.23409	.|.	.|0.526148	.|0.16939	.|U	.|0.193343	T|T	0.40909|0.40909	0.1136|0.1136	M|M	0.76574|0.76574	2.34|2.34	0.26020|0.26020	N|N	0.981884|0.981884	.|P	.|0.43826	.|0.818	.|P	.|0.47102	.|0.537	T|T	0.31724|0.31724	-0.9933|-0.9933	5|10	.|0.66056	.|D	.|0.02	.|.	4.6553|4.6553	0.12615|0.12615	0.1262:0.2265:0.6473:0.0|0.1262:0.2265:0.6473:0.0	.|.	.|49	.|Q96BM0	.|I27L1_HUMAN	Y|N	72|49;49;48;48;48;49	.|ENSP00000451851:K49N;ENSP00000376824:K49N;ENSP00000452226:K48N;ENSP00000451459:K48N;ENSP00000451608:K48N;ENSP00000450620:K49N	.|ENSP00000376824:K49N	D|K	+|+	1|3	0|2	IFI27L1|IFI27L1	93637998|93637998	0.785000|0.785000	0.28726|0.28726	0.976000|0.976000	0.42696|0.42696	0.003000|0.003000	0.03518|0.03518	0.284000|0.284000	0.18864|0.18864	0.454000|0.454000	0.26884|0.26884	0.591000|0.591000	0.81541|0.81541	GAT|AAG		0.592	IFI27L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412868.1	NM_206949		13	49	1	0	2.23e-06	2.63e-06	13	49				
NPAP1	23742	broad.mit.edu	37	15	24921689	24921689	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr15:24921689C>T	ENST00000329468.2	+	1	1149	c.675C>T	c.(673-675)gcC>gcT	p.A225A		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	225					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GTGAGAAGGCCCAGGCGTCTC	0.612																																						uc001ywo.2		NA																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(673-675)GCC>GCT		hypothetical protein LOC23742							34.0	35.0	35.0					15																	24921689		2203	4300	6503	SO:0001819	synonymous_variant	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921689C>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.675C>T	15.37:g.24921689C>T							p.A225A	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	1149	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	225						Silent	SNP	ENST00000329468.2	37	c.675C>T	CCDS10015.1																																																																																				0.612	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		8	35	0	0	0	0	8	35				
ATP10A	57194	broad.mit.edu	37	15	25962006	25962006	+	Silent	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr15:25962006G>T	ENST00000356865.6	-	9	1758	c.1647C>A	c.(1645-1647)gcC>gcA	p.A549A		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	549					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCCTCGCCACGGCTAGGCTCT	0.587																																						uc010ayu.2		NA																	0				pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(1645-1647)GCC>GCA		ATPase, class V, type 10A							135.0	97.0	110.0					15																	25962006		2203	4300	6503	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25962006G>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1647C>A	15.37:g.25962006G>T							p.A549A	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	9	1753	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	549			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.1647C>A	CCDS32178.1																																																																																				0.587	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		12	52	1	0	0.000219431	0.000242172	12	52				
RYR3	6263	broad.mit.edu	37	15	34021144	34021144	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr15:34021144G>T	ENST00000389232.4	+	47	7190	c.7120G>T	c.(7120-7122)Ggc>Tgc	p.G2374C	RYR3_ENST00000415757.3_Missense_Mutation_p.G2374C	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2374	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)		CCGCGTTTATGGCATTAAGGA	0.463																																						uc001zhi.2		NA																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(7120-7122)GGC>TGC		ryanodine receptor 3							79.0	78.0	78.0					15																	34021144		1869	4104	5973	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34021144G>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.7120G>T	15.37:g.34021144G>T	ENSP00000373884:p.Gly2374Cys					RYR3_uc010bar.2_Missense_Mutation_p.G2374C	p.G2374C	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)	47	7190	+		all_lung(180;7.18e-09)	2374			4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.7120G>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225003	0.79576	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.94232	-3.38;-3.38	4.85	3.93	0.45458	.	0.058374	0.64402	D	0.000002	D	0.96592	0.8888	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97060	0.9770	10	0.87932	D	0	.	13.278	0.60198	0.0766:0.0:0.9234:0.0	.	2374;2374	Q15413-2;Q15413	.;RYR3_HUMAN	C	2374	ENSP00000373884:G2374C;ENSP00000399610:G2374C	ENSP00000354735:G2374C	G	+	1	0	RYR3	31808436	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.282000	0.72639	1.411000	0.46957	0.563000	0.77884	GGC		0.463	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			9	12	1	0	1.13e-05	1.29e-05	9	12				
IVD	3712	broad.mit.edu	37	15	40710403	40710403	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr15:40710403G>T	ENST00000249760.2	+	12	1556	c.1213G>T	c.(1213-1215)Ggg>Tgg	p.G405W	IVD_ENST00000487418.2_Missense_Mutation_p.G408W|IVD_ENST00000479013.2_Missense_Mutation_p.G378W	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	405	Substrate binding.				branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	flavin adenine dinucleotide binding (GO:0050660)|isovaleryl-CoA dehydrogenase activity (GO:0008470)			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)	Flavin adenine dinucleotide(DB03147)	GATAGGGGCTGGGACCAGCGA	0.567																																					GBM(31;293 617 7486 32527 34655)	uc001zls.3		NA																	0				ovary(1)	1						c.(1222-1224)GGG>TGG		isovaleryl Coenzyme A dehydrogenase isoform 1							102.0	97.0	98.0					15																	40710403		2203	4300	6503	SO:0001583	missense	3712				leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity	g.chr15:40710403G>T	AF038317	CCDS10057.1, CCDS10057.2, CCDS53930.1	15q14-q15	2010-05-11	2010-05-11		ENSG00000128928	ENSG00000128928	1.3.99.10		6186	protein-coding gene	gene with protein product		607036	"""isovaleryl Coenzyme A dehydrogenase"", ""isovaleryl CoA dehydrogenase"""			2063866	Standard	NM_002225		Approved	ACAD2	uc001zls.3	P26440	OTTHUMG00000129984	ENST00000249760.2:c.1213G>T	15.37:g.40710403G>T	ENSP00000249760:p.Gly405Trp					IVD_uc001zlq.2_Missense_Mutation_p.G378W|IVD_uc001zlr.2_Missense_Mutation_p.G111W	p.G408W	NM_002225	NP_002216	P26440	IVD_HUMAN		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)	12	1556	+		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	405			Substrate binding.		B2RCV5|B3KVI7|J3KR54|Q53XZ9|Q96AF6	Missense_Mutation	SNP	ENST00000249760.2	37	c.1222G>T		.	.	.	.	.	.	.	.	.	.	G	25.0	4.596321	0.86953	.	.	ENSG00000128928	ENST00000249760;ENST00000479013;ENST00000487418	D;D;D	0.99961	-9.25;-9.25;-9.25	5.15	4.21	0.49690	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99975	0.9992	H	0.99903	4.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97237	0.9888	10	0.87932	D	0	.	14.7458	0.69490	0.0:0.0:0.8541:0.1459	.	405;378	P26440;B3KVI7	IVD_HUMAN;.	W	405;378;408	ENSP00000249760:G405W;ENSP00000417990:G378W;ENSP00000418397:G408W	ENSP00000249760:G405W	G	+	1	0	IVD	38497695	1.000000	0.71417	0.984000	0.44739	0.982000	0.71751	9.680000	0.98651	1.108000	0.41662	0.491000	0.48974	GGG		0.567	IVD-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				14	53	1	0	9.17e-09	1.15e-08	14	53				
TP53BP1	7158	broad.mit.edu	37	15	43784507	43784507	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr15:43784507T>C	ENST00000263801.3	-	2	404	c.152A>G	c.(151-153)cAg>cGg	p.Q51R	TP53BP1_ENST00000382044.4_Missense_Mutation_p.Q56R|TP53BP1_ENST00000450115.2_Missense_Mutation_p.Q56R|TP53BP1_ENST00000382039.3_Missense_Mutation_p.Q56R	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	51					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TTTGTGCGTCTGGAGATTAGG	0.393								Other conserved DNA damage response genes																														uc001zrs.2		NA																	0				ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7						c.(151-153)CAG>CGG	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	tumor protein p53 binding protein 1 isoform 3							128.0	132.0	131.0					15																	43784507		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43784507T>C	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.152A>G	15.37:g.43784507T>C	ENSP00000263801:p.Gln51Arg					TP53BP1_uc010udp.1_Missense_Mutation_p.Q51R|TP53BP1_uc001zrq.3_Missense_Mutation_p.Q56R|TP53BP1_uc001zrr.3_Missense_Mutation_p.Q56R|TP53BP1_uc010udq.1_Missense_Mutation_p.Q56R	p.Q51R	NM_005657	NP_005648	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	2	300	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	51					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.152A>G	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	T	15.10	2.733727	0.48939	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.15372	3.29;3.28;3.28;3.28;2.43	4.62	4.62	0.57501	.	0.084385	0.49305	D	0.000155	T	0.37625	0.1010	M	0.71581	2.175	0.44685	D	0.997675	D;P;D;D	0.60160	0.987;0.936;0.962;0.962	D;P;D;D	0.67725	0.953;0.885;0.946;0.946	T	0.10405	-1.0631	10	0.46703	T	0.11	-8.5915	12.2977	0.54857	0.0:0.0:0.0:1.0	.	56;51;56;56	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	R	51;56;56;56;56	ENSP00000263801:Q51R;ENSP00000371475:Q56R;ENSP00000371470:Q56R;ENSP00000393497:Q56R;ENSP00000388028:Q56R	ENSP00000263801:Q51R	Q	-	2	0	TP53BP1	41571799	1.000000	0.71417	0.934000	0.37439	0.300000	0.27592	3.836000	0.55813	2.091000	0.63221	0.438000	0.28831	CAG		0.393	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			3	96	0	0	0	0	3	96				
C15orf43	145645	broad.mit.edu	37	15	45253759	45253759	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr15:45253759G>C	ENST00000340827.3	+	4	342	c.325G>C	c.(325-327)Gac>Cac	p.D109H	RNU6-1332P_ENST00000516666.1_RNA	NM_152448.2	NP_689661.1	Q8NHR7	CO043_HUMAN	chromosome 15 open reading frame 43	109										NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		TTGGGAACAAGACCAACATTT	0.284																																						uc001zuk.2		NA																	0					0						c.(325-327)GAC>CAC		hypothetical protein LOC145645							65.0	62.0	63.0					15																	45253759		2197	4294	6491	SO:0001583	missense	145645							g.chr15:45253759G>C	BC029537	CCDS10115.1	15q21.1	2006-02-03			ENSG00000167014	ENSG00000167014			28520	protein-coding gene	gene with protein product							Standard	NM_152448		Approved	MGC33951	uc001zuk.4	Q8NHR7	OTTHUMG00000131264	ENST00000340827.3:c.325G>C	15.37:g.45253759G>C	ENSP00000340644:p.Asp109His						p.D109H	NM_152448	NP_689661	Q8NHR7	CO043_HUMAN		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)	4	342	+		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)	109						Missense_Mutation	SNP	ENST00000340827.3	37	c.325G>C	CCDS10115.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062357	0.36373	.	.	ENSG00000167014	ENST00000340827	T	0.56103	0.48	4.4	3.2	0.36748	.	0.334872	0.26784	N	0.022519	T	0.45875	0.1364	N	0.24115	0.695	0.35813	D	0.824023	D	0.55385	0.971	P	0.55161	0.77	T	0.55623	-0.8112	10	0.59425	D	0.04	.	5.3884	0.16229	0.1934:0.0:0.8066:0.0	.	109	Q8NHR7	CO043_HUMAN	H	109	ENSP00000340644:D109H	ENSP00000340644:D109H	D	+	1	0	C15orf43	43041051	0.994000	0.37717	1.000000	0.80357	0.988000	0.76386	1.314000	0.33597	2.160000	0.67779	0.549000	0.68633	GAC		0.284	C15orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254032.1	NM_152448		3	63	0	0	0	0	3	63				
FBN1	2200	broad.mit.edu	37	15	48720627	48720627	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr15:48720627C>A	ENST00000316623.5	-	57	7368	c.6913G>T	c.(6913-6915)Ggg>Tgg	p.G2305W		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2305	EGF-like 40; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGGCAGCGCCCATTCTCACAG	0.488																																						uc001zwx.1		NA																	0				ovary(2)|large_intestine(1)	3						c.(6913-6915)GGG>TGG		fibrillin 1 precursor							141.0	106.0	118.0					15																	48720627		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48720627C>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.6913G>T	15.37:g.48720627C>A	ENSP00000325527:p.Gly2305Trp					FBN1_uc010beo.1_RNA	p.G2305W	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	57	7241	-		all_lung(180;0.00279)	2305			EGF-like 40; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.6913G>T	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.967365	0.92855	.	.	ENSG00000166147	ENST00000316623;ENST00000389087	D	0.89343	-2.5	5.76	5.76	0.90799	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97123	0.9060	H	0.98370	4.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98258	1.0497	10	0.87932	D	0	.	19.5738	0.95432	0.0:1.0:0.0:0.0	.	2305	P35555	FBN1_HUMAN	W	2305;873	ENSP00000325527:G2305W	ENSP00000325527:G2305W	G	-	1	0	FBN1	46507919	1.000000	0.71417	0.974000	0.42286	0.848000	0.48234	7.818000	0.86416	2.719000	0.93026	0.555000	0.69702	GGG		0.488	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			18	15	1	0	3.33e-07	4e-07	18	15				
FAM227B	196951	broad.mit.edu	37	15	49880219	49880219	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr15:49880219C>T	ENST00000299338.6	-	5	702	c.399G>A	c.(397-399)aaG>aaA	p.K133K	FAM227B_ENST00000558862.1_5'Flank|FAM227B_ENST00000558594.1_Silent_p.K133K|FAM227B_ENST00000560246.1_Silent_p.K133K|FAM227B_ENST00000561064.1_Silent_p.K133K	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	133																	ATACCATTATCTTTTTTTTCT	0.269																																						uc001zxl.2		NA																	0				ovary(1)	1						c.(397-399)AAG>AAA		hypothetical protein LOC196951							57.0	60.0	59.0					15																	49880219		2191	4279	6470	SO:0001819	synonymous_variant	196951							g.chr15:49880219C>T		CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 33"""	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.399G>A	15.37:g.49880219C>T						C15orf33_uc001zxm.2_Silent_p.K133K	p.K133K	NM_152647	NP_689860	Q96M60	CO033_HUMAN		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)	5	693	-		all_lung(180;0.00187)	133					Q86WS2	Silent	SNP	ENST00000299338.6	37	c.399G>A	CCDS32237.1																																																																																				0.269	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417872.1	NM_152647		9	22	0	0	0	0	9	22				
IL16	3603	broad.mit.edu	37	15	81517986	81517986	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr15:81517986G>T	ENST00000302987.4	+	1	246	c.246G>T	c.(244-246)gaG>gaT	p.E82D	IL16_ENST00000394660.2_Missense_Mutation_p.E82D			Q14005	IL16_HUMAN	interleukin 16	82					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TGGCCTCGGAGGCTGCTCAAC	0.567																																						uc002bgh.3		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(244-246)GAG>GAT		interleukin 16 isoform 2							40.0	41.0	41.0					15																	81517986		2022	4177	6199	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81517986G>T	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.246G>T	15.37:g.81517986G>T	ENSP00000302935:p.Glu82Asp					IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Missense_Mutation_p.E82D|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.E124D|IL16_uc002bgg.2_Missense_Mutation_p.E82D	p.E82D	NM_172217	NP_757366	Q14005	IL16_HUMAN			2	622	+			82					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.246G>T	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	G	3.561	-0.089701	0.07053	.	.	ENSG00000172349	ENST00000394655;ENST00000360547;ENST00000394660;ENST00000302987	T;T	0.11063	2.81;2.81	3.77	2.84	0.33178	.	0.988290	0.08203	N	0.981954	T	0.09158	0.0226	L	0.36672	1.1	0.18873	N	0.999982	B;B	0.09022	0.001;0.002	B;B	0.09377	0.002;0.004	T	0.40942	-0.9536	10	0.21014	T	0.42	.	7.1796	0.25765	0.1019:0.441:0.4571:0.0	.	82;82	Q14005;Q14005-2	IL16_HUMAN;.	D	82;124;82;82	ENSP00000378155:E82D;ENSP00000302935:E82D	ENSP00000302935:E82D	E	+	3	2	IL16	79305041	0.036000	0.19791	0.497000	0.27552	0.014000	0.08584	0.073000	0.14640	0.759000	0.33084	0.563000	0.77884	GAG		0.567	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		6	25	1	0	8.13e-05	9.06e-05	6	25				
SRRM2	23524	broad.mit.edu	37	16	2811881	2811881	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr16:2811881G>A	ENST00000301740.8	+	11	1901	c.1352G>A	c.(1351-1353)cGa>cAa	p.R451Q		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	451	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						GGGTCCCACCGAGAGATTTCT	0.542																																						uc002crk.2		NA																	0				ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(1351-1353)CGA>CAA		splicing coactivator subunit SRm300							120.0	128.0	125.0					16																	2811881		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.chr16:2811881G>A	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.1352G>A	16.37:g.2811881G>A	ENSP00000301740:p.Arg451Gln					SRRM2_uc002crj.1_Missense_Mutation_p.R355Q|SRRM2_uc002crl.1_Missense_Mutation_p.R451Q|SRRM2_uc010bsu.1_Missense_Mutation_p.R355Q	p.R451Q	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	1901	+			451			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.1352G>A	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338891	0.41398	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	T	0.26660	1.72	5.88	5.88	0.94601	.	0.000000	0.48767	D	0.000177	T	0.36303	0.0962	N	0.24115	0.695	0.28062	N	0.932915	D	0.69078	0.997	D	0.70227	0.968	T	0.15665	-1.0429	10	0.37606	T	0.19	-7.7136	15.7423	0.77910	0.0:0.0:1.0:0.0	.	451	Q9UQ35	SRRM2_HUMAN	Q	451;451;416	ENSP00000301740:R451Q	ENSP00000301740:R451Q	R	+	2	0	SRRM2	2751882	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	3.221000	0.51215	2.782000	0.95742	0.655000	0.94253	CGA		0.542	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			4	134	0	0	0	0	4	134				
CREBBP	1387	broad.mit.edu	37	16	3781826	3781826	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr16:3781826G>A	ENST00000262367.5	-	29	5650	c.4841C>T	c.(4840-4842)tCc>tTc	p.S1614F	CREBBP_ENST00000382070.3_Missense_Mutation_p.S1576F	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1614	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CAGGTCATTGGACACGTTGGG	0.557			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2		NA		Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		0				haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(4840-4842)TCC>TTC		CREB binding protein isoform a							452.0	363.0	393.0					16																	3781826		2197	4300	6497	SO:0001583	missense	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3781826G>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4841C>T	16.37:g.3781826G>A	ENSP00000262367:p.Ser1614Phe					CREBBP_uc002cvw.2_Missense_Mutation_p.S1576F	p.S1614F	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	29	5045	-		Ovarian(90;0.0266)	1614			Interaction with TRERF1.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.4841C>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	g	15.34	2.805871	0.50421	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.93604	-3.25;-3.25	5.61	5.61	0.85477	.	0.075780	0.56097	D	0.000023	D	0.93828	0.8026	M	0.69358	2.11	0.48395	D	0.999649	D;D	0.55385	0.971;0.971	P;P	0.49140	0.601;0.601	D	0.94004	0.7278	10	0.59425	D	0.04	-17.123	15.1578	0.72759	0.0:0.1406:0.8593:0.0	.	1644;1614	Q4LE28;Q92793	.;CBP_HUMAN	F	1614;1644;1576	ENSP00000262367:S1614F;ENSP00000371502:S1576F	ENSP00000262367:S1614F	S	-	2	0	CREBBP	3721827	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.884000	0.87274	2.644000	0.89710	0.561000	0.74099	TCC		0.557	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		19	52	0	0	0	0	19	52				
CIITA	4261	broad.mit.edu	37	16	10995377	10995377	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr16:10995377C>A	ENST00000324288.8	+	6	576	c.443C>A	c.(442-444)cCa>cAa	p.P148Q	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Missense_Mutation_p.P148Q	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	148					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GCAGCCTTCCCAGAGGAGCTT	0.602			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	uc002dai.3		NA		Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75		PMBL|Hodgkin Lymphona|		0				central_nervous_system(1)	1						c.(442-444)CCA>CAA		class II transactivator							53.0	47.0	49.0					16																	10995377		2197	4300	6497	SO:0001583	missense	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:10995377C>A	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.443C>A	16.37:g.10995377C>A	ENSP00000316328:p.Pro148Gln					CIITA_uc002daj.3_Missense_Mutation_p.P149Q|CIITA_uc002dak.3_Missense_Mutation_p.P148Q|CIITA_uc002dag.2_Missense_Mutation_p.P148Q|CIITA_uc002dah.2_Missense_Mutation_p.P149Q|CIITA_uc010bup.1_Missense_Mutation_p.P148Q	p.P148Q	NM_000246	NP_000237	P33076	C2TA_HUMAN			6	576	+			148					A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	c.443C>A	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.872723	0.51695	.	.	ENSG00000179583	ENST00000324288;ENST00000381835;ENST00000388910;ENST00000537380	T;T	0.79141	-1.24;1.56	3.22	3.22	0.36961	.	0.154621	0.30455	N	0.009600	D	0.82949	0.5148	L	0.54323	1.7	0.27890	N	0.939366	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.998;0.997;1.0	D;D;D;D;D;D	0.80764	0.982;0.994;0.945;0.945;0.923;0.968	T	0.74355	-0.3692	10	0.72032	D	0.01	.	10.2256	0.43222	0.0:1.0:0.0:0.0	.	148;148;148;148;149;148	F5H2J4;E9PFE0;A0N0N9;P33076;F2Z2G8;Q96KL4	.;.;.;C2TA_HUMAN;.;.	Q	148;148;149;148	ENSP00000316328:P148Q;ENSP00000371257:P148Q	ENSP00000316328:P148Q	P	+	2	0	CIITA	10902878	0.991000	0.36638	1.000000	0.80357	0.893000	0.52053	1.622000	0.36997	2.126000	0.65437	0.462000	0.41574	CCA		0.602	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		12	20	1	0	6.72e-11	8.82e-11	12	20				
MARVELD3	91862	broad.mit.edu	37	16	71668181	71668181	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr16:71668181G>A	ENST00000268485.3	+	3	725	c.681G>A	c.(679-681)acG>acA	p.T227T	MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000567501.1_Missense_Mutation_p.G41R|MARVELD3_ENST00000299952.4_Intron	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	227	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)		p.T227T(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GGGGCTACACGGGCATCACCA	0.557																																						uc002fat.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(679-681)ACG>ACA		MARVEL domain containing 3 isoform 2							94.0	97.0	96.0					16																	71668181		2198	4300	6498	SO:0001819	synonymous_variant	91862					integral to membrane		g.chr16:71668181G>A	BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"""MARVEL (membrane-associating) domain containing 3"""	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000268485.3:c.681G>A	16.37:g.71668181G>A						MARVELD3_uc002fau.2_Intron|MARVELD3_uc010cge.2_Intron	p.T227T	NM_052858	NP_443090	Q96A59	MALD3_HUMAN			3	744	+		Ovarian(137;0.125)	227			MARVEL.|Helical; (Potential).		A8K820|H3BQM5|Q96MJ4	Silent	SNP	ENST00000268485.3	37	c.681G>A	CCDS10904.1																																																																																				0.557	MARVELD3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268991.2	NM_052858		4	134	0	0	0	0	4	134				
CNTNAP4	85445	broad.mit.edu	37	16	76389225	76389225	+	Silent	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr16:76389225C>A	ENST00000476707.1	+	2	355	c.216C>A	c.(214-216)ggC>ggA	p.G72G	CNTNAP4_ENST00000478060.1_Silent_p.G44G|CNTNAP4_ENST00000307431.8_Silent_p.G68G|CNTNAP4_ENST00000377504.4_Silent_p.G68G|CNTNAP4_ENST00000469589.1_3'UTR			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	69	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GAGCTGGTGGCTGGTCTCCAC	0.413																																						uc002feu.1		NA																	0				ovary(1)|pancreas(1)	2						c.(205-207)GGC>GGA		cell recognition protein CASPR4 isoform 1							45.0	44.0	44.0					16																	76389225		2198	4300	6498	SO:0001819	synonymous_variant	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76389225C>A	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.216C>A	16.37:g.76389225C>A						CNTNAP4_uc002fev.1_Translation_Start_Site|CNTNAP4_uc010chb.1_Silent_p.G44G|CNTNAP4_uc002fex.1_Silent_p.G72G|CNTNAP4_uc002few.2_Silent_p.G44G	p.G69G	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			5	592	+			69			Extracellular (Potential).|F5/8 type C.		E9PFZ6|Q86YZ7	Silent	SNP	ENST00000476707.1	37	c.207C>A																																																																																					0.413	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		6	34	1	0	5.49e-09	6.96e-09	6	34				
PLCG2	5336	broad.mit.edu	37	16	81942171	81942171	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr16:81942171C>G	ENST00000359376.3	+	17	1922	c.1708C>G	c.(1708-1710)Ccc>Gcc	p.P570A		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	570	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CGAGACCTTCCCCAATGACTA	0.592																																						uc002fgt.2		NA																	0				large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						c.(1708-1710)CCC>GCC		phospholipase C, gamma 2							74.0	79.0	78.0					16																	81942171		2049	4180	6229	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81942171C>G		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1708C>G	16.37:g.81942171C>G	ENSP00000352336:p.Pro570Ala					PLCG2_uc010chg.1_Missense_Mutation_p.P570A	p.P570A	NM_002661	NP_002652	P16885	PLCG2_HUMAN			17	1860	+			570			SH2 1.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.1708C>G	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676800	0.47886	.	.	ENSG00000197943	ENST00000359376	D	0.89343	-2.5	4.85	4.85	0.62838	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);SH2 motif (4);	0.244141	0.42682	D	0.000671	D	0.85847	0.5792	L	0.43701	1.375	0.44523	D	0.997479	B;B	0.10296	0.001;0.003	B;B	0.06405	0.002;0.002	T	0.81942	-0.0702	10	0.42905	T	0.14	.	17.982	0.89144	0.0:1.0:0.0:0.0	.	437;570	B4E3H3;P16885	.;PLCG2_HUMAN	A	570	ENSP00000352336:P570A	ENSP00000352336:P570A	P	+	1	0	PLCG2	80499672	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	3.866000	0.56040	2.249000	0.74217	0.655000	0.94253	CCC		0.592	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			5	6	0	0	0	0	5	6				
CAMTA2	23125	broad.mit.edu	37	17	4883214	4883214	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:4883214G>T	ENST00000348066.3	-	9	1526	c.1403C>A	c.(1402-1404)tCa>tAa	p.S468*	CAMTA2_ENST00000571831.1_5'Flank|CAMTA2_ENST00000361571.5_Nonsense_Mutation_p.S467*|CAMTA2_ENST00000358183.4_Nonsense_Mutation_p.S468*|CAMTA2_ENST00000414043.3_Nonsense_Mutation_p.S491*|CAMTA2_ENST00000572543.1_Nonsense_Mutation_p.S473*|CAMTA2_ENST00000381311.5_Nonsense_Mutation_p.S470*	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	468					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						gggtgggggtgagggaggggg	0.612																																						uc002gah.1		NA																	0				ovary(1)	1						c.(1402-1404)TCA>TAA		calmodulin binding transcription activator 2							43.0	49.0	47.0					17																	4883214		2202	4296	6498	SO:0001587	stop_gained	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4883214G>T	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.1403C>A	17.37:g.4883214G>T	ENSP00000321813:p.Ser468*					CAMTA2_uc010cku.1_Nonsense_Mutation_p.S491*|CAMTA2_uc002gag.1_Nonsense_Mutation_p.S467*|CAMTA2_uc002gai.1_Nonsense_Mutation_p.S470*|CAMTA2_uc010ckv.1_Nonsense_Mutation_p.S115*|CAMTA2_uc010vsu.1_Nonsense_Mutation_p.S281*	p.S468*	NM_015099	NP_055914	O94983	CMTA2_HUMAN			9	1511	-			468					B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Nonsense_Mutation	SNP	ENST00000348066.3	37	c.1403C>A	CCDS11063.1	.	.	.	.	.	.	.	.	.	.	G	36	5.715074	0.96830	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	.	.	.	4.63	4.63	0.57726	.	0.000000	0.29551	N	0.011824	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4182	15.3859	0.74699	0.0:0.0:1.0:0.0	.	.	.	.	X	491;470;467;468;468	.	ENSP00000321813:S468X	S	-	2	0	CAMTA2	4823938	0.048000	0.20356	1.000000	0.80357	0.922000	0.55478	1.158000	0.31737	2.584000	0.87258	0.561000	0.74099	TCA		0.612	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		24	75	1	0	4.27e-12	5.73e-12	24	75				
TMEM256-PLSCR3	100529211	broad.mit.edu	37	17	7297016	7297016	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:7297016G>A	ENST00000576362.1	-	2	304	c.147C>T	c.(145-147)ttC>ttT	p.F49F	TMEM256-PLSCR3_ENST00000535512.1_Silent_p.F49F|TMEM256-PLSCR3_ENST00000576201.1_Silent_p.F49F|TMEM256-PLSCR3_ENST00000574401.1_Silent_p.F49F|TMEM256-PLSCR3_ENST00000324822.11_Silent_p.F49F|C17orf61-PLSCR3_ENST00000573331.1_3'UTR					TMEM256-PLSCR3 readthrough (NMD candidate)																		GGAAGAGGGCGAAGCCGGGAG	0.711																																						uc002ggm.1		NA																	0					0						c.(145-147)TTC>TTT		phospholipid scramblase 3							5.0	6.0	6.0					17																	7297016		1778	3879	5657	SO:0001819	synonymous_variant	57048				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding	g.chr17:7297016G>A			17p13.1	2013-09-25			ENSG00000187838	ENSG00000187838			49186	other	readthrough							Standard	NR_037719		Approved				OTTHUMG00000178150	ENST00000576362.1:c.147C>T	17.37:g.7297016G>A						PLSCR3_uc002ggl.2_Silent_p.F49F|PLSCR3_uc002ggq.1_5'UTR|PLSCR3_uc002ggn.1_Silent_p.F49F|PLSCR3_uc002ggo.1_Silent_p.F49F|PLSCR3_uc002ggp.1_5'UTR|PLSCR3_uc002ggr.1_Silent_p.F49F|PLSCR3_uc010cmg.1_Silent_p.F49F	p.F49F	NM_020360	NP_065093	Q9NRY6	PLS3_HUMAN			3	356	-		Prostate(122;0.173)	49	F->A: Reduces interaction with PDCD6. Abolishes interaction with PDCD6; when associated with A-52.|F->W: No effect on the interaction with PDCD6.|F->Y,L: Reduces interaction with PDCD6.		Cytoplasmic (By similarity).			Silent	SNP	ENST00000576362.1	37	c.147C>T																																																																																					0.711	TMEM256-PLSCR3-008	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000440808.1			5	8	0	0	0	0	5	8				
TP53	7157	broad.mit.edu	37	17	7577018	7577018	+	Splice_Site	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:7577018C>A	ENST00000269305.4	-	8	1109		c.e8+1		TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Splice_Site	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						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.?(28)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(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)	TGCTTGCTTACCTCGCTTAGT	0.562		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		38	Unknown(28)|Whole gene deletion(8)|Deletion - Frameshift(2)	p.?(21)|p.0?(7)|p.A307fs*34(1)|p.L308fs*31(1)	lung(7)|breast(7)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|large_intestine(2)|stomach(2)|haematopoietic_and_lymphoid_tissue(2)|ovary(2)|biliary_tract(1)|endometrium(1)|urinary_tract(1)|skin(1)|oesophagus(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CD920913	TP53	D		c.e8+1	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							127.0	112.0	117.0					17																	7577018		2203	4300	6503	SO:0001630	splice_region_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.chr17:7577018C>A	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.919+1G>T	17.37:g.7577018C>A		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_Intron|TP53_uc002gih.2_Splice_Site_p.A307_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Splice_Site_p.A175_splice|TP53_uc010cng.1_Splice_Site_p.A175_splice|TP53_uc002gii.1_Splice_Site_p.A175_splice|TP53_uc010cnh.1_Splice_Site_p.A307_splice|TP53_uc010cni.1_Splice_Site_p.A307_splice|TP53_uc002gij.2_Splice_Site_p.A307_splice	p.A307_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1113	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						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	Splice_Site	SNP	ENST00000269305.4	37	c.919_splice	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	9.475	1.096662	0.20552	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.81	3.84	0.44239	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.038	0.36300	0.0:0.9:0.0:0.1	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7517743	1.000000	0.71417	0.939000	0.37840	0.223000	0.24884	4.456000	0.60081	1.259000	0.44117	0.561000	0.74099	.		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	69	19	1	0	3.41e-29	5.04e-29	69	19				
MYH13	8735	broad.mit.edu	37	17	10248871	10248871	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:10248871G>A	ENST00000418404.3	-	13	1489	c.1326C>T	c.(1324-1326)gtC>gtT	p.V442V	MYH13_ENST00000252172.4_Silent_p.V442V			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	442	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGATGCGGGTGACCATCCACA	0.527																																						uc002gmk.1		NA																	0				ovary(4)|skin(2)	6						c.(1324-1326)GTC>GTT		myosin, heavy polypeptide 13, skeletal muscle							173.0	163.0	166.0					17																	10248871		2203	4297	6500	SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10248871G>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.1326C>T	17.37:g.10248871G>A						MYH13_uc010vvf.1_Silent_p.V117V	p.V442V	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			14	1416	-			442			Myosin head-like.		O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.1326C>T	CCDS45613.1																																																																																				0.527	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		46	78	0	0	0	0	46	78				
DNAH9	1770	broad.mit.edu	37	17	11543609	11543609	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:11543609C>T	ENST00000262442.4	+	10	1877	c.1809C>T	c.(1807-1809)aaC>aaT	p.N603N	DNAH9_ENST00000454412.2_Silent_p.N603N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	603	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGCACAAGAACATGCCCACCG	0.602																																						uc002gne.2		NA																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(1807-1809)AAC>AAT		dynein, axonemal, heavy chain 9 isoform 2							130.0	124.0	126.0					17																	11543609		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11543609C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1809C>T	17.37:g.11543609C>T							p.N603N	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	10	1877	+		Breast(5;0.0122)|all_epithelial(5;0.131)	603			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.1809C>T	CCDS11160.1																																																																																				0.602	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		136	47	0	0	0	0	136	47				
TEKT3	64518	broad.mit.edu	37	17	15215750	15215750	+	Silent	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:15215750G>C	ENST00000395930.1	-	7	1113	c.927C>G	c.(925-927)ctC>ctG	p.L309L	TEKT3_ENST00000338696.2_Silent_p.L309L|RNU6-799P_ENST00000363567.1_RNA	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	309					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TCTGGGAGCGGAGAATATTGT	0.463																																						uc002gon.2		NA																	0				ovary(2)	2						c.(925-927)CTC>CTG		tektin 3							73.0	72.0	72.0					17																	15215750		2203	4300	6503	SO:0001819	synonymous_variant	64518				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:15215750G>C	AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.927C>G	17.37:g.15215750G>C							p.L309L	NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)	7	1114	-			309					B2RAS7|D3DTT0|Q8N5R5|Q96M48	Silent	SNP	ENST00000395930.1	37	c.927C>G	CCDS11169.1																																																																																				0.463	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	NM_031898		6	62	0	0	0	0	6	62				
LRRC48	83450	broad.mit.edu	37	17	17910396	17910396	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:17910396A>G	ENST00000399187.1	+	12	1479	c.1261A>G	c.(1261-1263)Atc>Gtc	p.I421V	LRRC48_ENST00000399182.1_Missense_Mutation_p.I421V|LRRC48_ENST00000411504.2_Missense_Mutation_p.I421V|LRRC48_ENST00000313838.8_Missense_Mutation_p.I421V|LRRC48_ENST00000584166.1_Missense_Mutation_p.I421V	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	421						cytoplasm (GO:0005737)				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					GGAGATCTCTATCAGCACCCT	0.647																																						uc010vxd.1		NA																	0				pancreas(1)	1						c.(1261-1263)ATC>GTC		leucine rich repeat containing 48 isoform a							32.0	36.0	35.0					17																	17910396		2003	4164	6167	SO:0001583	missense	83450					cytoplasm		g.chr17:17910396A>G	AK093317	CCDS45622.1, CCDS45623.1	17p11.2	2014-07-18			ENSG00000171962	ENSG00000171962			25384	protein-coding gene	gene with protein product						11997338, 23354437	Standard	NM_001130090		Approved	DKFZP586M1120	uc021trk.1	Q9H069	OTTHUMG00000059355	ENST00000399187.1:c.1261A>G	17.37:g.17910396A>G	ENSP00000382140:p.Ile421Val					LRRC48_uc002gsa.2_Missense_Mutation_p.I421V|LRRC48_uc010vxc.1_Missense_Mutation_p.I421V|LRRC48_uc002gsb.2_Missense_Mutation_p.I421V	p.I421V	NM_001130090	NP_001123562	Q9H069	LRC48_HUMAN			13	1640	+	all_neural(463;0.228)		421					A8KAE6|Q86SF9|Q86W73|Q8IWG0	Missense_Mutation	SNP	ENST00000399187.1	37	c.1261A>G	CCDS45622.1	.	.	.	.	.	.	.	.	.	.	A	13.64	2.296359	0.40594	.	.	ENSG00000171962	ENST00000313838;ENST00000448396;ENST00000411504;ENST00000399184;ENST00000399187;ENST00000399182;ENST00000399185	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.34	5.34	0.76211	.	0.301982	0.35040	N	0.003499	T	0.36608	0.0973	L	0.33093	0.98	0.80722	D	1	B;B	0.25105	0.072;0.118	B;B	0.28465	0.056;0.09	T	0.15263	-1.0443	10	0.10111	T	0.7	-27.7778	14.2863	0.66247	1.0:0.0:0.0:0.0	.	421;421	Q9H069;Q9H069-2	LRC48_HUMAN;.	V	421	ENSP00000326870:I421V;ENSP00000394020:I421V;ENSP00000382140:I421V;ENSP00000382136:I421V	ENSP00000326870:I421V	I	+	1	0	LRRC48	17851121	0.986000	0.35501	1.000000	0.80357	0.911000	0.54048	2.285000	0.43487	2.022000	0.59522	0.454000	0.30748	ATC		0.647	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131945.3	NM_031294		10	14	0	0	0	0	10	14				
SPAG5	10615	broad.mit.edu	37	17	26906469	26906469	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:26906469C>A	ENST00000321765.5	-	18	3251	c.2919G>T	c.(2917-2919)atG>atT	p.M973I	ALDOC_ENST00000395321.2_5'Flank|ALDOC_ENST00000395319.3_5'Flank|ALDOC_ENST00000226253.4_5'Flank	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	973					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TCATAATACTCATTTCTGCCA	0.488																																						uc002hbq.2		NA																	0				central_nervous_system(1)	1						c.(2917-2919)ATG>ATT		sperm associated antigen 5							126.0	127.0	127.0					17																	26906469		2203	4300	6503	SO:0001583	missense	10615				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26906469C>A	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.2919G>T	17.37:g.26906469C>A	ENSP00000323300:p.Met973Ile					ALDOC_uc002hbp.2_5'Flank|ALDOC_uc010cro.2_5'Flank	p.M973I	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN			18	3011	-	Lung NSC(42;0.00431)		973					O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	37	c.2919G>T	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	c	8.136	0.784100	0.16189	.	.	ENSG00000076382	ENST00000321765	T	0.31510	1.49	6.04	2.94	0.34122	.	0.277119	0.32343	N	0.006236	T	0.22859	0.0552	L	0.32530	0.975	0.28001	N	0.935294	P	0.42941	0.794	B	0.43052	0.406	T	0.06391	-1.0829	10	0.37606	T	0.19	-1.6698	6.4725	0.22015	0.0:0.692:0.1484:0.1595	.	973	Q96R06	SPAG5_HUMAN	I	973	ENSP00000323300:M973I	ENSP00000323300:M973I	M	-	3	0	SPAG5	23930596	0.955000	0.32602	0.449000	0.26957	0.014000	0.08584	1.861000	0.39438	0.433000	0.26313	0.645000	0.84053	ATG		0.488	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		59	69	1	0	5.86e-21	8.42e-21	59	69				
SOCS7	30837	broad.mit.edu	37	17	36520668	36520668	+	Missense_Mutation	SNP	C	C	G	rs77546775		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:36520668C>G	ENST00000577233.1	+	3	887	c.887C>G	c.(886-888)tCt>tGt	p.S296C	SOCS7_ENST00000331159.5_Missense_Mutation_p.S296C	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	296	Mediates interaction with SORBS3.				fat cell differentiation (GO:0045444)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of signal transduction (GO:0009968)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					GTGGACATTTCTCAGCGGGGC	0.542																																						uc002hqa.2		NA																	0				skin(1)	1						c.(886-888)TCT>TGT		suppressor of cytokine signaling 7							152.0	129.0	137.0					17																	36520668		2203	4300	6503	SO:0001583	missense	30837				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	protein binding|SH3 domain binding	g.chr17:36520668C>G	AB005216	CCDS32637.1	17q12	2014-08-12			ENSG00000274211	ENSG00000274211		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	29846	protein-coding gene	gene with protein product	"""Nck, Ash and phospholipase C binding protein"", ""NCK-associated protein 4"""	608788				9344857, 12076535	Standard	XM_005257264		Approved	NAP4, NCKAP4	uc002hqa.3	O14512	OTTHUMG00000188546	ENST00000577233.1:c.887C>G	17.37:g.36520668C>G	ENSP00000464034:p.Ser296Cys					SOCS7_uc010cvl.2_Missense_Mutation_p.S296C|SOCS7_uc002hqb.2_RNA	p.S296C	NM_014598	NP_055413	O14512	SOCS7_HUMAN			3	1010	+	Breast(7;3.47e-17)		296			Mediates interaction with SORBS3.		A2VCU2|Q0IJ63	Missense_Mutation	SNP	ENST00000577233.1	37	c.887C>G	CCDS32637.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.233378	0.39498	.	.	ENSG00000174111	ENST00000331159	T	0.68331	-0.32	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000001	T	0.81074	0.4747	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.80819	-0.1212	10	0.87932	D	0	-13.0935	20.2159	0.98296	0.0:1.0:0.0:0.0	.	46;296	B5MDS8;O14512	.;SOCS7_HUMAN	C	296	ENSP00000330659:S296C	ENSP00000330659:S296C	S	+	2	0	SOCS7	33774194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.404000	0.79996	2.882000	0.98803	0.655000	0.94253	TCT		0.542	SOCS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440486.4	XM_371052		12	63	0	0	0	0	12	63				
CDK12	51755	broad.mit.edu	37	17	37687138	37687138	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:37687138T>C	ENST00000447079.4	+	14	4075	c.4042T>C	c.(4042-4044)Ttc>Ctc	p.F1348L	CDK12_ENST00000430627.2_Missense_Mutation_p.F1339L	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1348					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TGAAACAGGGTTCAGTGCCAT	0.542			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												uc010cvv.2		NA		Rec	yes		17	17q12	51755		cyclin-dependent kinase 12			E					0				ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						c.(4042-4044)TTC>CTC		Cdc2-related kinase, arginine/serine-rich							79.0	76.0	77.0					17																	37687138		2203	4300	6503	SO:0001583	missense	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37687138T>C	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.4042T>C	17.37:g.37687138T>C	ENSP00000398880:p.Phe1348Leu	TCGA Ovarian(9;0.13)				CDK12_uc002hrw.3_Missense_Mutation_p.F1339L	p.F1348L	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN			14	4628	+			1348					A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.4042T>C	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	T	13.06	2.125762	0.37533	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.68624	-0.25;-0.34	5.45	5.45	0.79879	.	0.000000	0.51477	D	0.000083	T	0.44030	0.1274	N	0.08118	0	0.28829	N	0.89727	B;B	0.27732	0.118;0.187	B;B	0.25140	0.026;0.058	T	0.41448	-0.9508	10	0.42905	T	0.14	-2.2806	9.1321	0.36852	0.0:0.0816:0.0:0.9184	.	1348;1339	Q9NYV4;Q9NYV4-2	CDK12_HUMAN;.	L	1339;1348	ENSP00000407720:F1339L;ENSP00000398880:F1348L	ENSP00000407720:F1339L	F	+	1	0	CDK12	34940664	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.475000	0.45162	2.288000	0.76882	0.533000	0.62120	TTC		0.542	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		10	222	0	0	0	0	10	222				
KRTAP1-3	81850	broad.mit.edu	37	17	39190615	39190615	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:39190615G>A	ENST00000344363.5	-	1	492	c.459C>T	c.(457-459)tgC>tgT	p.C153C		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	163						keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)	p.C153C(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CTGGGCGGCAGCAGGACTGTC	0.577																																						uc002hvv.2		NA																	1	Substitution - coding silent(1)		endometrium(1)		0						c.(457-459)TGC>TGT		keratin associated protein 1-3							36.0	43.0	40.0					17																	39190615		2045	4180	6225	SO:0001819	synonymous_variant	81850					extracellular region|keratin filament	structural constituent of epidermis	g.chr17:39190615G>A	AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"""Keratin associated proteins"""	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.459C>T	17.37:g.39190615G>A							p.C153C	NM_030966	NP_112228	Q8IUG1	KRA13_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	493	-		Breast(137;0.000496)	163					Q07628|Q8IUG0|Q9BYS2	Silent	SNP	ENST00000344363.5	37	c.459C>T	CCDS42323.1																																																																																				0.577	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257687.1			11	32	0	0	0	0	11	32				
EZH1	2145	broad.mit.edu	37	17	40858050	40858050	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:40858050C>A	ENST00000428826.2	-	16	1935	c.1814G>T	c.(1813-1815)tGc>tTc	p.C605F	EZH1_ENST00000590078.1_Missense_Mutation_p.C535F|EZH1_ENST00000585893.1_Missense_Mutation_p.C565F|EZH1_ENST00000590783.1_5'UTR|EZH1_ENST00000592743.1_Missense_Mutation_p.C605F|EZH1_ENST00000435174.1_Missense_Mutation_p.C466F|EZH1_ENST00000415827.2_Missense_Mutation_p.C596F			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	605	CXC. {ECO:0000255|PROSITE- ProRule:PRU00970}.|Cys-rich.				anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CTGGATGCTGCAGTTTTTACA	0.537																																						uc002iaz.2		NA																	0				ovary(3)	3						c.(1813-1815)TGC>TTC		enhancer of zeste homolog 1							111.0	84.0	93.0					17																	40858050		2203	4300	6503	SO:0001583	missense	2145				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding	g.chr17:40858050C>A		CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.1814G>T	17.37:g.40858050C>A	ENSP00000404658:p.Cys605Phe					EZH1_uc002iba.2_Missense_Mutation_p.C596F|EZH1_uc010wgt.1_Missense_Mutation_p.C535F|EZH1_uc010wgu.1_Missense_Mutation_p.C611F|EZH1_uc010wgv.1_Missense_Mutation_p.C565F|EZH1_uc010wgw.1_Missense_Mutation_p.C466F|EZH1_uc010cyp.2_Missense_Mutation_p.C506F|EZH1_uc010cyq.2_Missense_Mutation_p.C522F|EZH1_uc010cyo.1_Missense_Mutation_p.C268F	p.C605F	NM_001991	NP_001982	Q92800	EZH1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0784)	16	1959	-		Breast(137;0.00104)	605			Cys-rich.		A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	ENST00000428826.2	37	c.1814G>T	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	C	31	5.101952	0.94245	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	T;T;T	0.80738	-1.3;-1.41;-1.3	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.83839	0.5341	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.978;0.978;0.978;0.963	D;P;D;D;P	0.72982	0.979;0.888;0.923;0.923;0.84	T	0.82168	-0.0591	10	0.33141	T	0.24	.	19.2056	0.93729	0.0:1.0:0.0:0.0	.	466;565;611;535;605	Q92800-5;Q92800-3;Q92800-2;Q92800-4;Q92800	.;.;.;.;EZH1_HUMAN	F	608;605;565;466	ENSP00000404658:C605F;ENSP00000407869:C565F;ENSP00000404071:C466F	ENSP00000264646:C608F	C	-	2	0	EZH1	38111576	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.647000	0.83462	2.761000	0.94854	0.655000	0.94253	TGC		0.537	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991		6	12	1	0	0.00116845	0.00125245	6	12				
EPN3	55040	broad.mit.edu	37	17	48618421	48618421	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:48618421C>G	ENST00000268933.3	+	7	1826	c.1247C>G	c.(1246-1248)cCt>cGt	p.P416R	RP11-94C24.8_ENST00000513017.1_RNA|EPN3_ENST00000537145.1_Missense_Mutation_p.P444R|EPN3_ENST00000541226.1_3'UTR	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	416						clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			TCCGACACACCTGGTAAGAAG	0.627																																						uc002ira.3		NA																	0				ovary(1)	1						c.(1246-1248)CCT>CGT		epsin 3							30.0	33.0	32.0					17																	48618421		2169	4278	6447	SO:0001583	missense	55040					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding	g.chr17:48618421C>G	AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.1247C>G	17.37:g.48618421C>G	ENSP00000268933:p.Pro416Arg					SPATA20_uc002irc.2_5'Flank|EPN3_uc010wms.1_Missense_Mutation_p.P444R|EPN3_uc010wmt.1_RNA|EPN3_uc010wmu.1_Missense_Mutation_p.P389R	p.P416R	NM_017957	NP_060427	Q9H201	EPN3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.88e-09)		7	1682	+	Breast(11;1.23e-18)		416					A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Missense_Mutation	SNP	ENST00000268933.3	37	c.1247C>G	CCDS11570.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005182	0.35415	.	.	ENSG00000049283	ENST00000268933;ENST00000442715;ENST00000537145	T;T	0.74737	-0.87;-0.87	5.17	4.19	0.49359	.	0.675264	0.14223	N	0.333300	T	0.69566	0.3125	L	0.53249	1.67	0.80722	D	1	P;P;B	0.37276	0.454;0.589;0.021	B;B;B	0.41619	0.198;0.361;0.017	T	0.61212	-0.7108	10	0.21540	T	0.41	-0.4837	7.9913	0.30242	0.1604:0.7563:0.0:0.0832	.	444;444;416	B4DK18;F6QWW5;Q9H201	.;.;EPN3_HUMAN	R	416;444;444	ENSP00000268933:P416R;ENSP00000439512:P444R	ENSP00000268933:P416R	P	+	2	0	EPN3	45973420	0.005000	0.15991	0.994000	0.49952	0.601000	0.36947	0.671000	0.25172	1.150000	0.42419	0.561000	0.74099	CCT		0.627	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	NM_017957		4	33	0	0	0	0	4	33				
ABCA6	23460	broad.mit.edu	37	17	67124870	67124870	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:67124870G>T	ENST00000284425.2	-	8	1183	c.1009C>A	c.(1009-1011)Ctc>Atc	p.L337I		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	337					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CCCCAAAAGAGGGTAAGGAGA	0.423																																						uc002jhw.1		NA																	0				upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7						c.(1009-1011)CTC>ATC		ATP-binding cassette, sub-family A, member 6							117.0	113.0	114.0					17																	67124870		2203	4300	6503	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67124870G>T	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.1009C>A	17.37:g.67124870G>T	ENSP00000284425:p.Leu337Ile						p.L337I	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN			8	1184	-	Breast(10;5.65e-12)		337			Helical; (Potential).		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.1009C>A	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127864	0.37533	.	.	ENSG00000154262	ENST00000284425	D	0.88975	-2.45	5.61	-6.54	0.01860	.	0.459979	0.15489	N	0.259668	T	0.76557	0.4004	L	0.41236	1.265	0.29489	N	0.855755	B	0.19935	0.04	B	0.26864	0.074	T	0.61569	-0.7036	10	0.39692	T	0.17	.	0.5143	0.00601	0.3739:0.2317:0.1749:0.2195	.	337	Q8N139	ABCA6_HUMAN	I	337	ENSP00000284425:L337I	ENSP00000284425:L337I	L	-	1	0	ABCA6	64636465	0.000000	0.05858	0.003000	0.11579	0.906000	0.53458	-0.503000	0.06383	-0.687000	0.05162	0.655000	0.94253	CTC		0.423	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		11	63	1	0	2.81e-09	3.58e-09	11	63				
C17orf77	146723	broad.mit.edu	37	17	72588683	72588683	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:72588683C>T	ENST00000392620.1	+	3	860	c.498C>T	c.(496-498)tgC>tgT	p.C166C	C17orf77_ENST00000328023.2_Silent_p.C166C|CD300LD_ENST00000375352.1_5'Flank	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	166						extracellular region (GO:0005576)				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						TGAGGAGCTGCGGGATCTACT	0.587																																						uc002jla.1		NA																	0					0						c.(496-498)TGC>TGT		hypothetical protein LOC146723							94.0	76.0	82.0					17																	72588683		2203	4300	6503	SO:0001819	synonymous_variant	146723					extracellular region		g.chr17:72588683C>T		CCDS32721.1	17q25.1	2006-01-16			ENSG00000182352	ENSG00000182352			26480	protein-coding gene	gene with protein product							Standard	NM_152460		Approved	FLJ31882	uc002jla.1	Q96MU5	OTTHUMG00000067611	ENST00000392620.1:c.498C>T	17.37:g.72588683C>T						CD300LD_uc002jkz.2_5'Flank	p.C166C	NM_152460	NP_689673	Q96MU5	CQ077_HUMAN			3	860	+			166						Silent	SNP	ENST00000392620.1	37	c.498C>T	CCDS32721.1																																																																																				0.587	C17orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145090.2	NM_152460		8	29	0	0	0	0	8	29				
SLC26A11	284129	broad.mit.edu	37	17	78219976	78219976	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr17:78219976G>T	ENST00000361193.3	+	12	1401	c.1121G>T	c.(1120-1122)gGg>gTg	p.G374V	SLC26A11_ENST00000411502.3_Missense_Mutation_p.G374V|SLC26A11_ENST00000572725.1_Missense_Mutation_p.G374V|SLC26A11_ENST00000546047.2_Missense_Mutation_p.G374V	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11											central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCTCAGTCGGGGGTGTGCACC	0.667																																						uc002jyb.1		NA																	0					0						c.(1120-1122)GGG>GTG		solute carrier family 26, member 11							54.0	64.0	60.0					17																	78219976		2201	4299	6500	SO:0001583	missense	284129					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity	g.chr17:78219976G>T		CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045		"""Solute carriers"""	14471	protein-coding gene	gene with protein product		610117	"""solute carrier family 26, member 11"""				Standard	NM_001166347		Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.1121G>T	17.37:g.78219976G>T	ENSP00000355384:p.Gly374Val					SLC26A11_uc002jyc.1_Missense_Mutation_p.G374V|SLC26A11_uc002jyd.1_Missense_Mutation_p.G374V|SLC26A11_uc010dhv.1_Missense_Mutation_p.G374V	p.G374V	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		12	1390	+	all_neural(118;0.0538)		374			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000361193.3	37	c.1121G>T	CCDS11771.2	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622970	0.46840	.	.	ENSG00000181045	ENST00000411502;ENST00000546047;ENST00000361193	D;D;D	0.97906	-4.6;-4.6;-4.6	4.12	4.12	0.48240	Sulphate transporter (1);	0.000000	0.85682	D	0.000000	D	0.99223	0.9730	H	0.98802	4.335	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98333	1.0534	10	0.87932	D	0	-30.0741	12.6392	0.56700	0.0:0.1656:0.8344:0.0	.	374	Q86WA9	S2611_HUMAN	V	374	ENSP00000403998:G374V;ENSP00000440724:G374V;ENSP00000355384:G374V	ENSP00000355384:G374V	G	+	2	0	SLC26A11	75834571	1.000000	0.71417	0.871000	0.34182	0.139000	0.21198	4.900000	0.63252	2.270000	0.75569	0.491000	0.48974	GGG		0.667	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257281.1			22	102	1	0	3.67e-16	5.17e-16	22	102				
MYOM1	8736	broad.mit.edu	37	18	3215034	3215034	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr18:3215034C>T	ENST00000356443.4	-	2	521	c.188G>A	c.(187-189)cGg>cAg	p.R63Q	RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000400569.3_Missense_Mutation_p.R63Q|MYOM1_ENST00000261606.7_Missense_Mutation_p.R63Q	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	63					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GGCGGACGCCCGACGGAAGGC	0.687																																						uc002klp.2		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(187-189)CGG>CAG		myomesin 1 isoform a							28.0	33.0	31.0					18																	3215034		2029	4181	6210	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3215034C>T	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.188G>A	18.37:g.3215034C>T	ENSP00000348821:p.Arg63Gln					MYOM1_uc002klq.2_Missense_Mutation_p.R63Q	p.R63Q	NM_003803	NP_003794	P52179	MYOM1_HUMAN			2	522	-			63					Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.188G>A	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	T	1.575	-0.533125	0.04082	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.40225	1.17;1.18;1.04	4.95	-2.25	0.06888	.	1.110990	0.06703	N	0.771782	T	0.14874	0.0359	N	0.02539	-0.55	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.0	T	0.18967	-1.0320	10	0.18276	T	0.48	.	3.9864	0.09517	0.25:0.3096:0.0:0.4404	.	63;63	P52179-2;P52179	.;MYOM1_HUMAN	Q	63	ENSP00000348821:R63Q;ENSP00000383413:R63Q;ENSP00000261606:R63Q	ENSP00000261606:R63Q	R	-	2	0	MYOM1	3205034	0.178000	0.23122	0.005000	0.12908	0.004000	0.04260	0.106000	0.15354	-0.406000	0.07588	-0.254000	0.11334	CGG		0.687	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		9	38	0	0	0	0	9	38				
ZBTB14	7541	broad.mit.edu	37	18	5291107	5291107	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr18:5291107T>A	ENST00000357006.4	-	4	1438	c.1100A>T	c.(1099-1101)gAc>gTc	p.D367V	ZBTB14_ENST00000400143.3_Missense_Mutation_p.D367V	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1	O43829	ZBT14_HUMAN	zinc finger and BTB domain containing 14	367					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)										GAAGGCTTTGTCACACATGTG	0.468																																						uc002kmq.2		NA																	0				ovary(1)	1						c.(1099-1101)GAC>GTC		zinc finger protein 161 homolog							201.0	171.0	181.0					18																	5291107		2203	4300	6503	SO:0001583	missense	7541				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:5291107T>A	D89859	CCDS11837.1	18p11.31	2013-09-19	2013-01-08	2013-01-08	ENSG00000198081	ENSG00000198081		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12860	protein-coding gene	gene with protein product		602126	"""zinc finger protein 161 homolog (mouse)"", ""zinc finger protein 161"", ""ZFP161 zinc finger protein"""	ZFP161		9244432	Standard	NM_001243702		Approved	ZNF478	uc010dkp.3	O43829	OTTHUMG00000131563	ENST00000357006.4:c.1100A>T	18.37:g.5291107T>A	ENSP00000349503:p.Asp367Val					ZFP161_uc002kmr.2_Missense_Mutation_p.D367V|ZFP161_uc010dkp.2_Missense_Mutation_p.D367V	p.D367V	NM_003409	NP_003400	O43829	ZF161_HUMAN			4	1261	-			367			C2H2-type 4.		O00403|Q2TB80	Missense_Mutation	SNP	ENST00000357006.4	37	c.1100A>T	CCDS11837.1	.	.	.	.	.	.	.	.	.	.	T	15.53	2.861038	0.51482	.	.	ENSG00000198081	ENST00000357006;ENST00000400143	T;T	0.08008	3.14;3.14	5.8	5.8	0.92144	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.110627	0.64402	U	0.000013	T	0.15609	0.0376	M	0.82323	2.585	0.80722	D	1	B	0.31949	0.348	B	0.25884	0.064	T	0.01048	-1.1469	10	0.87932	D	0	-21.5714	16.143	0.81539	0.0:0.0:0.0:1.0	.	367	O43829	ZF161_HUMAN	V	367	ENSP00000349503:D367V;ENSP00000383009:D367V	ENSP00000349503:D367V	D	-	2	0	ZFP161	5281107	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.083000	0.71326	2.206000	0.71126	0.528000	0.53228	GAC		0.468	ZBTB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254425.1	NM_003409		27	100	0	0	0	0	27	100				
ZBTB14	7541	broad.mit.edu	37	18	5291112	5291112	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr18:5291112C>T	ENST00000357006.4	-	4	1433	c.1095G>A	c.(1093-1095)atG>atA	p.M365I	ZBTB14_ENST00000400143.3_Missense_Mutation_p.M365I	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1	O43829	ZBT14_HUMAN	zinc finger and BTB domain containing 14	365					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)										CTTTGTCACACATGTGGCACG	0.463																																						uc002kmq.2		NA																	0				ovary(1)	1						c.(1093-1095)ATG>ATA		zinc finger protein 161 homolog							199.0	172.0	181.0					18																	5291112		2203	4300	6503	SO:0001583	missense	7541				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:5291112C>T	D89859	CCDS11837.1	18p11.31	2013-09-19	2013-01-08	2013-01-08	ENSG00000198081	ENSG00000198081		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12860	protein-coding gene	gene with protein product		602126	"""zinc finger protein 161 homolog (mouse)"", ""zinc finger protein 161"", ""ZFP161 zinc finger protein"""	ZFP161		9244432	Standard	NM_001243702		Approved	ZNF478	uc010dkp.3	O43829	OTTHUMG00000131563	ENST00000357006.4:c.1095G>A	18.37:g.5291112C>T	ENSP00000349503:p.Met365Ile					ZFP161_uc002kmr.2_Missense_Mutation_p.M365I|ZFP161_uc010dkp.2_Missense_Mutation_p.M365I	p.M365I	NM_003409	NP_003400	O43829	ZF161_HUMAN			4	1256	-			365			C2H2-type 4.		O00403|Q2TB80	Missense_Mutation	SNP	ENST00000357006.4	37	c.1095G>A	CCDS11837.1	.	.	.	.	.	.	.	.	.	.	C	1.018	-0.685757	0.03328	.	.	ENSG00000198081	ENST00000357006;ENST00000400143	T;T	0.04317	3.65;3.65	5.8	5.8	0.92144	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.094279	0.64402	U	0.000001	T	0.02571	0.0078	N	0.01454	-0.855	0.52501	D	0.999956	B	0.02656	0.0	B	0.01281	0.0	T	0.55509	-0.8130	10	0.62326	D	0.03	-19.0628	14.845	0.70254	0.1438:0.8562:0.0:0.0	.	365	O43829	ZF161_HUMAN	I	365	ENSP00000349503:M365I;ENSP00000383009:M365I	ENSP00000349503:M365I	M	-	3	0	ZFP161	5281112	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.423000	0.44705	2.733000	0.93635	0.650000	0.86243	ATG		0.463	ZBTB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254425.1	NM_003409		27	99	0	0	0	0	27	99				
NAPG	8774	broad.mit.edu	37	18	10540342	10540342	+	Missense_Mutation	SNP	G	G	C	rs200300448	byFrequency	TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr18:10540342G>C	ENST00000322897.6	+	8	521	c.452G>C	c.(451-453)cGa>cCa	p.R151P	NAPG_ENST00000542979.1_Missense_Mutation_p.R69P	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma	151					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)				large_intestine(2)|lung(2)	4						GAACGCTTACGACAGGCAGTT	0.338																																						uc002kon.2		NA																	0					0						c.(451-453)CGA>CCA		N-ethylmaleimide-sensitive factor attachment							86.0	82.0	84.0					18																	10540342		1832	4087	5919	SO:0001583	missense	8774				cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding	g.chr18:10540342G>C	U78107	CCDS45827.1	18p11.21	2013-02-28			ENSG00000134265	ENSG00000134265			7642	protein-coding gene	gene with protein product	"""gamma SNAP"""	603216				9269766	Standard	NM_003826		Approved		uc002kon.3	Q99747	OTTHUMG00000179119	ENST00000322897.6:c.452G>C	18.37:g.10540342G>C	ENSP00000324628:p.Arg151Pro					NAPG_uc010wzr.1_Missense_Mutation_p.R69P|NAPG_uc002koo.2_Missense_Mutation_p.R64P|NAPG_uc002kop.2_Missense_Mutation_p.R64P	p.R151P	NM_003826	NP_003817	Q99747	SNAG_HUMAN			8	679	+			151					B4DFC9|Q9BUV1	Missense_Mutation	SNP	ENST00000322897.6	37	c.452G>C	CCDS45827.1	.	.	.	.	.	.	.	.	.	.	G	31	5.077161	0.94000	.	.	ENSG00000134265	ENST00000322897;ENST00000542979	T;T	0.73258	-0.73;-0.73	5.96	5.96	0.96718	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.86748	0.6007	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.87220	0.2253	10	0.66056	D	0.02	-0.0628	20.4043	0.99006	0.0:0.0:1.0:0.0	.	151	Q99747	SNAG_HUMAN	P	151;69	ENSP00000324628:R151P;ENSP00000442849:R69P	ENSP00000324628:R151P	R	+	2	0	NAPG	10530342	1.000000	0.71417	0.984000	0.44739	0.968000	0.65278	7.491000	0.81471	2.823000	0.97156	0.650000	0.86243	CGA		0.338	NAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444873.1	NM_003826		26	38	0	0	0	0	26	38				
ANKRD30B	374860	broad.mit.edu	37	18	14752641	14752641	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr18:14752641A>C	ENST00000358984.4	+	2	478	c.298A>C	c.(298-300)Aat>Cat	p.N100H	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.N100H|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	100										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GTGCCAGCTTAATGTCCTTGA	0.433																																						uc010dlo.2		NA																	0				ovary(1)|skin(1)	2						c.(298-300)AAT>CAT		ankyrin repeat domain 30B							93.0	82.0	85.0					18																	14752641		692	1591	2283	SO:0001583	missense	374860							g.chr18:14752641A>C	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.298A>C	18.37:g.14752641A>C	ENSP00000351875:p.Asn100His					ANKRD30B_uc010xak.1_RNA	p.N100H	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN			2	478	+			100			ANK 1.		B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.298A>C	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	11.91	1.779659	0.31502	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.60672	0.17;0.17	1.59	-2.61	0.06171	.	.	.	.	.	T	0.51822	0.1697	M	0.76938	2.355	0.30261	N	0.793162	P	0.52316	0.952	B	0.41135	0.348	T	0.55211	-0.8176	9	0.72032	D	0.01	.	5.6554	0.17640	0.6544:0.0:0.3456:0.0	.	100	F8WAG3	.	H	100	ENSP00000351875:N100H;ENSP00000399031:N100H	ENSP00000351875:N100H	N	+	1	0	ANKRD30B	14742641	0.299000	0.24426	0.000000	0.03702	0.001000	0.01503	1.177000	0.31969	-0.739000	0.04809	-0.816000	0.03127	AAT		0.433	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		13	13	0	0	0	0	13	13				
PSMA8	143471	broad.mit.edu	37	18	23731942	23731942	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr18:23731942A>G	ENST00000308268.6	+	3	457	c.368A>G	c.(367-369)aAg>aGg	p.K123R	PSMA8_ENST00000415576.2_Missense_Mutation_p.K117R|PSMA8_ENST00000343848.6_Missense_Mutation_p.K79R	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	123					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome core complex, alpha-subunit complex (GO:0019773)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			GCAACTTTAAAGCAGGTAAGC	0.388																																						uc002kvq.2		NA																	0				skin(1)	1						c.(367-369)AAG>AGG		proteasome alpha 8 subunit isoform 1							84.0	74.0	77.0					18																	23731942		2203	4300	6503	SO:0001583	missense	143471				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity	g.chr18:23731942A>G	BC047355	CCDS32808.1, CCDS45842.1, CCDS45843.1	18q11.2	2006-12-18				ENSG00000154611		"""Proteasome (prosome, macropain) subunits"""	22985	protein-coding gene	gene with protein product							Standard	XM_005258199		Approved	MGC26605, PSMA7L	uc002kvq.3	Q8TAA3		ENST00000308268.6:c.368A>G	18.37:g.23731942A>G	ENSP00000311121:p.Lys123Arg					PSMA8_uc002kvo.2_Missense_Mutation_p.K79R|PSMA8_uc002kvp.2_Missense_Mutation_p.K117R|PSMA8_uc002kvr.2_Missense_Mutation_p.K91R	p.K123R	NM_144662	NP_653263	Q8TAA3	PSA7L_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)		3	482	+	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		123					B0YJ75|Q8IVP4|Q8TA98|Q8TAA2	Missense_Mutation	SNP	ENST00000308268.6	37	c.368A>G	CCDS32808.1	.	.	.	.	.	.	.	.	.	.	A	29.0	4.966038	0.92855	.	.	ENSG00000154611	ENST00000308268;ENST00000415576;ENST00000343848;ENST00000538664;ENST00000536423	T;T;T	0.23552	1.9;1.9;1.9	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.55210	0.1906	H	0.97874	4.095	0.58432	D	0.999999	P;P;P;P	0.49559	0.863;0.692;0.643;0.925	P;P;P;P	0.49226	0.592;0.603;0.468;0.578	T	0.72218	-0.4357	10	0.59425	D	0.04	-12.7821	13.3216	0.60436	1.0:0.0:0.0:0.0	.	91;123;117;79	F5GY34;Q8TAA3;Q8TAA3-5;Q8TAA3-2	.;PSA7L_HUMAN;.;.	R	123;117;79;91;79	ENSP00000311121:K123R;ENSP00000409284:K117R;ENSP00000345584:K79R	ENSP00000311121:K123R	K	+	2	0	PSMA8	21985940	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.848000	0.86902	2.248000	0.74166	0.533000	0.62120	AAG		0.388	PSMA8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446255.1	NM_144662		11	76	0	0	0	0	11	76				
DSG3	1830	broad.mit.edu	37	18	29054239	29054239	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr18:29054239A>T	ENST00000257189.4	+	15	2340	c.2257A>T	c.(2257-2259)Act>Tct	p.T753S		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	753					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CGGAGCAGCCACTGGAGTTGG	0.537																																						uc002kws.2		NA																	0				skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9						c.(2257-2259)ACT>TCT		desmoglein 3 preproprotein							90.0	82.0	85.0					18																	29054239		2203	4300	6503	SO:0001583	missense	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29054239A>T	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.2257A>T	18.37:g.29054239A>T	ENSP00000257189:p.Thr753Ser					DSG3_uc002kwt.2_Missense_Mutation_p.T35S	p.T753S	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		15	2366	+			753			Cytoplasmic (Potential).		A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	c.2257A>T	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	A	9.336	1.061663	0.19987	.	.	ENSG00000134757	ENST00000257189	T	0.59906	0.23	4.85	-4.89	0.03103	.	1.556280	0.04693	N	0.414568	T	0.35068	0.0919	N	0.22421	0.69	0.09310	N	1	B	0.27765	0.188	B	0.23018	0.043	T	0.15464	-1.0436	10	0.11794	T	0.64	.	6.7237	0.23345	0.3319:0.0:0.4879:0.1802	.	753	P32926	DSG3_HUMAN	S	753	ENSP00000257189:T753S	ENSP00000257189:T753S	T	+	1	0	DSG3	27308237	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.233000	0.02934	-0.971000	0.03564	0.528000	0.53228	ACT		0.537	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		47	47	0	0	0	0	47	47				
KIAA1328	57536	broad.mit.edu	37	18	34415329	34415329	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr18:34415329T>C	ENST00000280020.5	+	3	249	c.227T>C	c.(226-228)gTa>gCa	p.V76A	KIAA1328_ENST00000543923.1_5'UTR|KIAA1328_ENST00000435985.2_5'UTR|KIAA1328_ENST00000591619.1_Missense_Mutation_p.V72A|KIAA1328_ENST00000592521.1_Missense_Mutation_p.V76A	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328	76				V -> A (in Ref. 3; CAD89947). {ECO:0000305}.						central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		GGAGATTCAGTAGATGAACAG	0.393																																						uc002kzz.2		NA																	0				central_nervous_system(1)	1						c.(226-228)GTA>GCA		hypothetical protein LOC57536							227.0	224.0	225.0					18																	34415329		1844	4091	5935	SO:0001583	missense	57536							g.chr18:34415329T>C	AB037749	CCDS45855.1	18q12.2	2011-12-12			ENSG00000150477	ENSG00000150477			29248	protein-coding gene	gene with protein product						10718198	Standard	XM_005258317		Approved		uc002kzz.3	Q86T90		ENST00000280020.5:c.227T>C	18.37:g.34415329T>C	ENSP00000280020:p.Val76Ala						p.V76A	NM_020776	NP_065827	Q86T90	K1328_HUMAN		COAD - Colon adenocarcinoma(74;0.195)	3	249	+			76	V -> A (in Ref. 3; CAD89947).				Q05DL0|Q49AG6|Q9P2L8	Missense_Mutation	SNP	ENST00000280020.5	37	c.227T>C	CCDS45855.1	.	.	.	.	.	.	.	.	.	.	T	7.827	0.719042	0.15372	.	.	ENSG00000150477	ENST00000280020;ENST00000383055	T	0.20069	2.1	5.41	3.05	0.35203	.	0.495245	0.19174	N	0.120859	T	0.15132	0.0365	L	0.47716	1.5	0.21355	N	0.999714	B	0.09022	0.002	B	0.12156	0.007	T	0.22871	-1.0204	10	0.21540	T	0.41	.	4.3503	0.11151	0.0:0.3891:0.0:0.6109	.	76	Q86T90	K1328_HUMAN	A	76	ENSP00000280020:V76A	ENSP00000280020:V76A	V	+	2	0	KIAA1328	32669327	0.002000	0.14202	0.984000	0.44739	0.446000	0.32137	1.018000	0.30002	0.880000	0.35969	0.455000	0.32223	GTA		0.393	KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440455.1	NM_020776		9	195	0	0	0	0	9	195				
KIAA1328	57536	broad.mit.edu	37	18	34647234	34647234	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr18:34647234C>T	ENST00000280020.5	+	7	980	c.958C>T	c.(958-960)Cct>Tct	p.P320S	KIAA1328_ENST00000543923.1_Missense_Mutation_p.P212S|KIAA1328_ENST00000586135.1_Missense_Mutation_p.P36S|KIAA1328_ENST00000586501.1_Missense_Mutation_p.P36S|KIAA1328_ENST00000435985.2_Missense_Mutation_p.P36S|KIAA1328_ENST00000591619.1_Missense_Mutation_p.P316S	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328	320										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		TGACAGCCATCCTACAAACAT	0.473																																						uc002kzz.2		NA																	0				central_nervous_system(1)	1						c.(958-960)CCT>TCT		hypothetical protein LOC57536							118.0	112.0	114.0					18																	34647234		2100	4214	6314	SO:0001583	missense	57536							g.chr18:34647234C>T	AB037749	CCDS45855.1	18q12.2	2011-12-12			ENSG00000150477	ENSG00000150477			29248	protein-coding gene	gene with protein product						10718198	Standard	XM_005258317		Approved		uc002kzz.3	Q86T90		ENST00000280020.5:c.958C>T	18.37:g.34647234C>T	ENSP00000280020:p.Pro320Ser					KIAA1328_uc002lab.2_Missense_Mutation_p.P36S|KIAA1328_uc002lac.1_Missense_Mutation_p.P143S|KIAA1328_uc010dnc.1_RNA|KIAA1328_uc002lad.2_Missense_Mutation_p.P36S	p.P320S	NM_020776	NP_065827	Q86T90	K1328_HUMAN		COAD - Colon adenocarcinoma(74;0.195)	7	980	+			320					Q05DL0|Q49AG6|Q9P2L8	Missense_Mutation	SNP	ENST00000280020.5	37	c.958C>T	CCDS45855.1	.	.	.	.	.	.	.	.	.	.	C	0.033	-1.321353	0.01320	.	.	ENSG00000150477	ENST00000543923;ENST00000280020;ENST00000383055;ENST00000435985	T;T;T	0.42131	0.98;0.98;0.98	6.17	2.33	0.28932	.	0.769941	0.12580	N	0.456526	T	0.35480	0.0933	L	0.59436	1.845	0.09310	N	1	B;B;B;B	0.10296	0.001;0.0;0.001;0.003	B;B;B;B	0.12156	0.004;0.002;0.005;0.007	T	0.32188	-0.9916	10	0.21540	T	0.41	.	7.0866	0.25261	0.0:0.5316:0.1128:0.3556	.	36;320;36;320	Q86T90-4;A8K8C3;Q86T90-3;Q86T90	.;.;.;K1328_HUMAN	S	212;320;320;36	ENSP00000441359:P212S;ENSP00000280020:P320S;ENSP00000390515:P36S	ENSP00000280020:P320S	P	+	1	0	KIAA1328	32901232	0.001000	0.12720	0.028000	0.17463	0.001000	0.01503	0.781000	0.26774	-0.042000	0.13535	-0.797000	0.03246	CCT		0.473	KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440455.1	NM_020776		12	65	0	0	0	0	12	65				
SYT4	6860	broad.mit.edu	37	18	40853629	40853629	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr18:40853629C>T	ENST00000255224.3	-	2	1133	c.765G>A	c.(763-765)ggG>ggA	p.G255G	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.G237G	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	255	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TTAGAACTTCCCCAATGATAT	0.353																																					NSCLC(85;81 1419 2855 22820 35912)	uc002law.2		NA																	0				skin(5)	5						c.(763-765)GGG>GGA		synaptotagmin IV							54.0	56.0	55.0					18																	40853629		2201	4300	6501	SO:0001819	synonymous_variant	6860					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr18:40853629C>T	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.765G>A	18.37:g.40853629C>T						SYT4_uc010dng.2_Intron|SYT4_uc010xcm.1_Silent_p.G237G|SYT4_uc010dnh.2_Intron	p.G255G	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN			2	1134	-			255			Phospholipid binding (Probable).|C2 1.|Cytoplasmic (Potential).		B4DEU3|Q9P2K4	Silent	SNP	ENST00000255224.3	37	c.765G>A	CCDS11922.1																																																																																				0.353	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783		23	12	0	0	0	0	23	12				
RFX2	5990	broad.mit.edu	37	19	6008155	6008155	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:6008155C>T	ENST00000303657.5	-	10	1245	c.1096G>A	c.(1096-1098)Gtc>Atc	p.V366I	CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000592546.1_Missense_Mutation_p.V341I|RFX2_ENST00000359161.3_Missense_Mutation_p.V366I	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	366					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						AGGGCCTTGACGTCGTGCAGT	0.682																																					Colon(38;171 817 19800 47433 48051)	uc002meb.2		NA																	0				breast(4)|ovary(1)|skin(1)	6						c.(1096-1098)GTC>ATC		regulatory factor X2 isoform a							26.0	19.0	22.0					19																	6008155		2143	4209	6352	SO:0001583	missense	5990				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:6008155C>T		CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 2"", ""DNA binding protein RFX2"", ""HLA class II regulatory factor RFX2"""	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.1096G>A	19.37:g.6008155C>T	ENSP00000306335:p.Val366Ile					RFX2_uc002mec.2_Missense_Mutation_p.V341I|RFX2_uc002med.1_Missense_Mutation_p.R35H	p.V366I	NM_000635	NP_000626	P48378	RFX2_HUMAN			10	1365	-			366					A8K581|B3KNC4|Q6IQ44|Q8SNA2	Missense_Mutation	SNP	ENST00000303657.5	37	c.1096G>A	CCDS12157.1	.	.	.	.	.	.	.	.	.	.	C	4.960	0.178308	0.09443	.	.	ENSG00000087903	ENST00000303657;ENST00000359161;ENST00000537791	T	0.64803	-0.12	5.07	0.0207	0.14125	.	0.260360	0.38720	N	0.001583	T	0.35128	0.0921	N	0.12569	0.235	0.48135	D	0.999597	B;B	0.19706	0.038;0.01	B;B	0.19666	0.026;0.008	T	0.06807	-1.0806	10	0.11182	T	0.66	-39.4145	8.2282	0.31582	0.0:0.4851:0.0:0.5149	.	341;366	P48378-2;P48378	.;RFX2_HUMAN	I	366;341;153	ENSP00000306335:V366I	ENSP00000306335:V366I	V	-	1	0	RFX2	5959155	0.329000	0.24696	0.946000	0.38457	0.738000	0.42128	0.252000	0.18278	0.171000	0.19730	0.561000	0.74099	GTC		0.682	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452687.1	NM_000635		4	3	0	0	0	0	4	3				
MUC16	94025	broad.mit.edu	37	19	9062481	9062481	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:9062481G>T	ENST00000397910.4	-	3	25168	c.24965C>A	c.(24964-24966)aCt>aAt	p.T8322N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8324	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				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						CAAATTTGAAGTGGAACTGGT	0.502																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(24964-24966)ACT>AAT		mucin 16							144.0	137.0	139.0					19																	9062481		2007	4174	6181	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9062481G>T	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.24965C>A	19.37:g.9062481G>T	ENSP00000381008:p.Thr8322Asn						p.T8322N	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	25169	-			8324			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.24965C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.166	0.029266	0.08054	.	.	ENSG00000181143	ENST00000397910	T	0.23348	1.91	2.58	-1.04	0.10068	.	.	.	.	.	T	0.14570	0.0352	L	0.29908	0.895	.	.	.	P	0.39809	0.689	B	0.37508	0.252	T	0.18745	-1.0327	8	0.87932	D	0	.	2.2541	0.04051	0.3147:0.0:0.4421:0.2432	.	8322	B5ME49	.	N	8322	ENSP00000381008:T8322N	ENSP00000381008:T8322N	T	-	2	0	MUC16	8923481	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.184000	0.09698	-0.133000	0.11537	0.385000	0.25706	ACT		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		17	69	1	0	1.15e-07	1.41e-07	17	69				
COL5A3	50509	broad.mit.edu	37	19	10107183	10107183	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:10107183C>A	ENST00000264828.3	-	13	1433	c.1348G>T	c.(1348-1350)Gca>Tca	p.A450S	CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	450	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GAGCCGCCTGCAAACTGGAAC	0.612																																						uc002mmq.1		NA																	0				ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10						c.(1348-1350)GCA>TCA		collagen, type V, alpha 3 preproprotein							40.0	44.0	43.0					19																	10107183		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10107183C>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.1348G>T	19.37:g.10107183C>A	ENSP00000264828:p.Ala450Ser						p.A450S	NM_015719	NP_056534	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		13	1434	-			450			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.1348G>T	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	0.678	-0.799498	0.02841	.	.	ENSG00000080573	ENST00000264828	D	0.88896	-2.44	5.12	3.01	0.34805	.	0.384376	0.22445	U	0.059978	T	0.74359	0.3706	N	0.17474	0.49	0.26383	N	0.976697	B	0.30741	0.293	B	0.25140	0.058	T	0.60209	-0.7308	10	0.09084	T	0.74	.	7.737	0.28821	0.0:0.8085:0.0:0.1915	.	450	P25940	CO5A3_HUMAN	S	450	ENSP00000264828:A450S	ENSP00000264828:A450S	A	-	1	0	COL5A3	9968183	0.996000	0.38824	0.363000	0.25875	0.039000	0.13416	3.464000	0.53057	0.583000	0.29574	-0.136000	0.14681	GCA		0.612	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		8	33	1	0	5.18e-06	6.02e-06	8	33				
OR7A17	26333	broad.mit.edu	37	19	14991735	14991735	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:14991735C>A	ENST00000327462.2	-	1	529	c.433G>T	c.(433-435)Gtt>Ttt	p.V145F		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					GATGCCAGAACCAGGAGTCCA	0.502																																						uc010xob.1		NA																	0					0						c.(433-435)GTT>TTT		olfactory receptor, family 7, subfamily A,							111.0	106.0	108.0					19																	14991735		2203	4300	6503	SO:0001583	missense	26333				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14991735C>A	X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"""GPCR / Class A : Olfactory receptors"""	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.433G>T	19.37:g.14991735C>A	ENSP00000328144:p.Val145Phe						p.V145F	NM_030901	NP_112163	O14581	OR7AH_HUMAN			1	433	-	Ovarian(108;0.203)		145			Helical; Name=4; (Potential).		Q6IFQ6|Q96R98	Missense_Mutation	SNP	ENST00000327462.2	37	c.433G>T	CCDS12319.1	.	.	.	.	.	.	.	.	.	.	c	13.86	2.363725	0.41902	.	.	ENSG00000185385	ENST00000327462	T	0.39997	1.05	3.3	-3.49	0.04724	GPCR, rhodopsin-like superfamily (1);	0.231508	0.21463	U	0.074124	T	0.65502	0.2697	H	0.94698	3.57	0.09310	N	1	D	0.71674	0.998	D	0.80764	0.994	T	0.57860	-0.7738	10	0.72032	D	0.01	.	7.9112	0.29791	0.2731:0.2336:0.4932:0.0	.	145	O14581	OR7AH_HUMAN	F	145	ENSP00000328144:V145F	ENSP00000328144:V145F	V	-	1	0	OR7A17	14852735	0.000000	0.05858	0.007000	0.13788	0.017000	0.09413	-0.193000	0.09573	-0.487000	0.06735	-0.883000	0.02948	GTT		0.502	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466523.1	NM_030901		22	42	1	0	2.89e-11	3.83e-11	22	42				
ZNF536	9745	broad.mit.edu	37	19	30935052	30935052	+	Missense_Mutation	SNP	G	G	A	rs543213590		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:30935052G>A	ENST00000355537.3	+	2	730	c.583G>A	c.(583-585)Gag>Aag	p.E195K		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	195					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGTGCGCGAGGAGAACCGCCT	0.692																																						uc002nsu.1		NA																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(583-585)GAG>AAG		zinc finger protein 536							16.0	12.0	14.0					19																	30935052		2192	4286	6478	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935052G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.583G>A	19.37:g.30935052G>A	ENSP00000347730:p.Glu195Lys					ZNF536_uc010edd.1_Missense_Mutation_p.E195K	p.E195K	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	721	+	Esophageal squamous(110;0.0834)		195					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.583G>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891788	0.52014	.	.	ENSG00000198597	ENST00000355537	T	0.08720	3.06	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.18383	0.0441	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.993	T	0.03795	-1.1003	10	0.06757	T	0.87	-36.7745	20.3632	0.98871	0.0:0.0:1.0:0.0	.	195;195	A7E228;O15090	.;ZN536_HUMAN	K	195	ENSP00000347730:E195K	ENSP00000347730:E195K	E	+	1	0	ZNF536	35626892	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.842000	0.86851	2.826000	0.97356	0.561000	0.74099	GAG		0.692	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		10	13	0	0	0	0	10	13				
MEGF8	1954	broad.mit.edu	37	19	42863326	42863326	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:42863326A>T	ENST00000251268.6	+	31	5420	c.5420A>T	c.(5419-5421)gAc>gTc	p.D1807V	MEGF8_ENST00000334370.4_Missense_Mutation_p.D1740V	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1807					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TCGGACCCTGACGAGTTCAGC	0.652																																						uc002otl.3		NA																	0				ovary(1)	1						c.(5218-5220)GAC>GTC		multiple EGF-like-domains 8							37.0	31.0	33.0					19																	42863326		2202	4300	6502	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42863326A>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.5420A>T	19.37:g.42863326A>T	ENSP00000251268:p.Asp1807Val					MEGF8_uc002otm.3_Missense_Mutation_p.D1348V	p.D1740V	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN			30	5854	+		Prostate(69;0.00682)	1807			Extracellular (Potential).|Kelch 11.		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.5219A>T		.	.	.	.	.	.	.	.	.	.	A	13.11	2.139323	0.37728	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.64438	-0.1;-0.1	4.69	3.66	0.41972	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.072162	0.53938	D	0.000057	T	0.54271	0.1848	L	0.46819	1.47	0.80722	D	1	B;B	0.33857	0.355;0.429	B;B	0.39617	0.305;0.122	T	0.39981	-0.9587	10	0.17369	T	0.5	-18.9763	9.4869	0.38935	0.9124:0.0:0.0876:0.0	.	1807;1740	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	V	1740;1807	ENSP00000334219:D1740V;ENSP00000251268:D1807V	ENSP00000251268:D1807V	D	+	2	0	MEGF8	47555166	1.000000	0.71417	0.367000	0.25926	0.777000	0.43975	5.235000	0.65348	0.629000	0.30376	0.374000	0.22700	GAC		0.652	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		5	6	0	0	0	0	5	6				
PSG2	5670	broad.mit.edu	37	19	43585341	43585341	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:43585341T>A	ENST00000406487.1	-	2	220	c.122A>T	c.(121-123)cAg>cTg	p.Q41L	PSG2_ENST00000491995.1_5'Flank	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	41	Ig-like V-type.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TTTTGGTGGCTGGGCTTCAAT	0.478																																						uc002ovi.2		NA																	0				ovary(1)|skin(1)	2						c.(121-123)CAG>CTG		SubName: Full=Putative uncharacterized protein PSG6;							170.0	166.0	168.0					19																	43585341		2203	4299	6502	SO:0001583	missense	5675				female pregnancy	extracellular region		g.chr19:43585341T>A		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.122A>T	19.37:g.43585341T>A	ENSP00000385706:p.Gln41Leu					PSG6_uc010xwk.1_Intron|PSG2_uc002ovr.2_Missense_Mutation_p.Q41L|PSG2_uc002ovq.3_Missense_Mutation_p.Q41L|PSG2_uc010eiq.1_Missense_Mutation_p.Q41L|PSG2_uc002ovs.3_Missense_Mutation_p.Q41L|PSG2_uc002ovt.3_Missense_Mutation_p.Q41L	p.Q41L			Q00889	PSG6_HUMAN			2	215	-		Prostate(69;0.00899)	41	K -> Q (in Ref. 3; CAA34957).		Ig-like V-type.		Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	ENST00000406487.1	37	c.122A>T	CCDS12616.1	.	.	.	.	.	.	.	.	.	.	N	3.011	-0.203844	0.06180	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	T	0.65364	-0.15	0.569	-1.14	0.09741	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45856	0.1363	L	0.39467	1.215	0.09310	N	1	B;B	0.15473	0.0;0.013	B;B	0.22880	0.004;0.042	T	0.29488	-1.0010	8	0.23302	T	0.38	.	.	.	.	.	41;41	B5MCM8;P11465	.;PSG2_HUMAN	L	41	ENSP00000385706:Q41L	ENSP00000332984:Q41L	Q	-	2	0	PSG2	48277181	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.107000	0.10873	-0.601000	0.05783	0.155000	0.16302	CAG		0.478	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		44	79	0	0	0	0	44	79				
ZNF112	7771	broad.mit.edu	37	19	44833219	44833219	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:44833219T>C	ENST00000337401.4	-	5	1197	c.1109A>G	c.(1108-1110)cAt>cGt	p.H370R	ZNF112_ENST00000536500.1_Missense_Mutation_p.H387R|ZNF112_ENST00000354340.4_Missense_Mutation_p.H364R	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	370					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										GTCTAAGCTATGACTGAAGGC	0.383																																						uc010ejj.2		NA																	0				ovary(3)|skin(2)	5						c.(1108-1110)CAT>CGT		zinc finger protein 228 isoform 1							99.0	87.0	91.0					19																	44833219		2203	4300	6503	SO:0001583	missense	7771				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44833219T>C	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.1109A>G	19.37:g.44833219T>C	ENSP00000337081:p.His370Arg					ZFP112_uc002ozc.3_Missense_Mutation_p.H364R|ZFP112_uc010xwy.1_Missense_Mutation_p.H387R|ZFP112_uc010xwz.1_Missense_Mutation_p.H369R	p.H370R	NM_001083335	NP_001076804	Q9UJU3	ZF112_HUMAN			5	1222	-			370					A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	c.1109A>G	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	T	1.302	-0.604546	0.03717	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.05513	3.43;3.44;3.44	4.85	-0.958	0.10347	.	0.494627	0.15048	N	0.283485	T	0.01558	0.0050	N	0.01096	-1.015	0.09310	N	1	B;B;B	0.11235	0.003;0.004;0.003	B;B;B	0.08055	0.001;0.003;0.001	T	0.46414	-0.9193	10	0.10636	T	0.68	-0.5781	4.884	0.13694	0.0:0.2211:0.281:0.4978	.	369;387;370	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	R	370;370;364;387;369	ENSP00000337081:H370R;ENSP00000346305:H364R;ENSP00000441990:H387R	ENSP00000253426:H369R	H	-	2	0	ZNF285	49525059	0.000000	0.05858	0.000000	0.03702	0.558000	0.35554	-0.572000	0.05881	-0.322000	0.08615	0.459000	0.35465	CAT		0.383	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		14	37	0	0	0	0	14	37				
CCDC9	26093	broad.mit.edu	37	19	47761913	47761913	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:47761913G>T	ENST00000221922.6	+	3	323	c.101G>T	c.(100-102)cGc>cTc	p.R34L		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	34							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		CTCATCCGGCGCTACCAGGTG	0.567																																						uc010xym.1		NA																	0					0						c.(100-102)CGC>CTC		coiled-coil domain containing 9							64.0	64.0	64.0					19																	47761913		2203	4300	6503	SO:0001583	missense	26093							g.chr19:47761913G>T	AL050284	CCDS12698.1	19q13.33	2008-02-05				ENSG00000105321			24560	protein-coding gene	gene with protein product						11230166	Standard	NM_015603		Approved	DKFZP586M1019	uc010xym.2	Q9Y3X0		ENST00000221922.6:c.101G>T	19.37:g.47761913G>T	ENSP00000221922:p.Arg34Leu						p.R34L	NM_015603	NP_056418	Q9Y3X0	CCDC9_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)	3	308	+		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)	34						Missense_Mutation	SNP	ENST00000221922.6	37	c.101G>T	CCDS12698.1	.	.	.	.	.	.	.	.	.	.	g	24.5	4.538679	0.85917	.	.	ENSG00000105321	ENST00000221922;ENST00000504556	T	0.65178	-0.14	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.78496	0.4292	M	0.74258	2.255	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.82016	-0.0666	10	0.87932	D	0	-13.9253	15.7277	0.77774	0.0:0.0:1.0:0.0	.	34	Q9Y3X0	CCDC9_HUMAN	L	34	ENSP00000221922:R34L	ENSP00000221922:R34L	R	+	2	0	CCDC9	52453753	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.354000	0.90080	2.254000	0.74563	0.462000	0.41574	CGC		0.567	CCDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466917.1	NM_015603		10	27	1	0	9.7e-10	1.25e-09	10	27				
PLA2G4C	8605	broad.mit.edu	37	19	48607867	48607867	+	Missense_Mutation	SNP	C	C	A	rs138956741		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:48607867C>A	ENST00000599921.1	-	4	592	c.235G>T	c.(235-237)Gca>Tca	p.A79S	PLA2G4C_ENST00000354276.3_Missense_Mutation_p.A79S|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.A89S|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.A79S			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	79	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)	p.A79T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		GAGACCCCTGCGAGGTACGTG	0.517																																						uc002phx.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)|skin(1)	2						c.(235-237)GCA>TCA		phospholipase A2, group IVC isoform 1 precursor							132.0	117.0	122.0					19																	48607867		2203	4300	6503	SO:0001583	missense	8605				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	g.chr19:48607867C>A	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.235G>T	19.37:g.48607867C>A	ENSP00000469473:p.Ala79Ser					PLA2G4C_uc002phw.2_Missense_Mutation_p.A14S|PLA2G4C_uc010elr.2_Missense_Mutation_p.A79S|PLA2G4C_uc010xzd.1_Missense_Mutation_p.A89S|PLA2G4C_uc002phy.3_Missense_Mutation_p.A79S	p.A79S	NM_003706	NP_003697	Q9UP65	PA24C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)	4	633	-		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)	79			PLA2c.		B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	ENST00000599921.1	37	c.235G>T	CCDS12710.1	.	.	.	.	.	.	.	.	.	.	C	1.011	-0.687789	0.03328	.	.	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.04603	3.59;3.59	3.37	-0.846	0.10734	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.274202	0.27664	N	0.018365	T	0.02230	0.0069	N	0.11131	0.1	0.22803	N	0.998715	P;P;P	0.49358	0.852;0.495;0.923	P;B;P	0.45610	0.485;0.388;0.487	T	0.41502	-0.9505	10	0.09084	T	0.74	-4.0953	3.5628	0.07889	0.4326:0.4326:0.0:0.1348	.	89;79;79	B4DI40;Q8WWC5;Q9UP65	.;.;PA24C_HUMAN	S	79	ENSP00000346228:A79S;ENSP00000400036:A79S	ENSP00000346228:A79S	A	-	1	0	PLA2G4C	53299679	0.268000	0.24133	0.403000	0.26384	0.180000	0.23129	0.895000	0.28363	0.049000	0.15920	0.404000	0.27445	GCA		0.517	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1			14	40	1	0	7.05e-17	9.97e-17	14	40				
AP2A1	160	broad.mit.edu	37	19	50306435	50306435	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:50306435G>T	ENST00000359032.5	+	18	2309	c.2309G>T	c.(2308-2310)cGa>cTa	p.R770L	AP2A1_ENST00000354293.5_Missense_Mutation_p.R748L	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	770					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		TCAGAGTTCCGACAGAACCTG	0.617																																						uc002ppn.2		NA																	0				ovary(2)	2						c.(2308-2310)CGA>CTA		adaptor-related protein complex 2, alpha 1							70.0	77.0	75.0					19																	50306435		1982	4159	6141	SO:0001583	missense	160				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity	g.chr19:50306435G>T	AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.2309G>T	19.37:g.50306435G>T	ENSP00000351926:p.Arg770Leu					AP2A1_uc010enj.1_RNA|AP2A1_uc002ppo.2_Missense_Mutation_p.R748L|AP2A1_uc002ppp.1_3'UTR|AP2A1_uc010enk.2_5'Flank	p.R770L	NM_014203	NP_055018	O95782	AP2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)	18	2520	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	770					Q96CI7|Q96PP6|Q96PP7|Q9H070	Missense_Mutation	SNP	ENST00000359032.5	37	c.2309G>T	CCDS46148.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745789	0.89663	.	.	ENSG00000196961	ENST00000354293;ENST00000359032	T;T	0.52526	0.66;0.66	4.91	4.91	0.64330	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);Clathrin adaptor, alpha-adaptin, appendage, Ig-like subdomain (1);	0.000000	0.85682	D	0.000000	T	0.73908	0.3647	M	0.89214	3.015	0.58432	D	0.999993	D;P	0.65815	0.995;0.456	D;B	0.77557	0.99;0.142	T	0.79600	-0.1736	10	0.66056	D	0.02	-2.8814	17.2224	0.86961	0.0:0.0:1.0:0.0	.	748;770	O95782-2;O95782	.;AP2A1_HUMAN	L	748;770	ENSP00000346246:R748L;ENSP00000351926:R770L	ENSP00000346246:R748L	R	+	2	0	AP2A1	54998247	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	8.009000	0.88606	2.453000	0.82957	0.561000	0.74099	CGA		0.617	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1			13	28	1	0	2.32e-09	2.97e-09	13	28				
ZNF528	84436	broad.mit.edu	37	19	52905281	52905281	+	Splice_Site	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:52905281G>A	ENST00000360465.3	+	4	441	c.15G>A	c.(13-15)caG>caA	p.Q5Q	ZNF528_ENST00000391788.2_5'UTR|ZNF528_ENST00000594530.1_Splice_Site_p.Q5Q|ZNF528_ENST00000598192.1_Splice_Site_p.Q5Q	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	5					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(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		CCCTTACTCAGGTAAGGTAAT	0.418																																						uc002pzh.2		NA																	0				ovary(1)|skin(1)	2						c.(13-15)CAG>CAA		zinc finger protein 528							271.0	248.0	256.0					19																	52905281		2203	4300	6503	SO:0001630	splice_region_variant	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52905281G>A	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.15+1G>A	19.37:g.52905281G>A						ZNF528_uc002pzi.2_5'UTR	p.Q5Q	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	4	441	+			5					B3KPN4|Q86T88|Q96JK0	Silent	SNP	ENST00000360465.3	37	c.15G>A	CCDS33091.1																																																																																				0.418	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423	Silent	5	26	0	0	0	0	5	26				
LILRA1	11024	broad.mit.edu	37	19	55107222	55107222	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:55107222G>A	ENST00000251372.3	+	6	962	c.780G>A	c.(778-780)gaG>gaA	p.E260E	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000453777.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	260	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TGTATAAGGAGGGAGAACGTG	0.617																																						uc002qgh.1		NA																	0				skin(2)|ovary(1)	3						c.(778-780)GAG>GAA		leukocyte immunoglobulin-like receptor,							132.0	126.0	128.0					19																	55107222		2203	4300	6503	SO:0001819	synonymous_variant	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55107222G>A	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.780G>A	19.37:g.55107222G>A						LILRA2_uc010yfg.1_Silent_p.E258E|LILRA1_uc010yfh.1_Silent_p.E260E	p.E260E	NM_006863	NP_006854	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	6	962	+			260			Extracellular (Potential).|Ig-like C2-type 3.		O75018|Q3MJA6	Silent	SNP	ENST00000251372.3	37	c.780G>A	CCDS12901.1																																																																																				0.617	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		25	66	0	0	0	0	25	66				
KIR3DL1	3811	broad.mit.edu	37	19	55285082	55285082	+	Intron	SNP	T	T	A	rs80323556	byFrequency	TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:55285082T>A	ENST00000538269.1	+	2	61				KIR2DL3_ENST00000434419.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.I123K|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL1_ENST00000336077.6_Missense_Mutation_p.I123K|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		ATCGTGATCATAGGTGAGAGT	0.512																																						uc002qhb.1		NA																	0					0						c.(367-369)ATA>AAA		killer cell immunoglobulin-like receptor, two							184.0	167.0	173.0					19																	55285082		2175	4210	6385	SO:0001627	intron_variant	3802				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55285082T>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-43907T>A	19.37:g.55285082T>A						KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Missense_Mutation_p.I123K	p.I123K	NM_014218	NP_055033	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	3	406	+			123			Extracellular (Potential).		O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37	c.368T>A		.	.	.	.	.	.	.	.	.	.	C	8.588	0.883972	0.17467	.	.	ENSG00000125498	ENST00000336077;ENST00000291633	T;T	0.00655	5.95;5.95	1.24	1.24	0.21308	.	.	.	.	.	T	0.00754	0.0025	L	0.29908	0.895	0.18873	N	0.999986	B;B	0.15930	0.015;0.011	B;B	0.22152	0.032;0.038	T	0.48547	-0.9026	9	0.87932	D	0	.	3.8015	0.08760	0.0:0.7436:0.0:0.2564	.	123;123	Q6IST4;Q6H2H3	.;.	K	123	ENSP00000336769:I123K;ENSP00000291633:I123K	ENSP00000291633:I123K	I	+	2	0	KIR2DL1	59976894	0.980000	0.34600	0.226000	0.23910	0.014000	0.08584	0.590000	0.23954	0.109000	0.17891	-0.528000	0.04320	ATA		0.512	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		48	119	0	0	0	0	48	119				
NLRP13	126204	broad.mit.edu	37	19	56423633	56423633	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:56423633T>C	ENST00000342929.3	-	5	1549	c.1550A>G	c.(1549-1551)tAc>tGc	p.Y517C	NLRP13_ENST00000588751.1_Missense_Mutation_p.Y517C	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	517	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATTGAACTCGTAGAGAGAATC	0.448																																						uc010ygg.1		NA																	0				skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(1549-1551)TAC>TGC		NACHT, leucine rich repeat and PYD containing							61.0	62.0	62.0					19																	56423633		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56423633T>C	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.1550A>G	19.37:g.56423633T>C	ENSP00000343891:p.Tyr517Cys						p.Y517C	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	1575	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	517			NACHT.		Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.1550A>G	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	T	10.41	1.341420	0.24339	.	.	ENSG00000173572	ENST00000342929	D	0.88046	-2.33	2.48	1.41	0.22369	.	.	.	.	.	T	0.78438	0.4283	N	0.22421	0.69	0.09310	N	1	D	0.56287	0.975	P	0.45343	0.477	T	0.68769	-0.5321	9	0.87932	D	0	.	4.8744	0.13650	0.7183:0.0:0.0:0.2817	.	517	Q86W25	NAL13_HUMAN	C	517	ENSP00000343891:Y517C	ENSP00000343891:Y517C	Y	-	2	0	NLRP13	61115445	0.011000	0.17503	0.000000	0.03702	0.002000	0.02628	2.277000	0.43417	0.173000	0.19788	-0.731000	0.03576	TAC		0.448	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		14	25	0	0	0	0	14	25				
NLRP8	126205	broad.mit.edu	37	19	56485041	56485041	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:56485041A>T	ENST00000291971.3	+	7	2629	c.2558A>T	c.(2557-2559)cAg>cTg	p.Q853L	NLRP8_ENST00000590542.1_Intron	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	853					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AACCTTACACAGCTTACTTGT	0.498																																						uc002qmh.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(2557-2559)CAG>CTG		NLR family, pyrin domain containing 8							200.0	200.0	200.0					19																	56485041		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56485041A>T	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2558A>T	19.37:g.56485041A>T	ENSP00000291971:p.Gln853Leu					NLRP8_uc010etg.2_Intron	p.Q853L	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	7	2629	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	853			LRR 3.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.2558A>T	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	A	3.147	-0.175152	0.06421	.	.	ENSG00000179709	ENST00000291971	T	0.53206	0.63	2.04	-1.82	0.07857	.	.	.	.	.	T	0.19005	0.0456	N	0.05230	-0.09	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13308	-1.0514	9	0.33141	T	0.24	.	0.0522	0.00012	0.321:0.2313:0.1772:0.2705	.	853	Q86W28	NALP8_HUMAN	L	853	ENSP00000291971:Q853L	ENSP00000291971:Q853L	Q	+	2	0	NLRP8	61176853	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-2.382000	0.01064	-0.617000	0.05664	0.421000	0.28195	CAG		0.498	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		45	112	0	0	0	0	45	112				
ZNF304	57343	broad.mit.edu	37	19	57868528	57868528	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:57868528A>T	ENST00000282286.5	+	3	1464	c.1291A>T	c.(1291-1293)Aac>Tac	p.N431Y	ZNF304_ENST00000598744.1_Missense_Mutation_p.N389Y|ZNF304_ENST00000443917.2_Missense_Mutation_p.N478Y|ZNF304_ENST00000391705.3_Missense_Mutation_p.N431Y			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	431					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(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CTTTAGCCATAACTCTAGCCT	0.453																																						uc010ygw.1		NA																	0				ovary(1)	1						c.(1291-1293)AAC>TAC		zinc finger protein 304							50.0	51.0	51.0					19																	57868528		2203	4300	6503	SO:0001583	missense	57343				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57868528A>T	AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"""Zinc fingers, C2H2-type"", ""-"""	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.1291A>T	19.37:g.57868528A>T	ENSP00000282286:p.Asn431Tyr					ZNF304_uc010etw.2_Missense_Mutation_p.N478Y|ZNF304_uc010etx.2_Missense_Mutation_p.N389Y	p.N431Y	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	3	1679	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	431			C2H2-type 9.			Missense_Mutation	SNP	ENST00000282286.5	37	c.1291A>T	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	A	14.55	2.568618	0.45798	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.07688	3.17;3.17;3.17	4.03	4.03	0.46877	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10078	0.0247	L	0.33245	0.995	0.09310	N	1	D;D	0.56035	0.974;0.974	P;P	0.52267	0.694;0.694	T	0.12091	-1.0561	9	0.11485	T	0.65	.	9.205	0.37285	0.8171:0.1829:0.0:0.0	.	431;478	Q9HCX3;E7EQD3	ZN304_HUMAN;.	Y	431;431;478	ENSP00000282286:N431Y;ENSP00000375586:N431Y;ENSP00000401642:N478Y	ENSP00000282286:N431Y	N	+	1	0	ZNF304	62560340	0.000000	0.05858	0.443000	0.26883	0.972000	0.66771	0.224000	0.17738	2.054000	0.61138	0.528000	0.53228	AAC		0.453	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1			11	26	0	0	0	0	11	26				
ZNF419	79744	broad.mit.edu	37	19	58001541	58001541	+	Silent	SNP	A	A	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:58001541A>C	ENST00000221735.7	+	2	246	c.60A>C	c.(58-60)acA>acC	p.T20T	ZNF419_ENST00000426954.2_Intron|ZNF419_ENST00000520540.1_Intron|ZNF419_ENST00000442920.2_Intron|ZNF419_ENST00000347466.6_Silent_p.T20T|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000518999.1_Silent_p.T20T|ZNF419_ENST00000415379.2_Intron|ZNF419_ENST00000424930.2_Silent_p.T20T|ZNF419_ENST00000354197.4_Intron			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	20					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(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		ACTTGCTTACAGACCATGAGG	0.498																																						uc002qov.2		NA																	0					0						c.(58-60)ACA>ACC		zinc finger protein 419 isoform 2							140.0	131.0	134.0					19																	58001541		2035	4190	6225	SO:0001819	synonymous_variant	79744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58001541A>C	AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"""Zinc fingers, C2H2-type"", ""-"""	20648	protein-coding gene	gene with protein product			"""zinc finger protein 419A"""	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.60A>C	19.37:g.58001541A>C						ZNF547_uc002qpm.3_Intron|ZNF419_uc010ety.1_Silent_p.T20T|ZNF419_uc010etz.1_Intron|ZNF419_uc010eua.1_Intron|ZNF419_uc002qow.2_Silent_p.T20T|ZNF419_uc010eub.1_Intron|ZNF419_uc010euc.1_Intron	p.T20T	NM_024691	NP_078967	Q96HQ0	ZN419_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)	2	300	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)	20					B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Silent	SNP	ENST00000221735.7	37	c.60A>C	CCDS54326.1																																																																																				0.498	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	NM_024691		10	21	0	0	0	0	10	21				
ZNF132	7691	broad.mit.edu	37	19	58945609	58945609	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:58945609C>G	ENST00000254166.3	-	3	1602	c.1202G>C	c.(1201-1203)aGa>aCa	p.R401T		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	401					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_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;0.0171)|Lung(386;0.182)		CTCATAAGGTCTTACCTGTGT	0.473																																						uc002qst.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1201-1203)AGA>ACA		zinc finger protein 132							105.0	98.0	101.0					19																	58945609		2203	4300	6503	SO:0001583	missense	7691					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58945609C>G	U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849		"""Zinc fingers, C2H2-type"", ""-"""	12916	protein-coding gene	gene with protein product		604074	"""zinc finger protein 132 (clone pHZ-12)"""			7557990	Standard	NM_003433		Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.1202G>C	19.37:g.58945609C>G	ENSP00000254166:p.Arg401Thr						p.R401T	NM_003433	NP_003424	P52740	ZN132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)	3	1603	-		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)	401					Q32MI9	Missense_Mutation	SNP	ENST00000254166.3	37	c.1202G>C	CCDS12980.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.608361	0.28623	.	.	ENSG00000131849	ENST00000254166;ENST00000391695	T	0.17854	2.25	3.78	1.13	0.20643	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20536	0.0494	L	0.45422	1.42	0.09310	N	1	P	0.49307	0.922	P	0.52386	0.697	T	0.11251	-1.0595	9	0.87932	D	0	.	4.481	0.11767	0.0:0.4545:0.0:0.5455	.	401	P52740	ZN132_HUMAN	T	401;228	ENSP00000254166:R401T	ENSP00000254166:R401T	R	-	2	0	ZNF132	63637421	0.000000	0.05858	0.102000	0.21198	0.897000	0.52465	-0.286000	0.08399	0.701000	0.31803	0.655000	0.94253	AGA		0.473	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467035.1	NM_003433		17	55	0	0	0	0	17	55				
ZNF132	7691	broad.mit.edu	37	19	58945629	58945629	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:58945629C>G	ENST00000254166.3	-	3	1582	c.1182G>C	c.(1180-1182)caG>caC	p.Q394H		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	394					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_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;0.0171)|Lung(386;0.182)		TGTGAACTTTCTGATGCCGAA	0.478																																						uc002qst.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1180-1182)CAG>CAC		zinc finger protein 132							92.0	86.0	88.0					19																	58945629		2203	4300	6503	SO:0001583	missense	7691					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58945629C>G	U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849		"""Zinc fingers, C2H2-type"", ""-"""	12916	protein-coding gene	gene with protein product		604074	"""zinc finger protein 132 (clone pHZ-12)"""			7557990	Standard	NM_003433		Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.1182G>C	19.37:g.58945629C>G	ENSP00000254166:p.Gln394His						p.Q394H	NM_003433	NP_003424	P52740	ZN132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)	3	1583	-		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)	394			C2H2-type 7.		Q32MI9	Missense_Mutation	SNP	ENST00000254166.3	37	c.1182G>C	CCDS12980.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.351671	0.41700	.	.	ENSG00000131849	ENST00000254166	T	0.18502	2.21	3.78	1.49	0.22878	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10121	0.0248	L	0.33293	1	0.09310	N	1	B	0.33135	0.399	B	0.22880	0.042	T	0.24657	-1.0154	9	0.54805	T	0.06	.	4.2783	0.10820	0.1813:0.6169:0.0:0.2018	.	394	P52740	ZN132_HUMAN	H	394	ENSP00000254166:Q394H	ENSP00000254166:Q394H	Q	-	3	2	ZNF132	63637441	0.000000	0.05858	0.076000	0.20297	0.975000	0.68041	0.130000	0.15850	0.173000	0.19788	0.655000	0.94253	CAG		0.478	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467035.1	NM_003433		17	55	0	0	0	0	17	55				
ZNF132	7691	broad.mit.edu	37	19	58945685	58945685	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:58945685C>G	ENST00000254166.3	-	3	1526	c.1126G>C	c.(1126-1128)Gag>Cag	p.E376Q		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	376					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_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;0.0171)|Lung(386;0.182)		TTCAGGCACTCAAAAGGCCTT	0.458																																						uc002qst.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1126-1128)GAG>CAG		zinc finger protein 132							77.0	69.0	72.0					19																	58945685		2203	4300	6503	SO:0001583	missense	7691					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58945685C>G	U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849		"""Zinc fingers, C2H2-type"", ""-"""	12916	protein-coding gene	gene with protein product		604074	"""zinc finger protein 132 (clone pHZ-12)"""			7557990	Standard	NM_003433		Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.1126G>C	19.37:g.58945685C>G	ENSP00000254166:p.Glu376Gln						p.E376Q	NM_003433	NP_003424	P52740	ZN132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)	3	1527	-		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)	376			C2H2-type 7.		Q32MI9	Missense_Mutation	SNP	ENST00000254166.3	37	c.1126G>C	CCDS12980.1	.	.	.	.	.	.	.	.	.	.	C	9.402	1.078168	0.20227	.	.	ENSG00000131849	ENST00000254166	T	0.20200	2.09	2.96	0.76	0.18442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12817	0.0311	N	0.17674	0.51	0.09310	N	1	P	0.37914	0.611	B	0.40864	0.342	T	0.19451	-1.0305	9	0.48119	T	0.1	.	2.745	0.05264	0.2061:0.4314:0.0:0.3625	.	376	P52740	ZN132_HUMAN	Q	376	ENSP00000254166:E376Q	ENSP00000254166:E376Q	E	-	1	0	ZNF132	63637497	0.000000	0.05858	0.935000	0.37517	0.999000	0.98932	-5.405000	0.00125	0.130000	0.18549	0.655000	0.94253	GAG		0.458	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467035.1	NM_003433		14	40	0	0	0	0	14	40				
ZNF132	7691	broad.mit.edu	37	19	58945763	58945763	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:58945763C>A	ENST00000254166.3	-	3	1448	c.1048G>T	c.(1048-1050)Gat>Tat	p.D350Y		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	350					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_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;0.0171)|Lung(386;0.182)		CCACATTCATCACACTCATAA	0.418																																						uc002qst.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1048-1050)GAT>TAT		zinc finger protein 132							71.0	64.0	66.0					19																	58945763		2203	4300	6503	SO:0001583	missense	7691					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58945763C>A	U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849		"""Zinc fingers, C2H2-type"", ""-"""	12916	protein-coding gene	gene with protein product		604074	"""zinc finger protein 132 (clone pHZ-12)"""			7557990	Standard	NM_003433		Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.1048G>T	19.37:g.58945763C>A	ENSP00000254166:p.Asp350Tyr						p.D350Y	NM_003433	NP_003424	P52740	ZN132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)	3	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)	350			C2H2-type 6.		Q32MI9	Missense_Mutation	SNP	ENST00000254166.3	37	c.1048G>T	CCDS12980.1	.	.	.	.	.	.	.	.	.	.	c	2.307	-0.358793	0.05138	.	.	ENSG00000131849	ENST00000254166	T	0.19806	2.12	3.27	-1.6	0.08426	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23054	0.0557	M	0.81112	2.525	0.09310	N	1	B	0.15473	0.013	B	0.25614	0.062	T	0.43196	-0.9406	9	0.72032	D	0.01	.	2.1749	0.03859	0.1446:0.3972:0.1475:0.3108	.	350	P52740	ZN132_HUMAN	Y	350	ENSP00000254166:D350Y	ENSP00000254166:D350Y	D	-	1	0	ZNF132	63637575	0.000000	0.05858	0.002000	0.10522	0.455000	0.32408	-4.023000	0.00311	-0.658000	0.05366	-1.149000	0.01842	GAT		0.418	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467035.1	NM_003433		12	50	1	0	3.07e-06	3.6e-06	12	50				
ZNF132	7691	broad.mit.edu	37	19	58946028	58946028	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:58946028C>G	ENST00000254166.3	-	3	1183	c.783G>C	c.(781-783)gaG>gaC	p.E261D		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	261					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_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;0.0171)|Lung(386;0.182)		TAAATGGTATCTCTTCAGAGT	0.443																																						uc002qst.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(781-783)GAG>GAC		zinc finger protein 132							89.0	93.0	92.0					19																	58946028		2203	4300	6503	SO:0001583	missense	7691					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58946028C>G	U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849		"""Zinc fingers, C2H2-type"", ""-"""	12916	protein-coding gene	gene with protein product		604074	"""zinc finger protein 132 (clone pHZ-12)"""			7557990	Standard	NM_003433		Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.783G>C	19.37:g.58946028C>G	ENSP00000254166:p.Glu261Asp						p.E261D	NM_003433	NP_003424	P52740	ZN132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)	3	1184	-		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)	261					Q32MI9	Missense_Mutation	SNP	ENST00000254166.3	37	c.783G>C	CCDS12980.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.023875	0.35701	.	.	ENSG00000131849	ENST00000254166;ENST00000391695	T	0.19806	2.12	3.16	0.927	0.19437	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15132	0.0365	L	0.41415	1.275	0.23923	N	0.996454	P	0.37525	0.598	B	0.34301	0.179	T	0.14671	-1.0464	9	0.62326	D	0.03	.	6.4132	0.21702	0.0:0.7491:0.0:0.2509	.	261	P52740	ZN132_HUMAN	D	261;172	ENSP00000254166:E261D	ENSP00000254166:E261D	E	-	3	2	ZNF132	63637840	0.000000	0.05858	0.004000	0.12327	0.369000	0.29798	-0.188000	0.09642	0.170000	0.19704	0.467000	0.42956	GAG		0.443	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467035.1	NM_003433		16	83	0	0	0	0	16	83				
PXDN	7837	broad.mit.edu	37	2	1642655	1642655	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:1642655A>G	ENST00000252804.4	-	21	4219	c.4169T>C	c.(4168-4170)cTg>cCg	p.L1390P		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1390					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CTGCATTTCCAGAACAAACTC	0.562																																						uc002qxa.2		NA																	0				pancreas(6)|ovary(2)	8						c.(4168-4170)CTG>CCG		peroxidasin precursor							140.0	143.0	142.0					2																	1642655		2081	4223	6304	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1642655A>G	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.4169T>C	2.37:g.1642655A>G	ENSP00000252804:p.Leu1390Pro						p.L1390P	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	21	4233	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	1390					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.4169T>C	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	A	6.837	0.523717	0.13066	.	.	ENSG00000130508	ENST00000252804	T	0.61510	0.1	5.43	2.95	0.34219	.	0.544123	0.19178	N	0.120774	T	0.47783	0.1464	L	0.50333	1.59	0.34511	D	0.707155	B	0.26318	0.146	B	0.30029	0.11	T	0.50083	-0.8869	10	0.30854	T	0.27	-12.9474	6.304	0.21129	0.577:0.1449:0.0:0.2781	.	1390	Q92626	PXDN_HUMAN	P	1390	ENSP00000252804:L1390P	ENSP00000252804:L1390P	L	-	2	0	PXDN	1621662	0.172000	0.23043	0.844000	0.33320	0.445000	0.32107	1.927000	0.40094	0.399000	0.25367	-0.490000	0.04691	CTG		0.562	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		11	42	0	0	0	0	11	42				
PXDN	7837	broad.mit.edu	37	2	1670117	1670117	+	Missense_Mutation	SNP	G	G	T	rs201256803		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:1670117G>T	ENST00000252804.4	-	10	1210	c.1160C>A	c.(1159-1161)cCg>cAg	p.P387Q	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	387	Ig-like C2-type 2.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.P387Q(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GTTCACCCGCGGGTCAACTGG	0.632																																						uc002qxa.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(6)|ovary(2)	8						c.(1159-1161)CCG>CAG		peroxidasin precursor							48.0	50.0	50.0					2																	1670117		2060	4184	6244	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1670117G>T	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1160C>A	2.37:g.1670117G>T	ENSP00000252804:p.Pro387Gln					PXDN_uc002qxb.1_Missense_Mutation_p.P387Q|PXDN_uc002qxc.1_Missense_Mutation_p.P204Q	p.P387Q	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	10	1224	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	387			Ig-like C2-type 2.		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.1160C>A	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.72|11.72	1.723058|1.723058	0.30503|0.30503	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000252804|ENST00000433670	T|.	0.27890|.	1.64|.	4.71|4.71	4.71|4.71	0.59529|0.59529	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.438834|.	0.24896|.	N|.	0.034722|.	T|T	0.61515|0.61515	0.2353|0.2353	L|L	0.45137|0.45137	1.4|1.4	0.50467|0.50467	D|D	0.999878|0.999878	B;P|.	0.50156|.	0.219;0.932|.	B;P|.	0.53518|.	0.165;0.728|.	T|T	0.58222|0.58222	-0.7674|-0.7674	10|5	0.31617|.	T|.	0.26|.	-21.2344|-21.2344	16.0225|16.0225	0.80509|0.80509	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	387;387|.	Q92626-2;Q92626|.	.;PXDN_HUMAN|.	Q|S	387|383	ENSP00000252804:P387Q|.	ENSP00000252804:P387Q|.	P|R	-|-	2|1	0|0	PXDN|PXDN	1649124|1649124	1.000000|1.000000	0.71417|0.71417	0.595000|0.595000	0.28798|0.28798	0.023000|0.023000	0.10783|0.10783	9.560000|9.560000	0.98139|0.98139	2.451000|2.451000	0.82905|0.82905	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.632	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		6	23	1	0	8.13e-05	9.06e-05	6	23				
NBAS	51594	broad.mit.edu	37	2	15496497	15496497	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:15496497T>A	ENST00000281513.5	-	33	3886	c.3861A>T	c.(3859-3861)ttA>ttT	p.L1287F	NBAS_ENST00000441750.1_Missense_Mutation_p.L1167F	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1287					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CCTGCTCCACTAAAAGGATTA	0.453																																						uc002rcc.1		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.(3859-3861)TTA>TTT		neuroblastoma-amplified protein							161.0	153.0	156.0					2																	15496497		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15496497T>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.3861A>T	2.37:g.15496497T>A	ENSP00000281513:p.Leu1287Phe					NBAS_uc010exl.1_Missense_Mutation_p.L359F|NBAS_uc002rcd.1_RNA	p.L1287F	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			33	3887	-			1287					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.3861A>T	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.28|14.28	2.489808|2.489808	0.44249|0.44249	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513|ENST00000442506	T;T|.	0.19394|.	2.15;2.15|.	5.93|5.93	-2.96|-2.96	0.05547|0.05547	Secretory pathway Sec39 (1);|.	0.075173|.	0.53938|.	D|.	0.000047|.	T|.	0.63390|.	0.2507|.	M|M	0.69823|0.69823	2.125|2.125	0.36016|0.36016	D|D	0.838423|0.838423	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.83275|.	0.992;0.996|.	T|.	0.69075|.	-0.5241|.	10|.	0.87932|.	D|.	0|.	.|.	12.6898|12.6898	0.56968|0.56968	0.0:0.5184:0.0:0.4816|0.0:0.5184:0.0:0.4816	.|.	1167;1287|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	F|L	1167;1287|335	ENSP00000413201:L1167F;ENSP00000281513:L1287F|.	ENSP00000281513:L1287F|.	L|X	-|-	3|2	2|0	NBAS|NBAS	15413948|15413948	1.000000|1.000000	0.71417|0.71417	0.017000|0.017000	0.16124|0.16124	0.203000|0.203000	0.24098|0.24098	0.532000|0.532000	0.23067|0.23067	-0.379000|-0.379000	0.07906|0.07906	-0.326000|-0.326000	0.08463|0.08463	TTA|TAG		0.453	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		3	34	0	0	0	0	3	34				
PRKD3	23683	broad.mit.edu	37	2	37505011	37505011	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:37505011G>T	ENST00000379066.1	-	9	2056	c.1294C>A	c.(1294-1296)Ctg>Atg	p.L432M	PRKD3_ENST00000234179.2_Missense_Mutation_p.L432M			O94806	KPCD3_HUMAN	protein kinase D3	432	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TTACTGACCAGGTTATCCCTG	0.378																																					Melanoma(80;621 1355 8613 11814 51767)	uc002rqd.2		NA																	0				lung(2)|ovary(1)|central_nervous_system(1)	4						c.(1294-1296)CTG>ATG		protein kinase D3							268.0	224.0	239.0					2																	37505011		2203	4300	6503	SO:0001583	missense	23683				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr2:37505011G>T	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.1294C>A	2.37:g.37505011G>T	ENSP00000368356:p.Leu432Met					PRKD3_uc002rqe.1_Missense_Mutation_p.L32M|PRKD3_uc002rqf.1_Missense_Mutation_p.L432M	p.L432M	NM_005813	NP_005804	O94806	KPCD3_HUMAN			8	1849	-		all_hematologic(82;0.21)	432			PH.		D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	c.1294C>A	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.230680	0.39399	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	T;T	0.75589	-0.95;-0.95	5.41	3.27	0.37495	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000006	T	0.59487	0.2197	L	0.35487	1.065	0.50313	D	0.999863	B;B	0.15141	0.012;0.002	B;B	0.23852	0.049;0.048	T	0.49978	-0.8881	10	0.18276	T	0.48	-10.1674	7.7563	0.28925	0.1579:0.0:0.7072:0.1348	.	432;432	O94806-2;O94806	.;KPCD3_HUMAN	M	432	ENSP00000368356:L432M;ENSP00000234179:L432M	ENSP00000234179:L432M	L	-	1	2	PRKD3	37358515	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	3.228000	0.51270	1.279000	0.44446	0.655000	0.94253	CTG		0.378	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		83	43	1	0	1.13e-35	1.68e-35	83	43				
KCNG3	170850	broad.mit.edu	37	2	42720364	42720364	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:42720364G>C	ENST00000306078.1	-	1	873	c.278C>G	c.(277-279)tCc>tGc	p.S93C	MTA3_ENST00000405592.1_5'Flank|KCNG3_ENST00000394973.4_Missense_Mutation_p.S93C	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	93					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						GTTGTAGAAGGAGAGCTCGCA	0.647																																						uc002rsn.2		NA																	0				central_nervous_system(1)	1						c.(277-279)TCC>TGC		potassium voltage-gated channel, subfamily G,							24.0	26.0	25.0					2																	42720364		2201	4298	6499	SO:0001583	missense	170850					endoplasmic reticulum|voltage-gated potassium channel complex	protein binding	g.chr2:42720364G>C	AB070604	CCDS1809.1, CCDS42674.1	2p21	2011-07-05			ENSG00000171126	ENSG00000171126		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18306	protein-coding gene	gene with protein product		606767				11852086, 16382104	Standard	NM_133329		Approved	Kv6.3	uc002rsn.3	Q8TAE7	OTTHUMG00000128604	ENST00000306078.1:c.278C>G	2.37:g.42720364G>C	ENSP00000304127:p.Ser93Cys					MTA3_uc002rso.1_5'Flank|KCNG3_uc002rsm.2_Missense_Mutation_p.S93C	p.S93C	NM_133329	NP_579875	Q8TAE7	KCNG3_HUMAN			1	874	-			93			Cytoplasmic (Potential).		Q53SC1	Missense_Mutation	SNP	ENST00000306078.1	37	c.278C>G	CCDS1809.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471185	0.84533	.	.	ENSG00000171126	ENST00000306078;ENST00000394973	T;T	0.78481	-1.18;-1.18	3.54	3.54	0.40534	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.064498	0.64402	D	0.000004	D	0.85737	0.5766	M	0.61703	1.905	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	D	0.87809	0.2630	10	0.72032	D	0.01	.	15.3019	0.73958	0.0:0.0:1.0:0.0	.	93;93	Q8TAE7;Q8TAE7-2	KCNG3_HUMAN;.	C	93	ENSP00000304127:S93C;ENSP00000378424:S93C	ENSP00000304127:S93C	S	-	2	0	KCNG3	42573868	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.127000	0.77210	1.818000	0.53035	0.455000	0.32223	TCC		0.647	KCNG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250464.2	NM_172344		21	8	0	0	0	0	21	8				
MTIF2	4528	broad.mit.edu	37	2	55470638	55470638	+	Missense_Mutation	SNP	C	C	T	rs188291557		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:55470638C>T	ENST00000263629.4	-	12	1793	c.1478G>A	c.(1477-1479)cGg>cAg	p.R493Q	MTIF2_ENST00000403721.1_Missense_Mutation_p.R493Q|MTIF2_ENST00000394600.3_Missense_Mutation_p.R493Q	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	493					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						TTCTAAAAACCGTAGAATTGA	0.343																																						uc002ryn.2		NA																	0				ovary(1)	1						c.(1477-1479)CGG>CAG		mitochondrial translational initiation factor 2							149.0	149.0	149.0					2																	55470638		2203	4300	6503	SO:0001583	missense	4528				regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity	g.chr2:55470638C>T	L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.1478G>A	2.37:g.55470638C>T	ENSP00000263629:p.Arg493Gln					MTIF2_uc010yox.1_Missense_Mutation_p.R162Q|MTIF2_uc002ryo.2_Missense_Mutation_p.R493Q	p.R493Q	NM_001005369	NP_001005369	P46199	IF2M_HUMAN			13	2215	-			493					D6W5D0	Missense_Mutation	SNP	ENST00000263629.4	37	c.1478G>A	CCDS1853.1	.	.	.	.	.	.	.	.	.	.	C	2.104	-0.405266	0.04832	.	.	ENSG00000085760	ENST00000403721;ENST00000263629;ENST00000394600;ENST00000418823	T;T;T;T	0.58358	0.34;0.34;0.34;0.91	5.6	1.76	0.24704	.	0.574220	0.18261	N	0.146628	T	0.22360	0.0539	N	0.04018	-0.295	0.23215	N	0.998105	B	0.06786	0.001	B	0.06405	0.002	T	0.12837	-1.0532	10	0.19147	T	0.46	-1.5114	2.9042	0.05715	0.2013:0.0808:0.1004:0.6175	.	493	P46199	IF2M_HUMAN	Q	493;493;493;171	ENSP00000384481:R493Q;ENSP00000263629:R493Q;ENSP00000378099:R493Q;ENSP00000403492:R171Q	ENSP00000263629:R493Q	R	-	2	0	MTIF2	55324142	0.972000	0.33761	0.065000	0.19835	0.000000	0.00434	2.814000	0.48010	0.081000	0.16988	-2.404000	0.00223	CGG		0.343	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251486.4	NM_002453		47	77	0	0	0	0	47	77				
EHBP1	23301	broad.mit.edu	37	2	63176055	63176055	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:63176055G>T	ENST00000263991.5	+	14	2661	c.2179G>T	c.(2179-2181)Gac>Tac	p.D727Y	EHBP1_ENST00000405289.1_Missense_Mutation_p.D692Y|EHBP1_ENST00000431489.1_Missense_Mutation_p.D692Y|EHBP1_ENST00000354487.3_Missense_Mutation_p.D692Y|EHBP1_ENST00000405015.3_Missense_Mutation_p.D692Y	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	727						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TCAAACTCTAGACATCGGTAG	0.353																																						uc002sby.2		NA																	0				ovary(1)|breast(1)	2						c.(2179-2181)GAC>TAC		EH domain binding protein 1 isoform 1							63.0	69.0	67.0					2																	63176055		2203	4300	6503	SO:0001583	missense	23301	Hereditary_Prostate_Cancer				cytoplasm|membrane		g.chr2:63176055G>T	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.2179G>T	2.37:g.63176055G>T	ENSP00000263991:p.Asp727Tyr					EHBP1_uc010fcp.2_Missense_Mutation_p.D692Y|EHBP1_uc002sbz.2_Missense_Mutation_p.D692Y|EHBP1_uc002scb.2_Missense_Mutation_p.D692Y	p.D727Y	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		14	2661	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		727					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	ENST00000263991.5	37	c.2179G>T	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.961683	0.34659	.	.	ENSG00000115504	ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	T;T;T;T;T	0.74632	-0.84;-0.84;-0.86;-0.85;-0.85	6.03	3.26	0.37387	.	0.569068	0.18267	N	0.146445	T	0.73560	0.3602	L	0.42245	1.32	0.09310	N	1	B;P;B	0.39940	0.114;0.696;0.039	B;P;B	0.49012	0.144;0.598;0.1	T	0.64698	-0.6346	10	0.66056	D	0.02	.	9.6367	0.39811	0.1163:0.121:0.7627:0.0	.	692;692;727	Q8NDI1-2;Q8NDI1-3;Q8NDI1	.;.;EHBP1_HUMAN	Y	692;692;727;692;692	ENSP00000384143:D692Y;ENSP00000403783:D692Y;ENSP00000263991:D727Y;ENSP00000346482:D692Y;ENSP00000385524:D692Y	ENSP00000263991:D727Y	D	+	1	0	EHBP1	63029559	0.852000	0.29690	0.005000	0.12908	0.983000	0.72400	1.903000	0.39858	0.434000	0.26340	0.655000	0.94253	GAC		0.353	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		24	33	1	0	2.28e-19	3.25e-19	24	33				
TTC31	64427	broad.mit.edu	37	2	74719855	74719855	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:74719855G>C	ENST00000233623.5	+	12	1251	c.1244G>C	c.(1243-1245)tGc>tCc	p.C415S	TTC31_ENST00000410003.1_3'UTR|TTC31_ENST00000442235.2_Intron	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	415										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						CTCCGCTCTTGCCTTCTCCAC	0.597																																						uc002slt.2		NA																	0					0						c.(1243-1245)TGC>TCC		tetratricopeptide repeat domain 31							46.0	50.0	49.0					2																	74719855		1967	4149	6116	SO:0001583	missense	64427						binding	g.chr2:74719855G>C	AK026819	CCDS42701.1	2p13.1	2013-01-11			ENSG00000115282	ENSG00000115282		"""Tetratricopeptide (TTC) repeat domain containing"""	25759	protein-coding gene	gene with protein product						12477932	Standard	NM_022492		Approved	FLJ12788	uc002slt.2	Q49AM3	OTTHUMG00000152887	ENST00000233623.5:c.1244G>C	2.37:g.74719855G>C	ENSP00000233623:p.Cys415Ser					TTC31_uc010yrv.1_Intron|TTC31_uc002slu.2_Missense_Mutation_p.C269S	p.C415S	NM_022492	NP_071937	Q49AM3	TTC31_HUMAN			12	1267	+			415					Q4KN40|Q53FD4|Q9H9F7	Missense_Mutation	SNP	ENST00000233623.5	37	c.1244G>C	CCDS42701.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.79|16.79	3.219202|3.219202	0.58560|0.58560	.|.	.|.	ENSG00000115282|ENSG00000115282	ENST00000414247|ENST00000233623	.|T	.|0.60299	.|0.2	3.99|3.99	3.99|3.99	0.46301|0.46301	.|Tetratricopeptide-like helical (1);	.|0.403279	.|0.24497	.|N	.|0.038016	T|T	0.44891|0.44891	0.1315|0.1315	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|P;P	.|0.39696	.|0.683;0.508	.|B;B	.|0.38296	.|0.27;0.246	T|T	0.37686|0.37686	-0.9695|-0.9695	5|10	.|0.29301	.|T	.|0.29	.|.	11.9445|11.9445	0.52920|0.52920	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|383;415	.|Q86XF2;Q49AM3	.|.;TTC31_HUMAN	P|S	143|415	.|ENSP00000233623:C415S	.|ENSP00000233623:C415S	A|C	+|+	1|2	0|0	TTC31|TTC31	74573363|74573363	0.984000|0.984000	0.35163|0.35163	0.363000|0.363000	0.25875|0.25875	0.986000|0.986000	0.74619|0.74619	3.988000|3.988000	0.56951|0.56951	1.947000|1.947000	0.56498|0.56498	0.491000|0.491000	0.48974|0.48974	GCC|TGC		0.597	TTC31-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328422.1	NM_022492		21	62	0	0	0	0	21	62				
SEMA4F	10505	broad.mit.edu	37	2	74906906	74906906	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:74906906G>T	ENST00000357877.2	+	14	2032	c.1883G>T	c.(1882-1884)tGt>tTt	p.C628F	SEMA4F_ENST00000339773.5_Missense_Mutation_p.C473F|SEMA4F_ENST00000473350.1_3'UTR	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	628	Ig-like C2-type.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GCTTATGCCTGTGAATGTCAG	0.662																																						uc002sna.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1882-1884)TGT>TTT		semaphorin W precursor							55.0	61.0	59.0					2																	74906906		2203	4300	6503	SO:0001583	missense	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74906906G>T	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1883G>T	2.37:g.74906906G>T	ENSP00000350547:p.Cys628Phe					SEMA4F_uc010ffr.1_Missense_Mutation_p.C240F|SEMA4F_uc002snb.1_Missense_Mutation_p.C240F|SEMA4F_uc002snc.1_Missense_Mutation_p.C473F	p.C628F	NM_004263	NP_004254	O95754	SEM4F_HUMAN			14	1994	+			628			Ig-like C2-type.|Extracellular (Potential).		Q542Y7|Q9NS35	Missense_Mutation	SNP	ENST00000357877.2	37	c.1883G>T	CCDS1955.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.821227	0.71028	.	.	ENSG00000135622	ENST00000357877;ENST00000339773	T;T	0.47869	1.22;0.83	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.48926	0.1527	N	0.08118	0	0.46241	D	0.998943	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.59674	-0.7410	10	0.87932	D	0	.	14.0425	0.64684	0.0:0.0:1.0:0.0	.	473;628	O95754-2;O95754	.;SEM4F_HUMAN	F	628;473	ENSP00000350547:C628F;ENSP00000342675:C473F	ENSP00000342675:C473F	C	+	2	0	SEMA4F	74760414	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.844000	0.69430	2.376000	0.81061	0.467000	0.42956	TGT		0.662	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		25	84	1	0	8.25e-16	1.15e-15	25	84				
LRRTM4	80059	broad.mit.edu	37	2	77745756	77745756	+	Silent	SNP	T	T	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:77745756T>G	ENST00000409093.1	-	3	1575	c.1239A>C	c.(1237-1239)gcA>gcC	p.A413A	LRRTM4_ENST00000409884.1_Silent_p.A413A|LRRTM4_ENST00000409911.1_Silent_p.A414A|LRRTM4_ENST00000409282.1_Silent_p.A414A|LRRTM4_ENST00000409088.3_Silent_p.A413A			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	413					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		ACTCTTGCTCTGCGCCAGGAA	0.473																																						uc002snr.2		NA																	0				pancreas(3)|ovary(1)	4						c.(1237-1239)GCA>GCC		leucine rich repeat transmembrane neuronal 4							106.0	105.0	105.0					2																	77745756		1907	4127	6034	SO:0001819	synonymous_variant	80059					integral to membrane		g.chr2:77745756T>G	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1239A>C	2.37:g.77745756T>G						LRRTM4_uc002snq.2_Silent_p.A413A|LRRTM4_uc002sns.2_Silent_p.A413A|LRRTM4_uc002snt.2_Silent_p.A414A	p.A413A	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1654	-			413			Extracellular (Potential).		Q4FZ98|Q6UXJ7	Silent	SNP	ENST00000409093.1	37	c.1239A>C	CCDS46346.1																																																																																				0.473	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		36	28	0	0	0	0	36	28				
CNNM4	26504	broad.mit.edu	37	2	97464940	97464940	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:97464940G>T	ENST00000377075.2	+	4	1926	c.1828G>T	c.(1828-1830)Gac>Tac	p.D610Y	MIR3127_ENST00000583925.1_RNA|CNNM4_ENST00000540067.1_Missense_Mutation_p.D97Y|CNNM4_ENST00000496186.1_3'UTR	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	610					biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						TAAGCCGGCCGACTACTTCAT	0.592																																						uc002swx.2		NA																	0				breast(2)|ovary(1)	3						c.(1828-1830)GAC>TAC		cyclin M4							94.0	85.0	88.0					2																	97464940		2203	4300	6503	SO:0001583	missense	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97464940G>T	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"""cyclin M4"""	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1828G>T	2.37:g.97464940G>T	ENSP00000366275:p.Asp610Tyr					CNNM4_uc010yuy.1_Missense_Mutation_p.D97Y	p.D610Y	NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN			4	1926	+			610					B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	ENST00000377075.2	37	c.1828G>T	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	G	27.4	4.823715	0.90873	.	.	ENSG00000158158	ENST00000377075;ENST00000540067	T	0.53206	0.63	5.02	5.02	0.67125	RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.74321	0.3701	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.80216	-0.1474	10	0.87932	D	0	-22.2048	17.4872	0.87692	0.0:0.0:1.0:0.0	.	97;610	B7Z1U0;Q6P4Q7	.;CNNM4_HUMAN	Y	610;97	ENSP00000366275:D610Y	ENSP00000366275:D610Y	D	+	1	0	CNNM4	96828667	1.000000	0.71417	0.974000	0.42286	0.886000	0.51366	7.911000	0.87458	2.492000	0.84095	0.561000	0.74099	GAC		0.592	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		32	54	1	0	6.2e-25	9.04e-25	32	54				
RANBP2	5903	broad.mit.edu	37	2	109367719	109367719	+	Splice_Site	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:109367719G>T	ENST00000283195.6	+	10	1399		c.e10-1			NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTTTATTTCAGGTGCTATTCG	0.338																																						uc002tem.3		NA																RANBP2/ALK(16)	0				soft_tissue(16)|lung(1)|pancreas(1)	18						c.e10-1		RAN binding protein 2							85.0	105.0	98.0					2																	109367719		1506	2705	4211	SO:0001630	splice_region_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109367719G>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1274-1G>T	2.37:g.109367719G>T							p.G425_splice	NM_006267	NP_006258	P49792	RBP2_HUMAN			10	1400	+								Q13074|Q15280|Q53TE2|Q59FH7	Splice_Site	SNP	ENST00000283195.6	37	c.1274_splice	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642992	0.47153	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8314	0.92141	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RANBP2	108734151	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	8.957000	0.93082	2.521000	0.84997	0.650000	0.86243	.		0.338	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267	Intron	77	142	1	0	8.5e-49	1.27e-48	77	142				
DPP10	57628	broad.mit.edu	37	2	116283477	116283477	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:116283477A>T	ENST00000410059.1	+	5	850	c.370A>T	c.(370-372)Acc>Tcc	p.T124S	DPP10_ENST00000409163.1_Missense_Mutation_p.T74S|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000310323.8_Missense_Mutation_p.T117S|DPP10_ENST00000393147.2_Missense_Mutation_p.T128S	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	124						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTTCTAGGTAACCTTCAAAGC	0.279																																						uc002tla.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(370-372)ACC>TCC		dipeptidyl peptidase 10 isoform long							74.0	74.0	74.0					2																	116283477		2203	4299	6502	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116283477A>T	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.370A>T	2.37:g.116283477A>T	ENSP00000386565:p.Thr124Ser					DPP10_uc002tlb.1_Missense_Mutation_p.T74S|DPP10_uc002tlc.1_Missense_Mutation_p.T120S|DPP10_uc002tle.2_Missense_Mutation_p.T128S|DPP10_uc002tlf.1_Missense_Mutation_p.T117S	p.T124S	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			5	827	+			124			Extracellular (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.370A>T	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	A	3.846	-0.032865	0.07543	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000419287;ENST00000476155	T;T;D;T;T;D	0.95918	1.59;1.59;-3.85;1.59;1.59;-3.85	4.99	3.84	0.44239	.	0.355821	0.28618	N	0.014709	D	0.85699	0.5757	N	0.05441	-0.05	0.41132	D	0.985895	B;B;B;B	0.24092	0.097;0.013;0.02;0.059	B;B;B;B	0.25506	0.061;0.007;0.013;0.028	T	0.78437	-0.2204	10	0.02654	T	1	-33.2372	8.4133	0.32657	0.9119:0.0:0.0881:0.0	.	117;128;120;124	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	S	124;74;120;128;117;74;74	ENSP00000386565:T124S;ENSP00000387038:T74S;ENSP00000376854:T120S;ENSP00000376855:T128S;ENSP00000309066:T117S;ENSP00000402499:T74S	ENSP00000309066:T117S	T	+	1	0	DPP10	115999947	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	4.722000	0.61958	0.925000	0.37094	0.460000	0.39030	ACC		0.279	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		6	41	0	0	0	0	6	41				
DPP10	57628	broad.mit.edu	37	2	116497324	116497324	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:116497324T>A	ENST00000410059.1	+	9	1187	c.707T>A	c.(706-708)cTg>cAg	p.L236Q	DPP10_ENST00000409163.1_Missense_Mutation_p.L186Q|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000310323.8_Missense_Mutation_p.L229Q|DPP10_ENST00000393147.2_Missense_Mutation_p.L240Q	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	236						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GAGGAACTCCTGCATTCTCAC	0.458																																						uc002tla.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(706-708)CTG>CAG		dipeptidyl peptidase 10 isoform long							131.0	121.0	125.0					2																	116497324		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116497324T>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.707T>A	2.37:g.116497324T>A	ENSP00000386565:p.Leu236Gln					DPP10_uc002tlb.1_Missense_Mutation_p.L186Q|DPP10_uc002tlc.1_Missense_Mutation_p.L232Q|DPP10_uc002tle.2_Missense_Mutation_p.L240Q|DPP10_uc002tlf.1_Missense_Mutation_p.L229Q	p.L236Q	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			9	1164	+			236			Extracellular (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.707T>A	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.553740	0.86231	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.1	5.1	0.69264	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.71904	0.3395	M	0.92077	3.27	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	T	0.79720	-0.1685	10	0.87932	D	0	-8.7349	14.5113	0.67789	0.0:0.0:0.0:1.0	.	229;240;232;236	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	Q	236;186;232;240;229;186	ENSP00000386565:L236Q;ENSP00000387038:L186Q;ENSP00000376854:L232Q;ENSP00000376855:L240Q;ENSP00000309066:L229Q	ENSP00000309066:L229Q	L	+	2	0	DPP10	116213794	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.825000	0.86693	2.270000	0.75569	0.460000	0.39030	CTG		0.458	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		37	42	0	0	0	0	37	42				
CNTNAP5	129684	broad.mit.edu	37	2	125281880	125281880	+	Splice_Site	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:125281880G>A	ENST00000431078.1	+	9	1689	c.1325G>A	c.(1324-1326)gGc>gAc	p.G442D		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	442	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCTCTTGCAGGCAGCAACTTG	0.547																																						uc002tno.2		NA																	0				ovary(10)	10						c.(1324-1326)GGC>GAC		contactin associated protein-like 5 precursor							71.0	75.0	74.0					2																	125281880		2066	4223	6289	SO:0001630	splice_region_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125281880G>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1325-1G>A	2.37:g.125281880G>A						CNTNAP5_uc010flu.2_Missense_Mutation_p.G443D	p.G442D	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	9	1689	+			442			Laminin G-like 2.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.1325G>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.965039	0.92855	.	.	ENSG00000155052	ENST00000431078	T	0.80653	-1.4	5.94	5.94	0.96194	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.49916	D	0.000131	D	0.89825	0.6827	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88645	0.3178	9	.	.	.	.	19.354	0.94404	0.0:0.0:1.0:0.0	.	442	Q8WYK1	CNTP5_HUMAN	D	442	ENSP00000399013:G442D	.	G	+	2	0	CNTNAP5	124998350	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.393000	0.90182	2.820000	0.97059	0.650000	0.86243	GGC		0.547	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		Missense_Mutation	26	27	0	0	0	0	26	27				
THSD7B	80731	broad.mit.edu	37	2	138414459	138414459	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:138414459G>T	ENST00000409968.1	+	23	4377	c.4199G>T	c.(4198-4200)aGa>aTa	p.R1400I	THSD7B_ENST00000413152.2_Missense_Mutation_p.R1372I|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1403I			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1402	TSP type-1 18. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CGCCAGTCTAGATCAAGGACT	0.463																																						uc002tva.1		NA																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(4111-4113)AGA>ATA		thrombospondin, type I, domain containing 7B							87.0	89.0	88.0					2																	138414459		1881	4100	5981	SO:0001583	missense	80731							g.chr2:138414459G>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4199G>T	2.37:g.138414459G>T	ENSP00000387145:p.Arg1400Ile					THSD7B_uc010zbj.1_Intron	p.R1371I	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	22	4112	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.4112G>T		.	.	.	.	.	.	.	.	.	.	G	34	5.299424	0.95574	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.80909	-1.43;-1.43;-1.43	5.95	5.95	0.96441	.	0.046530	0.85682	D	0.000000	D	0.90086	0.6903	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.89676	0.3887	10	0.62326	D	0.03	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	1372	C9JKN6	.	I	1400;1403;1372	ENSP00000387145:R1400I;ENSP00000272643:R1403I;ENSP00000413841:R1372I	ENSP00000272643:R1403I	R	+	2	0	THSD7B	138130929	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.824000	0.97209	0.655000	0.94253	AGA		0.463	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		17	75	1	0	6.5e-13	8.82e-13	17	75				
LRP1B	53353	broad.mit.edu	37	2	141709504	141709504	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:141709504G>T	ENST00000389484.3	-	19	3864	c.2893C>A	c.(2893-2895)Cca>Aca	p.P965T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	965					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCACAAGTTGGGAATTCTGTG	0.398										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(2893-2895)CCA>ACA		low density lipoprotein-related protein 1B							150.0	132.0	138.0					2																	141709504		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141709504G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2893C>A	2.37:g.141709504G>T	ENSP00000374135:p.Pro965Thr	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Missense_Mutation_p.P147T	p.P965T	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	19	3865	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	965			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.2893C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644242	0.87859	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.95588	-3.75;-3.75	6.05	6.05	0.98169	.	0.000000	0.64402	U	0.000001	D	0.95149	0.8428	N	0.20530	0.585	0.80722	D	1	P;D	0.63880	0.782;0.993	P;D	0.63113	0.484;0.911	D	0.93171	0.6566	10	0.22109	T	0.4	.	20.6013	0.99457	0.0:0.0:1.0:0.0	.	148;965	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	T	965;903;110	ENSP00000374135:P965T;ENSP00000413239:P110T	ENSP00000374135:P965T	P	-	1	0	LRP1B	141425974	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.081000	0.94049	2.878000	0.98634	0.650000	0.86243	CCA		0.398	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		7	30	1	0	8.13e-05	9.06e-05	7	30				
ZEB2	9839	broad.mit.edu	37	2	145157042	145157042	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:145157042A>G	ENST00000558170.2	-	8	2896	c.1712T>C	c.(1711-1713)aTg>aCg	p.M571T	ZEB2_ENST00000303660.4_Missense_Mutation_p.M571T|ZEB2_ENST00000409487.3_Missense_Mutation_p.M571T|ZEB2_ENST00000539609.3_Missense_Mutation_p.M547T	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	571					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GTTCTCAATCATTTTGTCATC	0.408																																					Melanoma(33;1235 1264 5755 16332)	uc002tvu.2		NA																	0				ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(1711-1713)ATG>ACG		zinc finger homeobox 1b							207.0	206.0	207.0					2																	145157042		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145157042A>G	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1712T>C	2.37:g.145157042A>G	ENSP00000454157:p.Met571Thr					ZEB2_uc002tvv.2_Missense_Mutation_p.M565T|ZEB2_uc010zbm.1_Missense_Mutation_p.M542T|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.M600T	p.M571T	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	2192	-			571					A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.1712T>C	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	A	0.631	-0.817393	0.02776	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.74	5.74	0.90152	.	0.076397	0.85682	D	0.000000	T	0.61763	0.2373	N	0.11560	0.145	0.44611	D	0.997587	B;B;B;B	0.22003	0.002;0.055;0.055;0.063	B;B;B;B	0.24974	0.001;0.014;0.014;0.057	T	0.58651	-0.7599	10	0.14252	T	0.57	-10.9141	16.0439	0.80704	1.0:0.0:0.0:0.0	.	547;436;570;571	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	T	547;571;571;571	ENSP00000443792:M547T;ENSP00000302501:M571T;ENSP00000386854:M571T;ENSP00000395496:M571T	ENSP00000302501:M571T	M	-	2	0	ZEB2	144873512	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.115000	0.71566	2.180000	0.69256	0.528000	0.53228	ATG		0.408	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		26	86	0	0	0	0	26	86				
NEB	4703	broad.mit.edu	37	2	152486055	152486055	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:152486055C>A	ENST00000172853.10	-	64	9247	c.9100G>T	c.(9100-9102)Gat>Tat	p.D3034Y	NEB_ENST00000603639.1_Missense_Mutation_p.D3277Y|NEB_ENST00000604864.1_Missense_Mutation_p.D3277Y|NEB_ENST00000427231.2_Missense_Mutation_p.D3277Y|NEB_ENST00000409198.1_Missense_Mutation_p.D3034Y|NEB_ENST00000397345.3_Missense_Mutation_p.D3277Y			P20929	NEBU_HUMAN	nebulin	3034					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)		CTACTCACATCACTGATAACG	0.448																																						uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(9100-9102)GAT>TAT		nebulin isoform 3							137.0	135.0	136.0					2																	152486055		1949	4139	6088	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.chr2:152486055C>A	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.9100G>T	2.37:g.152486055C>A	ENSP00000172853:p.Asp3034Tyr					NEB_uc002txu.2_Missense_Mutation_p.D381Y	p.D3034Y	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	64	9291	-			3034			Nebulin 82.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.9100G>T		.	.	.	.	.	.	.	.	.	.	C	25.4	4.636225	0.87760	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	6.04	6.04	0.98038	.	0.050499	0.85682	D	0.000000	T	0.81293	0.4792	M	0.89287	3.02	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	D	0.83371	0.0007	10	0.87932	D	0	.	20.1899	0.98228	0.0:1.0:0.0:0.0	.	3034	P20929	NEBU_HUMAN	Y	3034;3277;3277;3034	ENSP00000386259:D3034Y;ENSP00000380505:D3277Y;ENSP00000416578:D3277Y;ENSP00000172853:D3034Y	ENSP00000172853:D3034Y	D	-	1	0	NEB	152194301	1.000000	0.71417	0.997000	0.53966	0.633000	0.38033	7.557000	0.82243	2.873000	0.98535	0.563000	0.77884	GAT		0.448	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		12	61	1	0	5.51e-06	6.37e-06	12	61				
GALNT13	114805	broad.mit.edu	37	2	155295167	155295167	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:155295167C>T	ENST00000392825.3	+	12	2026	c.1459C>T	c.(1459-1461)Ctc>Ttc	p.L487F	AC009227.2_ENST00000434635.1_RNA|GALNT13_ENST00000409237.1_Missense_Mutation_p.L487F|GALNT13_ENST00000487047.1_3'UTR	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	487	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGTTTCTAGACTCAATGGACC	0.318																																						uc002tyr.3		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(1459-1461)CTC>TTC		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							129.0	131.0	130.0					2																	155295167		2203	4300	6503	SO:0001583	missense	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155295167C>T	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.1459C>T	2.37:g.155295167C>T	ENSP00000376570:p.Leu487Phe					GALNT13_uc002tyt.3_Missense_Mutation_p.L487F|GALNT13_uc010fod.2_Missense_Mutation_p.T219I|uc002tyu.1_Intron	p.L487F	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN			12	2026	+			487			Ricin B-type lectin.|Lumenal (Potential).		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	c.1459C>T	CCDS2199.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.182628|4.182628	0.78677|0.78677	.|.	.|.	ENSG00000144278|ENSG00000144278	ENST00000392825;ENST00000409237;ENST00000453715|ENST00000450838;ENST00000422126	T;T;T|.	0.27256|.	1.68;1.68;1.68|.	5.55|5.55	5.55|5.55	0.83447|0.83447	Ricin B-related lectin (1);Ricin B lectin (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60090|0.60090	0.2242|0.2242	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	P;B|B	0.41366|0.02656	0.747;0.34|0.0	P;B|B	0.45753|0.01281	0.492;0.236|0.0	T|T	0.56390|0.56390	-0.7987|-0.7987	10|8	0.32370|0.49607	T|T	0.25|0.09	.|.	16.9935|16.9935	0.86360|0.86360	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	487;487|466	Q08ER7;Q8IUC8|Q8IUC8-2	.;GLT13_HUMAN|.	F|I	487;487;22|72;25	ENSP00000376570:L487F;ENSP00000387239:L487F;ENSP00000396612:L22F|.	ENSP00000376570:L487F|ENSP00000391469:T25I	L|T	+|+	1|2	0|0	GALNT13|GALNT13	155003413|155003413	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.781000|5.781000	0.68964|0.68964	2.611000|2.611000	0.88343|0.88343	0.655000|0.655000	0.94253|0.94253	CTC|ACT		0.318	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		15	88	0	0	0	0	15	88				
FIGN	55137	broad.mit.edu	37	2	164467941	164467941	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:164467941C>G	ENST00000333129.3	-	3	715	c.401G>C	c.(400-402)gGa>gCa	p.G134A	FIGN_ENST00000482917.1_5'UTR|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	134					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TGAACTGACTCCAGCTTTGCT	0.498																																						uc002uck.1		NA																	0				large_intestine(2)|ovary(1)|skin(1)	4						c.(400-402)GGA>GCA		fidgetin							108.0	103.0	104.0					2																	164467941		1958	4155	6113	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467941C>G	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.401G>C	2.37:g.164467941C>G	ENSP00000333836:p.Gly134Ala						p.G134A	NM_018086	NP_060556	Q5HY92	FIGN_HUMAN			3	712	-			134					B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.401G>C	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	C	15.32	2.798545	0.50208	.	.	ENSG00000182263	ENST00000333129	T	0.22743	1.94	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.28101	0.0693	M	0.64997	1.995	0.80722	D	1	D	0.56968	0.978	B	0.43867	0.434	T	0.03524	-1.1028	10	0.15499	T	0.54	-7.8194	20.6593	0.99626	0.0:1.0:0.0:0.0	.	134	Q5HY92	FIGN_HUMAN	A	134	ENSP00000333836:G134A	ENSP00000333836:G134A	G	-	2	0	FIGN	164176187	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.954000	0.70298	2.885000	0.99019	0.655000	0.94253	GGA		0.498	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		23	66	0	0	0	0	23	66				
SLC38A11	151258	broad.mit.edu	37	2	165795989	165795989	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:165795989A>C	ENST00000409149.3	-	5	631	c.340T>G	c.(340-342)Ttg>Gtg	p.L114V	SLC38A11_ENST00000493887.1_5'Flank|SLC38A11_ENST00000303735.4_Missense_Mutation_p.L92V|SLC38A11_ENST00000409662.1_Missense_Mutation_p.L114V|SLC38A11_ENST00000409058.1_Missense_Mutation_p.L145V	NM_001199148.1	NP_001186077.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	114					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						TTTCGGTACAAGGATAAAGGC	0.343																																						uc002ucv.1		NA																	0				ovary(1)	1						c.(340-342)TTG>GTG		solute carrier family 38, member 11							107.0	104.0	105.0					2																	165795989		2203	4299	6502	SO:0001583	missense	151258				amino acid transport|sodium ion transport	integral to membrane		g.chr2:165795989A>C		CCDS2224.1, CCDS56142.1	2q24.3	2013-05-22			ENSG00000169507	ENSG00000169507		"""Solute carriers"""	26836	protein-coding gene	gene with protein product							Standard	NM_173512		Approved	FLJ39822, AVT2	uc002ucw.2	Q08AI6	OTTHUMG00000132144	ENST00000409149.3:c.340T>G	2.37:g.165795989A>C	ENSP00000386272:p.Leu114Val					SLC38A11_uc002ucu.1_Missense_Mutation_p.L92V|SLC38A11_uc002ucw.1_Missense_Mutation_p.L114V	p.L114V	NM_173512	NP_775783	Q08AI6	S38AB_HUMAN			7	877	-			114			Extracellular (Potential).		B4DF99|Q8N887	Missense_Mutation	SNP	ENST00000409149.3	37	c.340T>G	CCDS56142.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.943134	0.73672	.	.	ENSG00000169507	ENST00000303735;ENST00000409149;ENST00000409058;ENST00000409662	T;T;T;T	0.02606	4.23;4.23;4.23;4.23	5.97	1.07	0.20283	.	0.261302	0.37955	N	0.001878	T	0.13415	0.0325	M	0.90759	3.145	0.45747	D	0.998643	D;D	0.65815	0.995;0.994	D;D	0.72338	0.977;0.971	T	0.00385	-1.1773	10	0.72032	D	0.01	-13.0171	4.4309	0.11527	0.5051:0.1704:0.3246:0.0	.	114;92	Q08AI6;Q08AI6-2	S38AB_HUMAN;.	V	92;114;145;114	ENSP00000306178:L92V;ENSP00000386272:L114V;ENSP00000387345:L145V;ENSP00000386774:L114V	ENSP00000306178:L92V	L	-	1	2	SLC38A11	165504235	1.000000	0.71417	0.985000	0.45067	0.987000	0.75469	2.766000	0.47629	0.160000	0.19432	0.533000	0.62120	TTG		0.343	SLC38A11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333390.1	NM_173512		9	48	0	0	0	0	9	48				
SCN7A	6332	broad.mit.edu	37	2	167328890	167328890	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:167328890G>T	ENST00000409855.1	-	5	635	c.509C>A	c.(508-510)gCa>gAa	p.A170E		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	170					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	AAATGATCCTGCCCAGACACC	0.343																																						uc002udu.1		NA																	0				large_intestine(1)	1						c.(508-510)GCA>GAA		sodium channel, voltage-gated, type VII, alpha							50.0	50.0	50.0					2																	167328890		1878	4139	6017	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167328890G>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.509C>A	2.37:g.167328890G>T	ENSP00000386796:p.Ala170Glu					SCN7A_uc010fpm.1_RNA	p.A170E	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			5	636	-			170						Missense_Mutation	SNP	ENST00000409855.1	37	c.509C>A	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750901	0.69533	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.98120	-4.06;-4.1;-4.73	5.37	0.717	0.18196	Ion transport (1);	0.725733	0.12821	N	0.436448	D	0.95652	0.8586	L	0.56769	1.78	0.24729	N	0.993104	P	0.35226	0.491	B	0.40329	0.326	D	0.91595	0.5290	10	0.87932	D	0	.	3.6986	0.08374	0.4762:0.1953:0.3285:0.0	.	170	Q01118	SCN7A_HUMAN	E	170	ENSP00000386796:A170E;ENSP00000413699:A170E;ENSP00000403846:A170E	ENSP00000259060:A170E	A	-	2	0	SCN7A	167037136	0.110000	0.22057	0.975000	0.42487	0.988000	0.76386	3.428000	0.52792	0.277000	0.22141	0.655000	0.94253	GCA		0.343	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			3	11	1	0	6.4e-05	7.17e-05	3	11				
TTN	7273	broad.mit.edu	37	2	179438979	179438979	+	Silent	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:179438979G>T	ENST00000591111.1	-	276	67181	c.66957C>A	c.(66955-66957)atC>atA	p.I22319I	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.I15020I|TTN_ENST00000460472.2_Silent_p.I14895I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.I21392I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.I15087I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Silent_p.I23960I			Q8WZ42	TITIN_HUMAN	titin	22319	Fibronectin type-III 62. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTTTCAACGATATAACTGG	0.413																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(64174-64176)ATC>ATA		titin isoform N2-A							60.0	58.0	59.0					2																	179438979		1854	4091	5945	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179438979G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.66957C>A	2.37:g.179438979G>T						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.I15087I|TTN_uc010zfi.1_Silent_p.I15020I|TTN_uc010zfj.1_Silent_p.I14895I	p.I21392I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	64400	-			22319					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.64176C>A																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	35	1	0	1.59e-06	1.88e-06	10	35				
TTN	7273	broad.mit.edu	37	2	179474460	179474460	+	Silent	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:179474460A>G	ENST00000591111.1	-	222	46991	c.46767T>C	c.(46765-46767)atT>atC	p.I15589I	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.I8290I|TTN_ENST00000460472.2_Silent_p.I8165I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.I14662I|TTN_ENST00000342175.6_Silent_p.I8357I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Silent_p.I17230I			Q8WZ42	TITIN_HUMAN	titin	15589	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGGTTCACTAATACCCGCGG	0.458																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(43984-43986)ATT>ATC		titin isoform N2-A							202.0	194.0	197.0					2																	179474460		1860	4099	5959	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179474460A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.46767T>C	2.37:g.179474460A>G						uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.I8357I|TTN_uc010zfi.1_Silent_p.I8290I|TTN_uc010zfj.1_Silent_p.I8165I	p.I14662I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		221	44210	-			15589					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.43986T>C																																																																																					0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		100	107	0	0	0	0	100	107				
TTN	7273	broad.mit.edu	37	2	179516662	179516662	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:179516662C>T	ENST00000591111.1	-	160	35031	c.34807G>A	c.(34807-34809)Gag>Aag	p.E11603K	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E10676K|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.E13110K			Q8WZ42	TITIN_HUMAN	titin	11603	Glu-rich.|Pro-rich.				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)			GCAGGAGGCTCTTCTAGGGCA	0.483																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(32026-32028)GAG>AAG		titin isoform N2-A							33.0	33.0	33.0					2																	179516662		1894	4111	6005	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179516662C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34807G>A	2.37:g.179516662C>T	ENSP00000465570:p.Glu11603Lys					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_5'Flank|TTN_uc002umx.1_5'Flank	p.E10676K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		159	32250	-			11603					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.32026G>A		.	.	.	.	.	.	.	.	.	.	C	18.69	3.678377	0.68042	.	.	ENSG00000155657	ENST00000342992	T	0.69806	-0.43	5.31	5.31	0.75309	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.66567	0.2802	N	0.05177	-0.1	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.75405	-0.3329	9	0.87932	D	0	.	17.5186	0.87781	0.0:1.0:0.0:0.0	.	11603	Q8WZ42	TITIN_HUMAN	K	10676	ENSP00000343764:E10676K	ENSP00000343764:E10676K	E	-	1	0	TTN	179224907	1.000000	0.71417	1.000000	0.80357	0.309000	0.27889	1.522000	0.35921	2.657000	0.90304	0.650000	0.86243	GAG		0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	13	0	0	0	0	5	13				
TTN	7273	broad.mit.edu	37	2	179582094	179582094	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:179582094G>A	ENST00000591111.1	-	86	24640	c.24416C>T	c.(24415-24417)cCt>cTt	p.P8139L	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P7212L|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.P8456L			Q8WZ42	TITIN_HUMAN	titin	12326	Ig-like 64.				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)			ATCAAAGAAAGGAGGCACTTC	0.403																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(21634-21636)CCT>CTT		titin isoform N2-A							64.0	63.0	63.0					2																	179582094		1864	4100	5964	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179582094G>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.24416C>T	2.37:g.179582094G>A	ENSP00000465570:p.Pro8139Leu					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P3873L	p.P7212L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		85	21859	-			8139					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.21635C>T		.	.	.	.	.	.	.	.	.	.	G	10.37	1.331156	0.24167	.	.	ENSG00000155657	ENST00000342992	T	0.80994	-1.44	5.73	5.73	0.89815	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.92652	0.7665	H	0.97077	3.935	0.80722	D	1	D	0.63046	0.992	P	0.58077	0.832	D	0.94398	0.7620	9	0.87932	D	0	.	20.2699	0.98469	0.0:0.0:1.0:0.0	.	8139	Q8WZ42	TITIN_HUMAN	L	7212	ENSP00000343764:P7212L	ENSP00000343764:P7212L	P	-	2	0	TTN	179290339	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.655000	0.83696	2.854000	0.98071	0.655000	0.94253	CCT		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	41	0	0	0	0	11	41				
TTN	7273	broad.mit.edu	37	2	179584098	179584098	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:179584098G>A	ENST00000591111.1	-	81	23292	c.23068C>T	c.(23068-23070)Cga>Tga	p.R7690*	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.R6763*|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Nonsense_Mutation_p.R8007*			Q8WZ42	TITIN_HUMAN	titin	13234	Ig-like 59.				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)			CCAGAGACTCGGCACTCCAAA	0.517																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(20287-20289)CGA>TGA		titin isoform N2-A							91.0	93.0	92.0					2																	179584098		1902	4116	6018	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179584098G>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.23068C>T	2.37:g.179584098G>A	ENSP00000465570:p.Arg7690*					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.R3424*	p.R6763*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		80	20511	-			7690					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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.20287C>T		.	.	.	.	.	.	.	.	.	.	G	58	32.197402	0.99980	.	.	ENSG00000155657	ENST00000342992	.	.	.	6.08	-0.329	0.12686	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.1468	0.89659	0.0:0.0:0.2856:0.7144	.	.	.	.	X	6763	.	ENSP00000343764:R6763X	R	-	1	2	TTN	179292343	1.000000	0.71417	0.948000	0.38648	0.265000	0.26407	1.664000	0.37439	0.018000	0.15052	0.655000	0.94253	CGA		0.517	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	68	0	0	0	0	11	68				
TTN	7273	broad.mit.edu	37	2	179654130	179654130	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:179654130G>A	ENST00000591111.1	-	13	2257	c.2033C>T	c.(2032-2034)aCt>aTt	p.T678I	TTN_ENST00000359218.5_Missense_Mutation_p.T632I|TTN_ENST00000460472.2_Missense_Mutation_p.T632I|TTN_ENST00000342992.6_Missense_Mutation_p.T678I|TTN_ENST00000360870.5_Missense_Mutation_p.T678I|TTN_ENST00000342175.6_Missense_Mutation_p.T632I|TTN_ENST00000589042.1_Missense_Mutation_p.T678I			Q8WZ42	TITIN_HUMAN	titin	0					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)			AGTAGCCATAGTTTCTCTAGT	0.373																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(2032-2034)ACT>ATT		titin isoform N2-A							197.0	189.0	192.0					2																	179654130		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179654130G>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.2033C>T	2.37:g.179654130G>A	ENSP00000465570:p.Thr678Ile					TTN_uc010zfh.1_Missense_Mutation_p.T632I|TTN_uc010zfi.1_Missense_Mutation_p.T632I|TTN_uc010zfj.1_Missense_Mutation_p.T632I|TTN_uc002unb.2_Missense_Mutation_p.T678I|TTN_uc010frg.1_Missense_Mutation_p.T260I	p.T678I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		13	2257	-			678					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.2033C>T		.	.	.	.	.	.	.	.	.	.	G	8.700	0.909415	0.17833	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870;ENST00000436599	T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98	5.37	-4.49	0.03504	Titin Z (1);Ribonuclease H-like (1);	.	.	.	.	T	0.18593	0.0446	N	0.03608	-0.345	0.09310	N	0.999999	B;B;B;B;B	0.23806	0.013;0.013;0.013;0.013;0.091	B;B;B;B;B	0.21360	0.013;0.013;0.024;0.024;0.034	T	0.26189	-1.0110	9	0.87932	D	0	.	10.0411	0.42158	0.0:0.1605:0.5028:0.3367	.	632;632;632;678;678	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	I	678;632;632;632;632;678;182	ENSP00000343764:T678I;ENSP00000434586:T632I;ENSP00000340554:T632I;ENSP00000352154:T632I;ENSP00000354117:T678I;ENSP00000405517:T182I	ENSP00000340554:T632I	T	-	2	0	TTN	179362375	0.013000	0.17824	0.612000	0.29024	0.945000	0.59286	-1.921000	0.01569	-0.813000	0.04357	-0.219000	0.12488	ACT		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		35	64	0	0	0	0	35	64				
TTN	7273	broad.mit.edu	37	2	179659664	179659664	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:179659664G>A	ENST00000591111.1	-	7	1454	c.1230C>T	c.(1228-1230)gcC>gcT	p.A410A	TTN_ENST00000359218.5_Silent_p.A410A|TTN_ENST00000460472.2_Silent_p.A410A|TTN_ENST00000342992.6_Silent_p.A410A|TTN_ENST00000360870.5_Silent_p.A410A|TTN_ENST00000342175.6_Silent_p.A410A|TTN_ENST00000589042.1_Silent_p.A410A			Q8WZ42	TITIN_HUMAN	titin	0	Ala-rich.				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)			TAGCACCAGTGGCAACAGCCT	0.498																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(1228-1230)GCC>GCT		titin isoform N2-A							91.0	91.0	91.0					2																	179659664		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179659664G>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.1230C>T	2.37:g.179659664G>A						TTN_uc010zfh.1_Silent_p.A410A|TTN_uc010zfi.1_Silent_p.A410A|TTN_uc010zfj.1_Silent_p.A410A|TTN_uc002unb.2_Silent_p.A410A|TTN_uc010frg.1_Silent_p.A84A	p.A410A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		7	1454	-			410					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.1230C>T																																																																																					0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		25	44	0	0	0	0	25	44				
TTN	7273	broad.mit.edu	37	2	179665398	179665398	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:179665398G>A	ENST00000591111.1	-	4	531	c.307C>T	c.(307-309)Cca>Tca	p.P103S	TTN_ENST00000359218.5_Missense_Mutation_p.P103S|TTN_ENST00000460472.2_Missense_Mutation_p.P103S|TTN_ENST00000342992.6_Missense_Mutation_p.P103S|TTN_ENST00000360870.5_Missense_Mutation_p.P103S|TTN_ENST00000342175.6_Missense_Mutation_p.P103S|TTN_ENST00000589042.1_Missense_Mutation_p.P103S			Q8WZ42	TITIN_HUMAN	titin	32715					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)			AAGTTGGGTGGTGCTGTCTCA	0.493																																						uc002und.2		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.(307-309)CCA>TCA		Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein.							115.0	95.0	101.0					2																	179665398		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179665398G>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.307C>T	2.37:g.179665398G>A	ENSP00000465570:p.Pro103Ser					TTN_uc010zfg.1_Missense_Mutation_p.P103S|TTN_uc010zfh.1_Missense_Mutation_p.P103S|TTN_uc010zfi.1_Missense_Mutation_p.P103S|TTN_uc010zfj.1_Missense_Mutation_p.P103S|TTN_uc002unb.2_Missense_Mutation_p.P103S	p.P103S			Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		4	532	-			103					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.307C>T		.	.	.	.	.	.	.	.	.	.	G	16.23	3.063615	0.55432	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64	5.95	5.95	0.96441	Immunoglobulin-like fold (1);	.	.	.	.	D	0.84723	0.5535	M	0.70787	2.145	0.49483	D	0.999793	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.993;0.996;0.996;0.996;0.999	D	0.84930	0.0859	9	0.87932	D	0	.	20.3789	0.98926	0.0:0.0:1.0:0.0	.	103;103;103;103;103	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	S	103	ENSP00000343764:P103S;ENSP00000434586:P103S;ENSP00000340554:P103S;ENSP00000352154:P103S;ENSP00000354117:P103S	ENSP00000340554:P103S	P	-	1	0	TTN	179373643	1.000000	0.71417	0.994000	0.49952	0.883000	0.51084	9.869000	0.99810	2.826000	0.97356	0.563000	0.77884	CCA		0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		29	34	0	0	0	0	29	34				
FN1	2335	broad.mit.edu	37	2	216235085	216235085	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:216235085A>G	ENST00000359671.1	-	40	6777	c.6512T>C	c.(6511-6513)aTa>aCa	p.I2171T	FN1_ENST00000432072.2_Missense_Mutation_p.I2052T|FN1_ENST00000336916.4_Missense_Mutation_p.I2140T|FN1_ENST00000446046.1_Missense_Mutation_p.I2115T|FN1_ENST00000346544.3_Missense_Mutation_p.I2051T|FN1_ENST00000357009.2_Intron|FN1_ENST00000421182.1_Missense_Mutation_p.I2025T|FN1_ENST00000345488.5_Intron|FN1_ENST00000357867.4_Missense_Mutation_p.I1961T|FN1_ENST00000443816.1_Missense_Mutation_p.I2050T|FN1_ENST00000354785.4_Missense_Mutation_p.I2262T|FN1_ENST00000356005.4_Missense_Mutation_p.I2081T|FN1_ENST00000323926.6_Missense_Mutation_p.I2231T			P02751	FINC_HUMAN	fibronectin 1	2171	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TGCCTCCACTATGACGTTGTA	0.502																																						uc002vfa.2		NA																	0				central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(6784-6786)ATA>ACA		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						136.0	112.0	120.0					2																	216235085		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216235085A>G		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.6512T>C	2.37:g.216235085A>G	ENSP00000352696:p.Ile2171Thr					FN1_uc002vfb.2_Missense_Mutation_p.I2050T|FN1_uc002vfc.2_Missense_Mutation_p.I2025T|FN1_uc002vfd.2_Missense_Mutation_p.I2206T|FN1_uc002vfe.2_Missense_Mutation_p.I2140T|FN1_uc002vff.2_Missense_Mutation_p.I2115T|FN1_uc002vfg.2_Missense_Mutation_p.I2081T|FN1_uc002vfh.2_Missense_Mutation_p.I1961T|FN1_uc002vfi.2_Missense_Mutation_p.I2231T|FN1_uc002vfj.2_Missense_Mutation_p.I2052T|FN1_uc002vez.2_Missense_Mutation_p.I425T|FN1_uc010zjp.1_Missense_Mutation_p.I799T|FN1_uc002vfk.1_RNA|FN1_uc010fva.1_Intron|FN1_uc010fvb.1_Intron|FN1_uc010fvc.1_Missense_Mutation_p.I504T|FN1_uc010fvd.1_Missense_Mutation_p.I322T	p.I2262T	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	41	7051	-		Renal(323;0.127)	2171			Fibronectin type-III 16.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.6785T>C		.	.	.	.	.	.	.	.	.	.	A	19.98	3.926610	0.73327	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54	5.6	5.6	0.85130	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.147145	0.45361	D	0.000364	T	0.65923	0.2738	L	0.59436	1.845	0.80722	D	1	D;D;P;B;P;D;D;D;D;D;D;D;D	0.69078	0.987;0.981;0.873;0.088;0.873;0.99;0.987;0.968;0.992;0.981;0.99;0.997;0.994	D;D;P;B;P;D;D;P;D;D;D;D;D	0.83275	0.96;0.987;0.599;0.126;0.599;0.987;0.932;0.852;0.992;0.987;0.987;0.996;0.96	T	0.61466	-0.7057	10	0.08837	T	0.75	.	15.7872	0.78315	1.0:0.0:0.0:0.0	.	1931;2051;2052;2231;1961;2081;2115;2140;2172;2025;2050;2262;2171	Q68CX6;F8W7G7;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	T	2025;2231;2140;1961;2262;2172;2171;2051;2115;2050;2052;2081;888	ENSP00000394423:I2025T;ENSP00000323534:I2231T;ENSP00000338200:I2140T;ENSP00000350534:I1961T;ENSP00000346839:I2262T;ENSP00000352696:I2171T;ENSP00000265312:I2051T;ENSP00000410422:I2115T;ENSP00000415018:I2050T;ENSP00000399538:I2052T;ENSP00000348285:I2081T;ENSP00000416139:I888T	ENSP00000265313:I2172T	I	-	2	0	FN1	215943330	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.339000	0.96797	2.131000	0.65755	0.379000	0.24179	ATA		0.502	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		12	30	0	0	0	0	12	30				
INHA	3623	broad.mit.edu	37	2	220437168	220437168	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:220437168G>A	ENST00000243786.2	+	1	252	c.72G>A	c.(70-72)ctG>ctA	p.L24L	OBSL1_ENST00000373873.4_5'Flank|OBSL1_ENST00000289656.3_5'Flank|OBSL1_ENST00000603926.1_5'Flank|OBSL1_ENST00000373876.1_5'Flank|OBSL1_ENST00000404537.1_5'Flank|OBSL1_ENST00000265318.4_5'Flank|INHA_ENST00000489456.1_Intron|OBSL1_ENST00000491370.1_5'Flank	NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	24					cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|erythrocyte differentiation (GO:0030218)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|ovarian follicle development (GO:0001541)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|regulation of cell cycle (GO:0051726)|regulation of cell proliferation (GO:0042127)|response to external stimulus (GO:0009605)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|inhibin A complex (GO:0043512)|inhibin-betaglycan-ActRII complex (GO:0034673)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|receptor binding (GO:0005102)			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGCTGGAGCTGGCCCGGGAAC	0.662											OREG0003991	type=REGULATORY REGION|Gene=BC045558|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc002vmk.1		NA																	0				ovary(1)	1						c.(70-72)CTG>CTA		inhibin alpha subunit precursor							41.0	43.0	42.0					2																	220437168		2203	4300	6503	SO:0001819	synonymous_variant	3623				cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity	g.chr2:220437168G>A		CCDS2444.1	2q35	2013-09-19			ENSG00000123999	ENSG00000123999			6065	protein-coding gene	gene with protein product		147380				3345731	Standard	NM_002191		Approved		uc002vmk.2	P05111	OTTHUMG00000059237	ENST00000243786.2:c.72G>A	2.37:g.220437168G>A			OREG0003991	type=REGULATORY REGION|Gene=BC045558|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	2266	OBSL1_uc010fwk.2_5'Flank|OBSL1_uc002vmi.2_5'Flank|OBSL1_uc002vmj.2_5'Flank	p.L24L	NM_002191	NP_002182	P05111	INHA_HUMAN		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	1	216	+		Renal(207;0.0183)	24					A8K8H5	Silent	SNP	ENST00000243786.2	37	c.72G>A	CCDS2444.1																																																																																				0.662	INHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131425.1			21	20	0	0	0	0	21	20				
CUL3	8452	broad.mit.edu	37	2	225365205	225365205	+	Splice_Site	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:225365205C>A	ENST00000264414.4	-	11	1824		c.e11-1		CUL3_ENST00000409777.1_Splice_Site|CUL3_ENST00000344951.4_Splice_Site|CUL3_ENST00000409096.1_Splice_Site	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3						cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CTAAAGATACCTATGTAAAAC	0.428																																						uc002vny.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4						c.e11-1		cullin 3							141.0	128.0	133.0					2																	225365205		2203	4300	6503	SO:0001630	splice_region_variant	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225365205C>A	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.1486-1G>T	2.37:g.225365205C>A						CUL3_uc010zls.1_Splice_Site_p.V430_splice|CUL3_uc010fwy.1_Splice_Site_p.V502_splice|CUL3_uc002vnz.1_Splice_Site	p.V496_splice	NM_003590	NP_003581	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	11	1870	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)						A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Splice_Site	SNP	ENST00000264414.4	37	c.1486_splice	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.346545	0.82022	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CUL3	225073449	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.459000	0.80802	2.854000	0.98071	0.655000	0.94253	.		0.428	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2		Intron	17	57	1	0	1.63e-17	2.31e-17	17	57				
COL4A4	1286	broad.mit.edu	37	2	227924319	227924319	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:227924319C>A	ENST00000396625.3	-	28	2392	c.2185G>T	c.(2185-2187)Gat>Tat	p.D729Y	COL4A4_ENST00000329662.7_Missense_Mutation_p.D729Y	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	729	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AAACCCGGATCTCCCATGTCA	0.453																																						uc010zlt.1		NA																	0				ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(2185-2187)GAT>TAT		alpha 4 type IV collagen precursor							50.0	53.0	52.0					2																	227924319		1826	4074	5900	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227924319C>A		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.2185G>T	2.37:g.227924319C>A	ENSP00000379866:p.Asp729Tyr						p.D729Y	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	28	2839	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	729			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.2185G>T	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.334122	0.60853	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.97161	-3.26;-4.27	5.89	5.89	0.94794	.	.	.	.	.	D	0.97213	0.9089	L	0.39326	1.205	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.95539	0.8610	9	0.17832	T	0.49	.	18.0307	0.89283	0.0:1.0:0.0:0.0	.	729	P53420	CO4A4_HUMAN	Y	729	ENSP00000379866:D729Y;ENSP00000328553:D729Y	ENSP00000328553:D729Y	D	-	1	0	COL4A4	227632563	1.000000	0.71417	1.000000	0.80357	0.351000	0.29236	5.408000	0.66368	2.783000	0.95769	0.655000	0.94253	GAT		0.453	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		23	71	1	0	0.000229342	0.000252769	23	71				
CAPN10	11132	broad.mit.edu	37	2	241530316	241530316	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr2:241530316G>T	ENST00000391984.2	+	3	554	c.358G>T	c.(358-360)Gtg>Ttg	p.V120L	CAPN10_ENST00000391982.2_Missense_Mutation_p.V120L|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000354082.4_Missense_Mutation_p.V120L|CAPN10_ENST00000404753.3_Missense_Mutation_p.V120L|CAPN10_ENST00000270364.7_Intron	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	120	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		TGGACGCTGGGTGGAGGTGAC	0.617																																						uc002vzk.1		NA																	0				ovary(3)|large_intestine(2)|lung(1)	6						c.(358-360)GTG>TTG		calpain 10 isoform a							84.0	76.0	78.0					2																	241530316		2203	4300	6503	SO:0001583	missense	11132				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	g.chr2:241530316G>T	AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.358G>T	2.37:g.241530316G>T	ENSP00000375844:p.Val120Leu					CAPN10_uc010zoh.1_Missense_Mutation_p.V120L|CAPN10_uc002vzl.1_Missense_Mutation_p.V120L|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_5'UTR|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_RNA|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Intron	p.V120L	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)	3	542	+		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	120			Calpain catalytic.		A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Missense_Mutation	SNP	ENST00000391984.2	37	c.358G>T	CCDS42838.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961254	0.74016	.	.	ENSG00000142330	ENST00000391984;ENST00000391982;ENST00000404753;ENST00000354082	D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63	4.79	1.9	0.25705	Peptidase C2, calpain, catalytic domain (3);	0.392125	0.25704	N	0.028857	D	0.88760	0.6524	M	0.72576	2.205	0.33736	D	0.618877	P;P;P	0.44776	0.566;0.843;0.664	B;B;P	0.45712	0.438;0.384;0.491	D	0.87189	0.2233	10	0.39692	T	0.17	.	5.8095	0.18457	0.1852:0.1625:0.6523:0.0	.	120;120;120	B7Z6G3;Q9HC96-3;Q9HC96	.;.;CAN10_HUMAN	L	120	ENSP00000375844:V120L;ENSP00000375842:V120L;ENSP00000384422:V120L;ENSP00000270362:V120L	ENSP00000270361:V120L	V	+	1	0	CAPN10	241178989	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	2.098000	0.41757	0.407000	0.25591	0.655000	0.94253	GTG		0.617	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257191.3	NM_023083		12	36	1	0	2.81e-09	3.58e-09	12	36				
SNPH	9751	broad.mit.edu	37	20	1285749	1285749	+	Missense_Mutation	SNP	C	C	T	rs144660706		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr20:1285749C>T	ENST00000381873.3	+	6	772	c.536C>T	c.(535-537)aCg>aTg	p.T179M	SNPH_ENST00000381867.1_Missense_Mutation_p.T223M	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	179					brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081)	cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)	syntaxin-1 binding (GO:0017075)			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AAGCTGGAGACGCTGCTGCAC	0.587																																						uc002wes.2		NA																	0				ovary(2)	2						c.(535-537)ACG>ATG		syntaphilin		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	102.0	80.0	87.0		536	4.9	1.0	20	dbSNP_134	87	0,8600		0,0,4300	no	missense	SNPH	NM_014723.2	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	179/495	1285749	1,13005	2203	4300	6503	SO:0001583	missense	9751				synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding	g.chr20:1285749C>T		CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298			15931	protein-coding gene	gene with protein product		604942				10707983	Standard	NM_014723		Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381873.3:c.536C>T	20.37:g.1285749C>T	ENSP00000371297:p.Thr179Met					SNPH_uc002wet.2_Missense_Mutation_p.T223M	p.T179M	NM_014723	NP_055538	O15079	SNPH_HUMAN			6	772	+			179					Q8IYI3	Missense_Mutation	SNP	ENST00000381873.3	37	c.536C>T	CCDS13012.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663313	0.67700	2.27E-4	0.0	ENSG00000101298	ENST00000381873;ENST00000381867	T;T	0.78481	-1.18;-1.18	4.89	4.89	0.63831	.	0.254865	0.32785	N	0.005642	D	0.83631	0.5296	L	0.40543	1.245	0.37236	D	0.905893	D;D	0.89917	1.0;1.0	D;D	0.69824	0.966;0.966	D	0.87132	0.2197	10	0.87932	D	0	-13.9321	17.8388	0.88709	0.0:1.0:0.0:0.0	.	223;179	O15079-2;O15079	.;SNPH_HUMAN	M	179;223	ENSP00000371297:T179M;ENSP00000371291:T223M	ENSP00000371291:T223M	T	+	2	0	SNPH	1233749	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	4.757000	0.62213	2.548000	0.85928	0.655000	0.94253	ACG		0.587	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145240.2	NM_014723		11	30	0	0	0	0	11	30				
MACROD2	140733	broad.mit.edu	37	20	14066362	14066362	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr20:14066362A>G	ENST00000310348.4	+	3	259	c.259A>G	c.(259-261)Ata>Gta	p.I87V	MACROD2_ENST00000217246.4_Missense_Mutation_p.I87V			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	87	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GGTAGATGCTATAGTCAATGC	0.313																																						uc002wou.2		NA																	0					0						c.(259-261)ATA>GTA		MACRO domain containing 2 isoform 1							84.0	79.0	81.0					20																	14066362		1829	4080	5909	SO:0001583	missense	140733							g.chr20:14066362A>G	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.259A>G	20.37:g.14066362A>G	ENSP00000309809:p.Ile87Val					MACROD2_uc002wot.2_Missense_Mutation_p.I87V	p.I87V	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN			3	523	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	87			Macro.		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	c.259A>G	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	A	20.2	3.954354	0.73902	.	.	ENSG00000172264	ENST00000217246;ENST00000310348	T;T	0.36157	1.27;1.27	5.97	5.97	0.96955	Appr-1-p processing (2);	0.060193	0.64402	N	0.000009	T	0.52693	0.1750	L	0.58354	1.805	0.80722	D	1	P;P	0.47034	0.889;0.81	P;P	0.58331	0.837;0.693	T	0.50516	-0.8819	10	0.49607	T	0.09	-10.5501	14.4055	0.67079	1.0:0.0:0.0:0.0	.	87;87	A1Z1Q3;A1Z1Q3-2	MACD2_HUMAN;.	V	87	ENSP00000217246:I87V;ENSP00000309809:I87V	ENSP00000217246:I87V	I	+	1	0	MACROD2	14014362	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.199000	0.72112	2.285000	0.76669	0.477000	0.44152	ATA		0.313	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		6	25	0	0	0	0	6	25				
RRBP1	6238	broad.mit.edu	37	20	17600950	17600950	+	Silent	SNP	C	C	T	rs138279227	byFrequency	TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr20:17600950C>T	ENST00000377813.1	-	18	3876	c.3573G>A	c.(3571-3573)tcG>tcA	p.S1191S	RRBP1_ENST00000246043.4_Silent_p.S1191S|RRBP1_ENST00000470422.1_5'UTR|RRBP1_ENST00000360807.4_Silent_p.S758S|RRBP1_ENST00000377807.2_Silent_p.S758S|RRBP1_ENST00000455029.2_Silent_p.S532S			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1191					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)	p.S1191S(1)|p.S758S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						ATACCTGGTCCGAACTTTCAA	0.488													c|||	3	0.000599042	0.0023	0.0	5008	,	,		19860	0.0		0.0	False		,,,				2504	0.0					uc002wpv.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(2272-2274)TCG>TCA		ribosome binding protein 1		G	,	3,4403	6.2+/-15.9	0,3,2200	163.0	157.0	159.0		2274,2274	-5.8	0.8	20	dbSNP_134	159	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RRBP1	NM_001042576.1,NM_004587.2	,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,	758/978,758/978	17600950	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	6238				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	g.chr20:17600950C>T	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.3573G>A	20.37:g.17600950C>T						RRBP1_uc010zrp.1_5'Flank|RRBP1_uc002wpt.1_Silent_p.S128S|RRBP1_uc002wpu.2_Silent_p.S532S|RRBP1_uc002wpw.1_Silent_p.S758S|RRBP1_uc010gcl.1_Silent_p.S532S|RRBP1_uc010gcm.1_3'UTR	p.S758S	NM_001042576	NP_001036041	Q9P2E9	RRBP1_HUMAN			19	2628	-			1191			Cytoplasmic (Potential).		A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Silent	SNP	ENST00000377813.1	37	c.2274G>A																																																																																					0.488	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		27	85	0	0	0	0	27	85				
PAX1	5075	broad.mit.edu	37	20	21687085	21687085	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr20:21687085A>G	ENST00000398485.2	+	2	350	c.296A>G	c.(295-297)tAt>tGt	p.Y99C	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Missense_Mutation_p.Y75C	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	99	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GAGCAGACGTATGGCGAGGTG	0.672																																						uc002wsj.2		NA																	0				upper_aerodigestive_tract(1)|kidney(1)	2						c.(295-297)TAT>TGT		paired box 1							35.0	40.0	38.0					20																	21687085		2203	4297	6500	SO:0001583	missense	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21687085A>G		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.296A>G	20.37:g.21687085A>G	ENSP00000381499:p.Tyr99Cys					PAX1_uc010zsl.1_Missense_Mutation_p.Y99C|PAX1_uc010zsm.1_Missense_Mutation_p.Y75C	p.Y99C	NM_006192	NP_006183	P15863	PAX1_HUMAN			2	350	+			99			Paired.		B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	ENST00000398485.2	37	c.296A>G	CCDS13146.2	.	.	.	.	.	.	.	.	.	.	A	16.03	3.007750	0.54361	.	.	ENSG00000125813	ENST00000398485;ENST00000444366	D;D	0.99376	-5.79;-5.79	5.14	5.14	0.70334	Paired box protein, N-terminal (3);Homeodomain-like (1);	0.196313	0.45867	D	0.000340	D	0.98311	0.9440	N	0.08118	0	0.58432	D	0.999999	P;D;D	0.89917	0.86;1.0;1.0	B;D;D	0.87578	0.43;0.981;0.998	D	0.99933	1.1338	10	0.72032	D	0.01	.	14.6373	0.68699	1.0:0.0:0.0:0.0	.	75;5;99	P15863-2;C9J775;P15863	.;.;PAX1_HUMAN	C	99;75	ENSP00000381499:Y99C;ENSP00000410355:Y75C	ENSP00000381499:Y99C	Y	+	2	0	PAX1	21635085	1.000000	0.71417	0.880000	0.34516	0.436000	0.31835	2.270000	0.43355	1.930000	0.55929	0.533000	0.62120	TAT		0.672	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			12	34	0	0	0	0	12	34				
TRPC4AP	26133	broad.mit.edu	37	20	33609096	33609096	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr20:33609096C>T	ENST00000252015.2	-	9	1204	c.1115G>A	c.(1114-1116)aGa>aAa	p.R372K	TRPC4AP_ENST00000539834.1_Intron|TRPC4AP_ENST00000432634.2_Missense_Mutation_p.R333K|TRPC4AP_ENST00000451813.2_Missense_Mutation_p.R364K			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	372	Interaction with TNFRSF1A. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CAGCTGGGTTCTGGCTGACGT	0.552																																						uc002xbk.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1114-1116)AGA>AAA		TRPC4-associated protein isoform a							110.0	91.0	97.0					20																	33609096		2203	4300	6503	SO:0001583	missense	26133				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding	g.chr20:33609096C>T	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.1115G>A	20.37:g.33609096C>T	ENSP00000252015:p.Arg372Lys					TRPC4AP_uc010zuq.1_Intron|TRPC4AP_uc002xbl.2_Missense_Mutation_p.R364K|TRPC4AP_uc010zur.1_Missense_Mutation_p.R333K|TRPC4AP_uc002xbm.1_Missense_Mutation_p.R372K	p.R372K	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		9	1149	-			372			Interaction with TNFRSF1A (By similarity).		E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	37	c.1115G>A	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743580	0.69418	.	.	ENSG00000100991	ENST00000252015;ENST00000451813;ENST00000432634;ENST00000541994	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.59595	0.2205	L	0.51422	1.61	0.80722	D	1	P;P;P	0.47762	0.779;0.9;0.9	B;B;B	0.44224	0.262;0.344;0.444	T	0.62234	-0.6897	9	0.54805	T	0.06	.	19.8636	0.96797	0.0:1.0:0.0:0.0	.	333;364;372	B4E0Q1;E1P5Q0;Q8TEL6	.;.;TP4AP_HUMAN	K	372;364;333;357	.	ENSP00000252015:R372K	R	-	2	0	TRPC4AP	33072757	1.000000	0.71417	0.991000	0.47740	0.787000	0.44495	7.295000	0.78780	2.694000	0.91930	0.655000	0.94253	AGA		0.552	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		13	31	0	0	0	0	13	31				
TGM2	7052	broad.mit.edu	37	20	36776383	36776383	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr20:36776383C>A	ENST00000361475.2	-	5	834	c.661G>T	c.(661-663)Ggc>Tgc	p.G221C	TGM2_ENST00000536701.1_Missense_Mutation_p.G140C|TGM2_ENST00000536724.1_Missense_Mutation_p.G161C	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	221					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	ACCACCCGGCCCACGTAGACG	0.652																																						uc002xhr.2		NA																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(661-663)GGC>TGC		transglutaminase 2 isoform a	L-Glutamine(DB00130)						23.0	23.0	23.0					20																	36776383		2202	4299	6501	SO:0001583	missense	7052				apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:36776383C>A	M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"""Transglutaminases"""	11778	protein-coding gene	gene with protein product	"""C polypeptide, protein-glutamine-gamma-glutamyltransferase"""	190196	"""transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.661G>T	20.37:g.36776383C>A	ENSP00000355330:p.Gly221Cys					TGM2_uc010zvx.1_Missense_Mutation_p.G140C|TGM2_uc010zvy.1_Missense_Mutation_p.G161C|TGM2_uc002xhs.1_Missense_Mutation_p.G197C|TGM2_uc002xht.2_Missense_Mutation_p.G221C|TGM2_uc002xhu.3_Missense_Mutation_p.G221C	p.G221C	NM_004613	NP_004604	P21980	TGM2_HUMAN			5	761	-		Myeloproliferative disorder(115;0.00878)	221					E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Missense_Mutation	SNP	ENST00000361475.2	37	c.661G>T	CCDS13302.1	.	.	.	.	.	.	.	.	.	.	C	9.811	1.183184	0.21870	.	.	ENSG00000198959	ENST00000361475;ENST00000536701;ENST00000536724;ENST00000373403	D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56	4.78	2.7	0.31948	.	0.586383	0.18983	N	0.125815	T	0.79701	0.4491	N	0.20357	0.565	0.39196	D	0.963053	D;D;D;D;D;D	0.76494	0.994;0.998;0.999;0.994;0.99;0.992	P;D;D;P;P;P	0.65010	0.905;0.918;0.931;0.862;0.806;0.905	T	0.74979	-0.3479	10	0.23302	T	0.38	-6.5149	7.6072	0.28110	0.0:0.7147:0.0:0.2853	.	161;140;221;221;161;221	F5H6P0;B4DIT7;P21980-3;P21980-2;B4DTN7;P21980	.;.;.;.;.;TGM2_HUMAN	C	221;140;161;221	ENSP00000355330:G221C;ENSP00000444701:G140C;ENSP00000437479:G161C;ENSP00000362502:G221C	ENSP00000355330:G221C	G	-	1	0	TGM2	36209797	0.979000	0.34478	0.995000	0.50966	0.082000	0.17680	1.056000	0.30480	1.232000	0.43678	0.462000	0.41574	GGC		0.652	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2	NM_198951		7	10	1	0	0.000442599	0.000481981	7	10				
GDAP1L1	78997	broad.mit.edu	37	20	42885797	42885797	+	Missense_Mutation	SNP	G	G	T	rs375408909		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr20:42885797G>T	ENST00000342560.5	+	2	273	c.185G>T	c.(184-186)cGg>cTg	p.R62L	GDAP1L1_ENST00000372952.3_Missense_Mutation_p.R62L|GDAP1L1_ENST00000537864.1_Intron	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	62	GST N-terminal.									endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CTGCAGGTGCGGCTGGTGATC	0.706																																						uc002xlq.2		NA																	0				large_intestine(1)	1						c.(184-186)CGG>CTG		ganglioside-induced differentiation-associated							26.0	19.0	22.0					20																	42885797		2199	4294	6493	SO:0001583	missense	78997							g.chr20:42885797G>T		CCDS13328.1, CCDS74725.1, CCDS74726.1, CCDS74727.1	20q12	2012-02-09	2012-02-09		ENSG00000124194	ENSG00000124194			4213	protein-coding gene	gene with protein product							Standard	NM_024034		Approved		uc010zwl.3	Q96MZ0	OTTHUMG00000032530	ENST00000342560.5:c.185G>T	20.37:g.42885797G>T	ENSP00000341782:p.Arg62Leu					GDAP1L1_uc002xlp.1_Missense_Mutation_p.R62L|GDAP1L1_uc010zwl.1_Missense_Mutation_p.R62L|GDAP1L1_uc010zwm.1_Missense_Mutation_p.R62L|GDAP1L1_uc010zwn.1_Intron	p.R62L	NM_024034	NP_076939	Q96MZ0	GD1L1_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	252	+		Myeloproliferative disorder(115;0.0122)	62			GST N-terminal.		B7Z621|Q5TE60|Q68CW7|Q9BQJ7|Q9BQV4|Q9BWJ4|Q9H3Y2|Q9H4G5	Missense_Mutation	SNP	ENST00000342560.5	37	c.185G>T	CCDS13328.1	.	.	.	.	.	.	.	.	.	.	G	32	5.171109	0.94807	.	.	ENSG00000124194	ENST00000342560;ENST00000372947;ENST00000372946;ENST00000545149;ENST00000438466;ENST00000372952	T;T;T	0.34667	1.35;1.35;1.35	5.55	5.55	0.83447	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.113353	0.64402	D	0.000008	T	0.59998	0.2235	M	0.69185	2.1	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	D;D;D;D	0.91635	0.995;0.999;0.999;0.999	T	0.52049	-0.8627	10	0.33940	T	0.23	.	19.3061	0.94163	0.0:0.0:1.0:0.0	.	62;62;62;8	B7Z1I3;B7Z621;Q96MZ0;Q5JY50	.;.;GD1L1_HUMAN;.	L	62;60;62;31;62;62	ENSP00000341782:R62L;ENSP00000392881:R62L;ENSP00000362043:R62L	ENSP00000341782:R62L	R	+	2	0	GDAP1L1	42319211	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.229000	0.95273	2.894000	0.99253	0.655000	0.94253	CGG		0.706	GDAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079356.1	NM_024034		10	3	1	0	0.000442599	0.000481981	10	3				
CBLN4	140689	broad.mit.edu	37	20	54575848	54575848	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr20:54575848C>G	ENST00000064571.2	-	2	1647	c.347G>C	c.(346-348)aGa>aCa	p.R116T		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	116	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein secretion (GO:0009306)	cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			AATTCCTTTTCTTGGTGCTAC	0.333																																						uc002xxa.2		NA																	0				ovary(3)|pancreas(1)	4						c.(346-348)AGA>ACA		cerebellin 4 precursor							131.0	134.0	133.0					20																	54575848		2203	4300	6503	SO:0001583	missense	140689					cell junction|extracellular region|synapse		g.chr20:54575848C>G	AY358527	CCDS13448.1	20q13	2004-08-19	2004-08-19	2004-08-19	ENSG00000054803	ENSG00000054803			16231	protein-coding gene	gene with protein product		615029	"""cerebellin precursor-like 1"""	CBLNL1			Standard	NM_080617		Approved	dJ885A10.1	uc002xxa.4	Q9NTU7	OTTHUMG00000032782	ENST00000064571.2:c.347G>C	20.37:g.54575848C>G	ENSP00000064571:p.Arg116Thr						p.R116T	NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	Colorectal(105;0.202)		2	1132	-			116			C1q.		A8K0S5	Missense_Mutation	SNP	ENST00000064571.2	37	c.347G>C	CCDS13448.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935777	0.92458	.	.	ENSG00000054803	ENST00000064571	T	0.74421	-0.84	5.53	5.53	0.82687	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	D	0.82641	0.5081	L	0.52266	1.64	0.80722	D	1	D	0.60160	0.987	P	0.62885	0.908	T	0.82808	-0.0274	10	0.54805	T	0.06	-18.0074	19.4565	0.94892	0.0:1.0:0.0:0.0	.	116	Q9NTU7	CBLN4_HUMAN	T	116	ENSP00000064571:R116T	ENSP00000064571:R116T	R	-	2	0	CBLN4	54009255	1.000000	0.71417	0.992000	0.48379	0.958000	0.62258	7.433000	0.80362	2.613000	0.88420	0.455000	0.32223	AGA		0.333	CBLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079783.2	NM_080617		22	63	0	0	0	0	22	63				
ZNF831	128611	broad.mit.edu	37	20	57781960	57781960	+	Splice_Site	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr20:57781960G>C	ENST00000371030.2	+	3	3876	c.3876G>C	c.(3874-3876)agG>agC	p.R1292S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1292							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCTTCTACAGGTACAAAGGGA	0.547																																						uc002yan.2		NA																	0				skin(13)|ovary(1)	14						c.(3874-3876)AGG>AGC		zinc finger protein 831							161.0	158.0	159.0					20																	57781960		1945	4134	6079	SO:0001630	splice_region_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57781960G>C	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3876-1G>C	20.37:g.57781960G>C							p.R1292S	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			3	3876	+	all_lung(29;0.0085)		1292					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.3876G>C	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156514	0.57259	.	.	ENSG00000124203	ENST00000371030	T	0.19938	2.11	5.43	5.43	0.79202	.	0.084385	0.51477	D	0.000092	T	0.40297	0.1111	L	0.52573	1.65	0.40964	D	0.984646	D	0.89917	1.0	D	0.83275	0.996	T	0.07616	-1.0763	9	.	.	.	.	14.7378	0.69430	0.0:0.0:1.0:0.0	.	1292	Q5JPB2	ZN831_HUMAN	S	1292	ENSP00000360069:R1292S	.	R	+	3	2	ZNF831	57215355	0.998000	0.40836	0.987000	0.45799	0.155000	0.21991	2.610000	0.46325	2.536000	0.85505	0.650000	0.86243	AGG		0.547	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457	Missense_Mutation	63	214	0	0	0	0	63	214				
MIS18A	54069	broad.mit.edu	37	21	33647184	33647184	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr21:33647184C>G	ENST00000290130.3	-	2	412	c.358G>C	c.(358-360)Gat>Cat	p.D120H	MIS18A-AS1_ENST00000453549.1_RNA	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN	MIS18 kinetochore protein A	120					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of DNA methylation (GO:0044030)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						TGTTCCTTATCCACAGAAACA	0.303																																						uc002ypi.2		NA																	0					0						c.(358-360)GAT>CAT		chromosome 21 open reading frame 45							87.0	84.0	85.0					21																	33647184		2202	4300	6502	SO:0001583	missense	54069				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm		g.chr21:33647184C>G	AF231921	CCDS13611.1	21q22.11	2013-10-21	2013-10-21	2011-02-23	ENSG00000159055	ENSG00000159055			1286	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 46"", ""chromosome 21 open reading frame 45"", ""MIS18 kinetochore protein homolog A (S. pombe)"""	C21orf46, C21orf45		17199038	Standard	NM_018944		Approved	B28, FASP1, hMis18alpha	uc002ypi.3	Q9NYP9	OTTHUMG00000085308	ENST00000290130.3:c.358G>C	21.37:g.33647184C>G	ENSP00000290130:p.Asp120His					C21orf45_uc011adn.1_Missense_Mutation_p.D120H	p.D120H	NM_018944	NP_061817	Q9NYP9	MS18A_HUMAN			2	409	-			120					B2R562|Q542Z0	Missense_Mutation	SNP	ENST00000290130.3	37	c.358G>C	CCDS13611.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.243379	0.58995	.	.	ENSG00000159055	ENST00000290130	.	.	.	5.83	3.08	0.35506	.	0.268686	0.36444	N	0.002596	T	0.64000	0.2559	M	0.61703	1.905	0.35025	D	0.758237	D	0.89917	1.0	D	0.67231	0.95	T	0.70019	-0.4987	9	0.51188	T	0.08	-15.406	8.7294	0.34489	0.0:0.7636:0.0:0.2364	.	120	Q9NYP9	MS18A_HUMAN	H	120	.	ENSP00000290130:D120H	D	-	1	0	MIS18A	32569055	1.000000	0.71417	0.975000	0.42487	0.992000	0.81027	1.779000	0.38624	0.401000	0.25424	0.655000	0.94253	GAT		0.303	MIS18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193090.1	NM_018944		17	4	0	0	0	0	17	4				
PDE9A	5152	broad.mit.edu	37	21	44195393	44195393	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr21:44195393A>G	ENST00000291539.6	+	20	1832	c.1772A>G	c.(1771-1773)gAc>gGc	p.D591G	PDE9A_ENST00000398229.3_Missense_Mutation_p.D457G|PDE9A_ENST00000328862.6_Missense_Mutation_p.D565G|PDE9A_ENST00000398227.3_Missense_Mutation_p.D431G|PDE9A_ENST00000349112.3_Missense_Mutation_p.D463G|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000380328.2_Missense_Mutation_p.D538G|PDE9A_ENST00000335512.4_Missense_Mutation_p.D531G|PDE9A_ENST00000398232.3_Missense_Mutation_p.D524G|PDE9A_ENST00000539837.1_Missense_Mutation_p.D463G|PDE9A_ENST00000398225.3_Missense_Mutation_p.D550G|PDE9A_ENST00000398236.3_Missense_Mutation_p.D505G|PDE9A_ENST00000398234.3_Missense_Mutation_p.D490G|PDE9A_ENST00000398224.3_Missense_Mutation_p.D464G|PDE9A_ENST00000335440.6_Missense_Mutation_p.D489G	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	591					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	CTTCCAGGAGACTGTGCCTGA	0.587																																						uc002zbm.2		NA																	0				ovary(1)|skin(1)	2						c.(1771-1773)GAC>GGC		phosphodiesterase 9A isoform a							66.0	67.0	67.0					21																	44195393		2203	4300	6503	SO:0001583	missense	5152				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding	g.chr21:44195393A>G	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.1772A>G	21.37:g.44195393A>G	ENSP00000291539:p.Asp591Gly					PDE9A_uc002zbn.2_Missense_Mutation_p.D464G|PDE9A_uc002zbo.2_Missense_Mutation_p.D538G|PDE9A_uc002zbp.2_Missense_Mutation_p.D384G|PDE9A_uc002zbq.2_Missense_Mutation_p.D489G|PDE9A_uc002zbs.2_Missense_Mutation_p.D384G|PDE9A_uc002zbr.2_Missense_Mutation_p.D384G|PDE9A_uc002zbt.2_Missense_Mutation_p.D463G|PDE9A_uc002zbu.2_Missense_Mutation_p.D457G|PDE9A_uc002zbv.2_Missense_Mutation_p.D431G|PDE9A_uc002zbw.2_Missense_Mutation_p.D374G|PDE9A_uc002zbx.2_Missense_Mutation_p.D531G|PDE9A_uc002zby.2_Missense_Mutation_p.D374G|PDE9A_uc002zbz.2_Missense_Mutation_p.D483G|PDE9A_uc002zca.2_Missense_Mutation_p.D550G|PDE9A_uc002zcb.2_Missense_Mutation_p.D565G|PDE9A_uc002zcc.2_Missense_Mutation_p.D490G|PDE9A_uc002zcd.2_Missense_Mutation_p.D505G|PDE9A_uc002zce.2_Missense_Mutation_p.D524G|PDE9A_uc002zcf.2_Missense_Mutation_p.D384G|PDE9A_uc002zcg.2_Missense_Mutation_p.D384G|PDE9A_uc002zch.2_Missense_Mutation_p.D374G	p.D591G	NM_002606	NP_002597	O76083	PDE9A_HUMAN			20	1835	+			591					B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Missense_Mutation	SNP	ENST00000291539.6	37	c.1772A>G	CCDS13690.1	.	.	.	.	.	.	.	.	.	.	A	7.560	0.664494	0.14710	.	.	ENSG00000160191	ENST00000335512;ENST00000539837;ENST00000291539;ENST00000380328;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000335440;ENST00000398225;ENST00000398229;ENST00000398227;ENST00000349112;ENST00000398224	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70164	-0.35;-0.33;-0.4;-0.37;-0.46;-0.36;-0.35;-0.43;-0.45;-0.41;-0.36;-0.34;-0.35;-0.37	4.63	0.926	0.19430	.	2.920990	0.01189	N	0.007267	T	0.47322	0.1439	N	0.08118	0	0.25366	N	0.988745	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.30914	0.004;0.0;0.002;0.015;0.004;0.002;0.006;0.0;0.0;0.002;0.002;0.002;0.3;0.0;0.002	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.29785	0.009;0.001;0.003;0.015;0.009;0.003;0.009;0.0;0.0;0.003;0.003;0.003;0.107;0.0;0.004	T	0.47573	-0.9107	10	0.72032	D	0.01	.	4.8632	0.13594	0.5167:0.3835:0.0997:0.0	.	524;505;490;565;550;483;531;374;431;457;463;489;538;464;591	O76083-13;O76083-8;O76083-6;O76083-15;O76083-14;O76083-16;O76083-2;O76083-10;O76083-9;O76083-11;O76083-4;O76083-12;O76083-5;O76083-3;O76083	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PDE9A_HUMAN	G	531;463;591;538;524;490;505;565;489;550;457;431;463;464	ENSP00000335242:D531G;ENSP00000441899:D463G;ENSP00000291539:D591G;ENSP00000369685:D538G;ENSP00000381287:D524G;ENSP00000381289:D490G;ENSP00000381291:D505G;ENSP00000328699:D565G;ENSP00000335365:D489G;ENSP00000381281:D550G;ENSP00000381285:D457G;ENSP00000381283:D431G;ENSP00000344730:D463G;ENSP00000381280:D464G	ENSP00000291539:D591G	D	+	2	0	PDE9A	43068462	0.062000	0.20869	0.844000	0.33320	0.004000	0.04260	0.015000	0.13355	0.321000	0.23259	-0.517000	0.04412	GAC		0.587	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1			32	57	0	0	0	0	32	57				
GGTLC2	91227	broad.mit.edu	37	22	22989484	22989484	+	Silent	SNP	G	G	C	rs139520107		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr22:22989484G>C	ENST00000480559.1	+	3	336	c.336G>C	c.(334-336)acG>acC	p.T112T	GGTLC2_ENST00000448514.1_Silent_p.T112T|POM121L1P_ENST00000402027.1_RNA	NM_199127.2	NP_954578.2	Q14390	GGTL2_HUMAN	gamma-glutamyltransferase light chain 2	112					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)	gamma-glutamyltransferase activity (GO:0003840)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		TGTGCCCGACGATCATGGTGG	0.647																																						uc010gtt.2		NA																	0				ovary(1)	1						c.(334-336)ACG>ACC		gamma-glutamyltransferase-like 4 isoform 1							60.0	69.0	66.0					22																	22989484		2203	4299	6502	SO:0001819	synonymous_variant	91227				glutathione biosynthetic process		gamma-glutamyltransferase activity	g.chr22:22989484G>C	X98922	CCDS13802.2	22q11.21	2008-03-25	2008-03-10	2008-03-10	ENSG00000100121	ENSG00000100121		"""Gamma-glutamyltransferases"""	18596	protein-coding gene	gene with protein product		612339	"""gamma-glutamyltransferase-like 4"""	GGTL4		9074928, 18357469	Standard	NM_199127		Approved		uc010gtt.2	Q14390	OTTHUMG00000151177	ENST00000480559.1:c.336G>C	22.37:g.22989484G>C						LOC96610_uc011aim.1_Intron|POM121L1P_uc011ait.1_5'Flank|GGTLC2_uc010gts.2_Silent_p.T112T	p.T112T	NM_199127	NP_954578	Q14390	GGTL2_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	3	370	+	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)	112					A1A516|A2VCM9|Q5NV76|Q6ISH0	Silent	SNP	ENST00000480559.1	37	c.336G>C	CCDS13802.2																																																																																				0.647	GGTLC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321662.1	NM_199127		34	96	0	0	0	0	34	96				
APOBEC3B	9582	broad.mit.edu	37	22	39387522	39387522	+	Silent	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr22:39387522G>C	ENST00000333467.3	+	6	954	c.909G>C	c.(907-909)gtG>gtC	p.V303V	APOBEC3B_ENST00000402182.3_Silent_p.V303V|APOBEC3B-AS1_ENST00000513758.2_RNA|APOBEC3B_ENST00000407298.3_Silent_p.V278V	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	303					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					ACACACACGTGAGACTGCGCA	0.582																																						uc003awo.1		NA																	0				ovary(1)	1						c.(907-909)GTG>GTC		apolipoprotein B mRNA editing enzyme, catalytic							140.0	139.0	139.0					22																	39387522		2199	4283	6482	SO:0001819	synonymous_variant	9582				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding	g.chr22:39387522G>C	AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"""Apolipoprotein B mRNA editing enzymes"""	17352	protein-coding gene	gene with protein product	"""phorbolin 3"""	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.909G>C	22.37:g.39387522G>C						APOBEC3A_uc011aoc.1_Intron|APOBEC3B_uc003awp.1_Silent_p.V278V|APOBEC3B_uc003awq.1_RNA|APOBEC3D_uc011aod.1_Intron|APOBEC3D_uc011aoe.1_Intron|APOBEC3D_uc011aof.1_Intron	p.V303V	NM_004900	NP_004891	Q9UH17	ABC3B_HUMAN			6	963	+	Melanoma(58;0.04)		303					B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Silent	SNP	ENST00000333467.3	37	c.909G>C	CCDS13982.1																																																																																				0.582	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321233.1	NM_004900		25	203	0	0	0	0	25	203				
ATXN10	25814	broad.mit.edu	37	22	46114314	46114314	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr22:46114314C>T	ENST00000252934.5	+	6	934	c.669C>T	c.(667-669)ctC>ctT	p.L223L	ATXN10_ENST00000498009.1_3'UTR|ATXN10_ENST00000381061.4_Silent_p.L159L	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	223					cell death (GO:0008219)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		TTACAGACCTCTTTCTGAAAA	0.418																																						uc003bgm.1		NA																	0				ovary(1)|kidney(1)	2						c.(667-669)CTC>CTT		ataxin 10							121.0	127.0	125.0					22																	46114314		2203	4300	6503	SO:0001819	synonymous_variant	25814				cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm		g.chr22:46114314C>T	AK095309	CCDS14070.1, CCDS54540.1	22q13	2013-02-15	2004-08-12	2004-08-12	ENSG00000130638	ENSG00000130638		"""Ataxins"""	10549	protein-coding gene	gene with protein product		611150	"""spinocerebellar ataxia 10"""	SCA10		9973298	Standard	NM_013236		Approved	E46L, FLJ37990	uc003bgm.2	Q9UBB4	OTTHUMG00000150451	ENST00000252934.5:c.669C>T	22.37:g.46114314C>T						ATXN10_uc011aqt.1_Silent_p.L159L|ATXN10_uc003bgn.1_Silent_p.L34L	p.L223L	NM_013236	NP_037368	Q9UBB4	ATX10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)	6	926	+		Ovarian(80;0.00973)|all_neural(38;0.0417)	223					A6NLC4|B4DG05|O14998|O15009|Q6I9X4	Silent	SNP	ENST00000252934.5	37	c.669C>T	CCDS14070.1																																																																																				0.418	ATXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318142.2	NM_013236		26	115	0	0	0	0	26	115				
ZCWPW2	152098	broad.mit.edu	37	3	28520395	28520395	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:28520395G>T	ENST00000383768.2	+	5	771	c.583G>T	c.(583-585)Gaa>Taa	p.E195*	ZCWPW2_ENST00000421010.1_Nonsense_Mutation_p.E195*			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	195							zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						GCAAAGACTGGAAATGTGCTG	0.299																																						uc003ceh.2		NA																	0				ovary(2)	2						c.(583-585)GAA>TAA		zinc finger, CW type with PWWP domain 2							76.0	79.0	78.0					3																	28520395		2203	4299	6502	SO:0001587	stop_gained	152098						zinc ion binding	g.chr3:28520395G>T	BC065764	CCDS33723.1	3p23	2005-08-22			ENSG00000206559	ENSG00000206559			23574	protein-coding gene	gene with protein product						14607086	Standard	XM_005264892		Approved	ZCW2	uc003cei.3	Q504Y3	OTTHUMG00000155705	ENST00000383768.2:c.583G>T	3.37:g.28520395G>T	ENSP00000373278:p.Glu195*					ZCWPW2_uc003cei.2_Nonsense_Mutation_p.E195*|ZCWPW2_uc010hfo.2_5'UTR	p.E195*	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN			5	751	+			195						Nonsense_Mutation	SNP	ENST00000383768.2	37	c.583G>T	CCDS33723.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.354264|5.354264	0.95830|0.95830	.|.	.|.	ENSG00000206559|ENSG00000206559	ENST00000383768;ENST00000421010|ENST00000419130	.|.	.|.	.|.	4.99|4.99	4.99|4.99	0.66335|0.66335	.|.	0.299857|.	0.28834|.	N|.	0.013986|.	.|T	.|0.65048	.|0.2654	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70414	.|-0.4878	.|3	0.38643|.	T|.	0.18|.	-14.5623|-14.5623	14.1366|14.1366	0.65291|0.65291	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|V	195|79	.|.	ENSP00000373278:E195X|.	E|G	+|+	1|2	0|0	ZCWPW2|ZCWPW2	28495399|28495399	0.976000|0.976000	0.34144|0.34144	1.000000|1.000000	0.80357|0.80357	0.545000|0.545000	0.35147|0.35147	1.529000|1.529000	0.35996|0.35996	2.479000|2.479000	0.83701|0.83701	0.585000|0.585000	0.79938|0.79938	GAA|GGA		0.299	ZCWPW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341318.1	XM_087384		3	29	1	0	0.000602214	0.000651472	3	29				
MLH1	4292	broad.mit.edu	37	3	37048514	37048514	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:37048514C>G	ENST00000231790.2	+	5	629	c.413C>G	c.(412-414)cCt>cGt	p.P138R	MLH1_ENST00000435176.1_Missense_Mutation_p.P40R|MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000492474.1_3'UTR|MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000458205.2_5'UTR	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	138					ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						CTGAAAGCCCCTCCTAAACCA	0.373		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc003cgl.2		1	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	D|Mis|N|F|S	E.coli MutL homolog gene			"""E, O"""		colorectal|endometrial|ovarian|CNS	colorectal|endometrial|ovarian|CNS		1	Whole gene deletion(1)	p.0?(1)	ovary(1)	large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1)	77						c.(412-414)CCT>CGT	MMR	MutL protein homolog 1							76.0	81.0	80.0					3																	37048514		2203	4300	6503	SO:0001583	missense	4292	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37048514C>G	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.413C>G	3.37:g.37048514C>G	ENSP00000231790:p.Pro138Arg					MLH1_uc011aye.1_5'UTR|MLH1_uc011ayb.1_5'UTR|MLH1_uc010hge.2_Missense_Mutation_p.P138R|MLH1_uc003cgn.3_5'UTR|MLH1_uc011ayc.1_Missense_Mutation_p.P40R|MLH1_uc011ayd.1_5'UTR|MLH1_uc003cgo.2_5'UTR	p.P138R	NM_000249	NP_000240	P40692	MLH1_HUMAN			5	473	+			138					B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	ENST00000231790.2	37	c.413C>G	CCDS2663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.016019|4.016019	0.75161|0.75161	.|.	.|.	ENSG00000076242|ENSG00000076242	ENST00000383761;ENST00000456676|ENST00000231790;ENST00000436867;ENST00000537937;ENST00000435176;ENST00000429117	.|D;D;T	.|0.89875	.|-2.58;-2.58;-0.74	6.16|6.16	6.16|6.16	0.99307|0.99307	.|DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87692|0.87692	0.6241|0.6241	L|L	0.43923|0.43923	1.385|1.385	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.17852	.|0.011;0.024;0.024	.|B;B;B	.|0.27715	.|0.015;0.082;0.056	T|T	0.82034|0.82034	-0.0657|-0.0657	6|10	0.08599|0.54805	T|T	0.76|0.06	-13.5496|-13.5496	19.6313|19.6313	0.95704|0.95704	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|40;138;138	.|E9PCU2;Q53GX1;P40692	.|.;.;MLH1_HUMAN	V|R	3;130|138;104;104;40;40	.|ENSP00000231790:P138R;ENSP00000402564:P40R;ENSP00000407019:P40R	ENSP00000373270:L3V|ENSP00000231790:P138R	L|P	+|+	1|2	0|0	MLH1|MLH1	37023518|37023518	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	7.236000|7.236000	0.78154|0.78154	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CTC|CCT		0.373	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		14	19	0	0	0	0	14	19				
SCN11A	11280	broad.mit.edu	37	3	38949584	38949584	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:38949584A>C	ENST00000302328.3	-	10	1527	c.1329T>G	c.(1327-1329)agT>agG	p.S443R	SCN11A_ENST00000456224.3_Missense_Mutation_p.S443R|SCN11A_ENST00000450244.1_Missense_Mutation_p.S443R|SCN11A_ENST00000444237.2_Missense_Mutation_p.S443R|AC116038.1_ENST00000401122.1_RNA	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	443					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAGTAAGTGAACTTCTGTCAA	0.388																																						uc011ays.1		NA																	0				skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(1327-1329)AGT>AGG		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						97.0	103.0	101.0					3																	38949584		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38949584A>C	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.1329T>G	3.37:g.38949584A>C	ENSP00000307599:p.Ser443Arg						p.S443R	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	10	1528	-			443					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.1329T>G	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	A	15.38	2.817794	0.50633	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.96265	-3.96;-3.96;-3.9;-3.81	4.75	-0.797	0.10909	.	1.007470	0.07983	U	0.985992	D	0.92750	0.7695	L	0.58428	1.81	0.24833	N	0.992512	P	0.48911	0.917	B	0.43478	0.421	D	0.85059	0.0933	10	0.21540	T	0.41	.	1.0442	0.01566	0.335:0.1861:0.3223:0.1566	.	443	Q9UI33	SCNBA_HUMAN	R	443	ENSP00000307599:S443R;ENSP00000400945:S443R;ENSP00000416757:S443R;ENSP00000408028:S443R	ENSP00000307599:S443R	S	-	3	2	SCN11A	38924588	0.997000	0.39634	1.000000	0.80357	0.841000	0.47740	0.640000	0.24705	0.198000	0.20407	0.254000	0.18369	AGT		0.388	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		24	31	0	0	0	0	24	31				
RBM6	10180	broad.mit.edu	37	3	50091779	50091779	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:50091779C>T	ENST00000266022.4	+	8	1903	c.1644C>T	c.(1642-1644)aaC>aaT	p.N548N	RBM6_ENST00000442092.1_Silent_p.N26N|RBM6_ENST00000443081.1_Silent_p.N416N|RBM6_ENST00000539992.1_5'UTR|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000422955.1_Silent_p.N26N	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	548					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GTAAGGCAAACATTGGTGGGC	0.383																																						uc003cyc.2		NA																	0				ovary(2)	2						c.(1642-1644)AAC>AAT		RNA binding motif protein 6							198.0	204.0	202.0					3																	50091779		2203	4300	6503	SO:0001819	synonymous_variant	10180				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr3:50091779C>T	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.1644C>T	3.37:g.50091779C>T						RBM6_uc011bdh.1_RNA|RBM6_uc010hlc.1_Silent_p.N67N|RBM6_uc003cyd.2_Silent_p.N26N|RBM6_uc003cye.2_Silent_p.N26N|RBM6_uc011bdi.1_5'UTR|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA	p.N548N	NM_005777	NP_005768	P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	8	1777	+			548					O60549|O75524|Q86SS3	Silent	SNP	ENST00000266022.4	37	c.1644C>T	CCDS2809.1																																																																																				0.383	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		27	116	0	0	0	0	27	116				
GXYLT2	727936	broad.mit.edu	37	3	73016867	73016867	+	Silent	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:73016867G>T	ENST00000389617.4	+	6	1307	c.1146G>T	c.(1144-1146)cgG>cgT	p.R382R		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	382					O-glycan processing (GO:0016266)	integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						AAGCAATACGGGATGTAAGTG	0.483																																						uc003dpg.2		NA																	0					0						c.(1144-1146)CGG>CGT		glycosyltransferase 8 domain containing 4							106.0	101.0	103.0					3																	73016867		2044	4200	6244	SO:0001819	synonymous_variant	727936				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	g.chr3:73016867G>T	AC098481	CCDS46870.1	3p13	2013-02-22	2009-11-17	2009-11-17	ENSG00000172986	ENSG00000172986		"""Glycosyltransferase family 8 domain containing"""	33383	protein-coding gene	gene with protein product		613322	"""glycosyltransferase 8 domain containing 4"""	GLT8D4		19940119	Standard	NM_001080393		Approved		uc003dpg.3	A0PJZ3	OTTHUMG00000158815	ENST00000389617.4:c.1146G>T	3.37:g.73016867G>T							p.R382R	NM_001080393	NP_001073862	A0PJZ3	GXLT2_HUMAN			6	1146	+			382			Lumenal (Potential).			Silent	SNP	ENST00000389617.4	37	c.1146G>T	CCDS46870.1																																																																																				0.483	GXYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352318.1	NM_001080393		3	15	1	0	6.4e-05	7.17e-05	3	15				
PDZRN3	23024	broad.mit.edu	37	3	73433279	73433279	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:73433279T>G	ENST00000263666.4	-	10	2552	c.2438A>C	c.(2437-2439)gAa>gCa	p.E813A	PDZRN3_ENST00000466780.1_Missense_Mutation_p.E470A|PDZRN3_ENST00000535920.1_Missense_Mutation_p.E535A|PDZRN3_ENST00000462146.2_Missense_Mutation_p.E470A|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000479530.1_Missense_Mutation_p.E530A	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	813					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TTCGGGATCTTCCGTGATGGA	0.652																																						uc003dpl.1		NA																	0				pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7						c.(2437-2439)GAA>GCA		PDZ domain containing ring finger 3							56.0	61.0	59.0					3																	73433279		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433279T>G	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2438A>C	3.37:g.73433279T>G	ENSP00000263666:p.Glu813Ala					PDZRN3_uc011bgh.1_Missense_Mutation_p.E470A|PDZRN3_uc010hoe.1_Missense_Mutation_p.E511A|PDZRN3_uc011bgf.1_Missense_Mutation_p.E530A|PDZRN3_uc011bgg.1_Missense_Mutation_p.E533A	p.E813A	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2534	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	813					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.2438A>C	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	T	2.036	-0.421215	0.04734	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530	T;T;T;T;T	0.09817	2.94;3.64;3.53;3.53;3.64	5.11	5.11	0.69529	.	3.447060	0.00644	N	0.000533	T	0.17066	0.0410	L	0.57536	1.79	0.42253	D	0.991985	B;B;B;B	0.31581	0.012;0.329;0.007;0.329	B;B;B;B	0.27887	0.027;0.084;0.005;0.084	T	0.35624	-0.9781	10	0.21540	T	0.41	.	14.5819	0.68298	0.0:0.0:0.0:1.0	.	535;530;530;813	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	A	813;535;470;470;530	ENSP00000263666:E813A;ENSP00000442026:E535A;ENSP00000418168:E470A;ENSP00000418484:E470A;ENSP00000418624:E530A	ENSP00000263666:E813A	E	-	2	0	PDZRN3	73515969	1.000000	0.71417	0.974000	0.42286	0.052000	0.14988	3.315000	0.51951	1.921000	0.55644	0.533000	0.62120	GAA		0.652	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		17	49	0	0	0	0	17	49				
CNTN3	5067	broad.mit.edu	37	3	74411124	74411124	+	Silent	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:74411124G>T	ENST00000263665.6	-	10	1308	c.1281C>A	c.(1279-1281)gtC>gtA	p.V427V		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	427	Ig-like C2-type 5.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AATCCAAGCTGACCAGGCTGC	0.502																																						uc003dpm.1		NA																	0				breast(3)|ovary(1)|skin(1)	5						c.(1279-1281)GTC>GTA		contactin 3 precursor							80.0	84.0	83.0					3																	74411124		2203	4300	6503	SO:0001819	synonymous_variant	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74411124G>T	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1281C>A	3.37:g.74411124G>T							p.V427V	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	10	1361	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	427			Ig-like C2-type 5.		B9EK50|Q9H039	Silent	SNP	ENST00000263665.6	37	c.1281C>A	CCDS33790.1																																																																																				0.502	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		7	30	1	0	5.18e-06	6.02e-06	7	30				
ROBO1	6091	broad.mit.edu	37	3	78766929	78766929	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:78766929G>A	ENST00000464233.1	-	6	875	c.762C>T	c.(760-762)gcC>gcT	p.A254A	ROBO1_ENST00000436010.2_Silent_p.A215A|ROBO1_ENST00000467549.1_Silent_p.A215A|ROBO1_ENST00000495273.1_Silent_p.A215A	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	254	Ig-like C2-type 2.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CAGTCAGCTCGGCTACTTCAC	0.383																																						uc003dqe.2		NA																	0				large_intestine(2)	2						c.(760-762)GCC>GCT		roundabout 1 isoform a							92.0	83.0	86.0					3																	78766929		1891	4111	6002	SO:0001819	synonymous_variant	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78766929G>A	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.762C>T	3.37:g.78766929G>A						ROBO1_uc003dqb.2_Silent_p.A215A|ROBO1_uc003dqc.2_Silent_p.A215A|ROBO1_uc003dqd.2_Silent_p.A215A|ROBO1_uc003dqf.1_5'Flank	p.A254A	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	6	970	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	254			Extracellular (Potential).|Ig-like C2-type 2.		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Silent	SNP	ENST00000464233.1	37	c.762C>T	CCDS54611.1																																																																																				0.383	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		4	13	0	0	0	0	4	13				
CADM2	253559	broad.mit.edu	37	3	85961535	85961535	+	Nonsense_Mutation	SNP	T	T	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:85961535T>G	ENST00000407528.2	+	5	577	c.515T>G	c.(514-516)tTa>tGa	p.L172*	CADM2_ENST00000383699.3_Nonsense_Mutation_p.L181*|CADM2_ENST00000405615.2_Nonsense_Mutation_p.L174*	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	172	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GTAAAATATTTAAAAGAAGAG	0.383																																						uc003dqj.2		NA																	0				ovary(1)|lung(1)|kidney(1)|skin(1)	4						c.(514-516)TTA>TGA		immunoglobulin superfamily, member 4D							37.0	35.0	35.0					3																	85961535		2203	4300	6503	SO:0001587	stop_gained	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:85961535T>G	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.515T>G	3.37:g.85961535T>G	ENSP00000384575:p.Leu172*					CADM2_uc003dqk.2_Nonsense_Mutation_p.L181*|CADM2_uc003dql.2_Nonsense_Mutation_p.L174*	p.L172*	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	5	1141	+		Lung NSC(201;0.0148)	172			Ig-like C2-type 1.|Extracellular (Potential).		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Nonsense_Mutation	SNP	ENST00000407528.2	37	c.515T>G	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	T	36	5.614810	0.96649	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	.	.	.	5.6	5.6	0.85130	.	0.267624	0.37178	N	0.002204	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	15.7834	0.78281	0.0:0.0:0.0:1.0	.	.	.	.	X	181;172;174	.	ENSP00000373200:L181X	L	+	2	0	CADM2	86044225	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.360000	0.52299	2.133000	0.65898	0.482000	0.46254	TTA		0.383	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		3	21	0	0	0	0	3	21				
EPHA3	2042	broad.mit.edu	37	3	89156987	89156987	+	Splice_Site	SNP	G	G	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:89156987G>C	ENST00000336596.2	+	1	313		c.e1+1		EPHA3_ENST00000452448.2_Splice_Site|EPHA3_ENST00000494014.1_Splice_Site	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3						cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TCCAATGAAGGTAAGCCAGGT	0.597										TSP Lung(6;0.00050)																												uc003dqy.2		NA																	0				lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.e1+1		ephrin receptor EphA3 isoform a precursor							106.0	84.0	92.0					3																	89156987		2203	4300	6503	SO:0001630	splice_region_variant	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89156987G>C	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.88+1G>C	3.37:g.89156987G>C		TSP Lung(6;0.00050)				EPHA3_uc003dqx.1_Splice_Site_p.V30_splice|EPHA3_uc010hon.1_Splice_Site	p.V30_splice	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	1	313	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)						Q9H2V3|Q9H2V4	Splice_Site	SNP	ENST00000336596.2	37	c.88_splice	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.976363	0.53720	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8875	0.92385	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EPHA3	89239677	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	6.972000	0.76110	2.560000	0.86352	0.462000	0.41574	.		0.597	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	Intron	14	31	0	0	0	0	14	31				
TRAT1	50852	broad.mit.edu	37	3	108568076	108568076	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:108568076T>A	ENST00000295756.6	+	5	508	c.278T>A	c.(277-279)aTg>aAg	p.M93K	TRAT1_ENST00000426646.1_Missense_Mutation_p.M56K	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	93					cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						GTAAATAAGATGCAGGAAGCC	0.363																																						uc003dxi.1		NA																	0				skin(1)	1						c.(277-279)ATG>AAG		T-cell receptor interacting molecule							84.0	82.0	83.0					3																	108568076		2203	4300	6503	SO:0001583	missense	50852				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr3:108568076T>A	AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"""T cell receptor interacting molecule"""	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.278T>A	3.37:g.108568076T>A	ENSP00000295756:p.Met93Lys					TRAT1_uc010hpx.1_Missense_Mutation_p.M56K	p.M93K	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN			5	422	+			93			Cytoplasmic (Potential).		Q9NZX5	Missense_Mutation	SNP	ENST00000295756.6	37	c.278T>A	CCDS33813.1	.	.	.	.	.	.	.	.	.	.	T	0.022	-1.412188	0.01145	.	.	ENSG00000163519	ENST00000295756;ENST00000426646	T;T	0.39056	1.1;1.1	4.75	-5.54	0.02544	.	1.938660	0.02738	N	0.115920	T	0.15305	0.0369	N	0.02011	-0.69	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.10450	0.0;0.005	T	0.11227	-1.0596	10	0.46703	T	0.11	-6.1673	2.1394	0.03771	0.1079:0.3152:0.2402:0.3368	.	56;93	C9JF66;Q6PIZ9	.;TRAT1_HUMAN	K	93;56	ENSP00000295756:M93K;ENSP00000410097:M56K	ENSP00000295756:M93K	M	+	2	0	TRAT1	110050766	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.807000	0.01734	-1.196000	0.02676	-1.871000	0.00553	ATG		0.363	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1	NM_016388		14	54	0	0	0	0	14	54				
DPPA2	151871	broad.mit.edu	37	3	109026954	109026954	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:109026954T>C	ENST00000478945.1	-	6	829	c.583A>G	c.(583-585)Aga>Gga	p.R195G		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	195					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGAACAGCTCTTGCAGCAATT	0.438																																						uc003dxo.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(583-585)AGA>GGA		developmental pluripotency associated 2							134.0	122.0	126.0					3																	109026954		2203	4300	6503	SO:0001583	missense	151871					nucleus	nucleic acid binding	g.chr3:109026954T>C	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.583A>G	3.37:g.109026954T>C	ENSP00000417710:p.Arg195Gly						p.R195G	NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN			6	830	-			195					Q8WVF0	Missense_Mutation	SNP	ENST00000478945.1	37	c.583A>G	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	T	15.81	2.944493	0.53079	.	.	ENSG00000163530	ENST00000478945	T	0.59502	0.26	4.43	3.26	0.37387	.	0.314554	0.28011	N	0.016960	T	0.64983	0.2648	L	0.53561	1.675	0.09310	N	1	D	0.64830	0.994	D	0.63793	0.918	T	0.53865	-0.8378	10	0.46703	T	0.11	-10.5339	8.242	0.31665	0.0:0.0:0.202:0.798	.	195	Q7Z7J5	DPPA2_HUMAN	G	195	ENSP00000417710:R195G	ENSP00000417710:R195G	R	-	1	2	DPPA2	110509644	0.002000	0.14202	0.004000	0.12327	0.450000	0.32258	0.937000	0.28951	1.018000	0.39521	0.454000	0.30748	AGA		0.438	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		25	91	0	0	0	0	25	91				
SEMA5B	54437	broad.mit.edu	37	3	122646669	122646669	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:122646669C>A	ENST00000357599.3	-	8	1204	c.818G>T	c.(817-819)cGc>cTc	p.R273L	SEMA5B_ENST00000195173.4_Missense_Mutation_p.R273L|SEMA5B_ENST00000451055.2_Missense_Mutation_p.R327L|AC078794.1_ENST00000408284.1_RNA	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	273	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TTGGGCAGTGCGAAGCGGTGG	0.632																																						uc003efz.1		NA																	0				ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7						c.(817-819)CGC>CTC		semaphorin 5B isoform 1							55.0	56.0	56.0					3																	122646669		2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122646669C>A	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.818G>T	3.37:g.122646669C>A	ENSP00000350215:p.Arg273Leu					SEMA5B_uc011bju.1_Missense_Mutation_p.R215L|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.R273L|SEMA5B_uc010hro.1_Missense_Mutation_p.R215L|SEMA5B_uc010hrp.1_RNA	p.R273L	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	8	1122	-			273			Extracellular (Potential).|Sema.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.818G>T	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001112	0.93227	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.13307	2.6;2.6;2.6;2.6	5.53	5.53	0.82687	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.43986	0.1272	M	0.90019	3.08	0.80722	D	1	D;D;D	0.65815	0.994;0.995;0.995	D;D;D	0.70935	0.935;0.971;0.971	T	0.48234	-0.9053	10	0.87932	D	0	.	13.8586	0.63545	0.0:0.9254:0.0:0.0746	.	215;273;273	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	L	273;273;215;327;273	ENSP00000350215:R273L;ENSP00000195173:R273L;ENSP00000389588:R327L;ENSP00000377208:R273L	ENSP00000195173:R273L	R	-	2	0	SEMA5B	124129359	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	5.936000	0.70153	2.882000	0.98803	0.655000	0.94253	CGC		0.632	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		6	40	1	0	2.77e-08	3.46e-08	6	40				
KALRN	8997	broad.mit.edu	37	3	123987646	123987646	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:123987646G>A	ENST00000240874.3	+	5	664	c.507G>A	c.(505-507)acG>acA	p.T169T	KALRN_ENST00000360013.3_Silent_p.T169T|KALRN_ENST00000460856.1_Silent_p.T169T	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	169	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T169T(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CCCAGCTGACGGAGGAGTTTG	0.587																																						uc003ehg.2		NA																	2	Substitution - coding silent(2)		upper_aerodigestive_tract(2)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(505-507)ACG>ACA		kalirin, RhoGEF kinase isoform 1							76.0	75.0	75.0					3																	123987646		2203	4300	6503	SO:0001819	synonymous_variant	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:123987646G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.507G>A	3.37:g.123987646G>A						KALRN_uc010hrv.1_Silent_p.T169T|KALRN_uc003ehf.1_Silent_p.T169T|KALRN_uc011bjy.1_Silent_p.T169T	p.T169T	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			5	634	+			169			CRAL-TRIO.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000240874.3	37	c.507G>A	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	G	6.573	0.474030	0.12521	.	.	ENSG00000160145	ENST00000448253;ENST00000354186	.	.	.	5.46	-10.9	0.00192	.	.	.	.	.	T	0.54240	0.1846	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68546	-0.5380	4	.	.	.	.	12.0157	0.53313	0.6353:0.2318:0.0754:0.0575	.	.	.	.	Q	197;147	.	.	R	+	2	0	KALRN	125470336	0.000000	0.05858	0.057000	0.19452	0.930000	0.56654	-6.658000	0.00058	-3.271000	0.00199	-1.578000	0.00866	CGG		0.587	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		13	59	0	0	0	0	13	59				
AMOTL2	51421	broad.mit.edu	37	3	134089875	134089875	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:134089875C>A	ENST00000422605.2	-	2	567	c.401G>T	c.(400-402)cGt>cTt	p.R134L	AMOTL2_ENST00000513145.1_Missense_Mutation_p.R134L|AMOTL2_ENST00000514516.1_Missense_Mutation_p.R192L|AMOTL2_ENST00000511759.1_Intron|AMOTL2_ENST00000249883.5_Missense_Mutation_p.R134L			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	134					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						CGGGGCCCCACGGGGATCTCG	0.687																																						uc003eqf.2		NA																	0				large_intestine(1)	1						c.(574-576)CGT>CTT		angiomotin like 2							20.0	21.0	21.0					3																	134089875		2199	4291	6490	SO:0001583	missense	51421							g.chr3:134089875C>A	AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"""Leman coiled-coil protein"", ""angiomotin-like protein 2"""	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.401G>T	3.37:g.134089875C>A	ENSP00000409999:p.Arg134Leu					AMOTL2_uc003eqg.1_Missense_Mutation_p.R134L|AMOTL2_uc003eqh.1_Missense_Mutation_p.R134L	p.R192L	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN			2	692	-			134					A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Missense_Mutation	SNP	ENST00000422605.2	37	c.575G>T		.	.	.	.	.	.	.	.	.	.	C	13.67	2.305788	0.40795	.	.	ENSG00000114019	ENST00000249883;ENST00000422605;ENST00000514516;ENST00000513145;ENST00000510560;ENST00000504234;ENST00000505596	T;T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57;2.57	4.53	4.53	0.55603	.	0.496290	0.21739	N	0.069848	T	0.18130	0.0435	N	0.22421	0.69	0.41794	D	0.989881	D;D;D	0.56287	0.975;0.975;0.958	P;P;P	0.55577	0.779;0.779;0.728	T	0.05178	-1.0901	10	0.28530	T	0.3	-2.2402	15.4439	0.75213	0.0:1.0:0.0:0.0	.	134;134;192	Q9Y2J4-3;Q9Y2J4-2;E9PHW3	.;.;.	L	134;134;192;134;134;134;134	ENSP00000249883:R134L;ENSP00000409999:R134L;ENSP00000424765:R192L;ENSP00000425475:R134L;ENSP00000427184:R134L;ENSP00000424910:R134L	ENSP00000249883:R134L	R	-	2	0	AMOTL2	135572565	0.843000	0.29541	0.804000	0.32291	0.111000	0.19643	3.160000	0.50739	2.212000	0.71576	0.462000	0.41574	CGT		0.687	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1	NM_016201		11	7	1	0	0.00010058	0.000111907	11	7				
AGTR1	185	broad.mit.edu	37	3	148459551	148459551	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:148459551G>A	ENST00000497524.1	+	2	1120	c.729G>A	c.(727-729)atG>atA	p.M243I	AGTR1_ENST00000475347.1_Missense_Mutation_p.M243I|AGTR1_ENST00000402260.1_Missense_Mutation_p.M243I|AGTR1_ENST00000349243.3_Missense_Mutation_p.M243I|AGTR1_ENST00000542281.1_Missense_Mutation_p.M243I|AGTR1_ENST00000418473.2_Missense_Mutation_p.M243I|AGTR1_ENST00000474935.1_Missense_Mutation_p.M243I|AGTR1_ENST00000404754.2_Missense_Mutation_p.M243I|AGTR1_ENST00000461609.1_Missense_Mutation_p.M243I	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	243					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	AGATAATTATGGCAATTGTGC	0.328																																						uc003ewg.2		NA																	0					0						c.(727-729)ATG>ATA		angiotensin II receptor, type 1	Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)						52.0	56.0	55.0					3																	148459551		2203	4300	6503	SO:0001583	missense	185				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	g.chr3:148459551G>A	M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"""GPCR / Class A : Angiotensin receptors"""	336	protein-coding gene	gene with protein product		106165	"""angiotensin receptor 1B"""	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.729G>A	3.37:g.148459551G>A	ENSP00000419422:p.Met243Ile					AGTR1_uc003ewh.2_Missense_Mutation_p.M243I|AGTR1_uc003ewi.2_Missense_Mutation_p.M243I|AGTR1_uc003ewj.2_Missense_Mutation_p.M243I|AGTR1_uc003ewk.2_Missense_Mutation_p.M243I	p.M243I	NM_031850	NP_114038	P30556	AGTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		4	1175	+			243			Helical; Name=6; (Potential).		Q13725|Q8TBK4	Missense_Mutation	SNP	ENST00000497524.1	37	c.729G>A	CCDS3137.1	.	.	.	.	.	.	.	.	.	.	G	6.308	0.424950	0.11987	.	.	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	T;T;T;T;T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76;2.76;2.76;2.76;2.76	5.48	5.48	0.80851	GPCR, rhodopsin-like superfamily (1);	0.185588	0.47455	D	0.000226	T	0.02380	0.0073	N	0.00422	-1.515	0.33910	D	0.639556	B	0.02656	0.0	B	0.04013	0.001	T	0.35599	-0.9782	10	0.11182	T	0.66	-24.3609	6.7463	0.23462	0.144:0.0:0.7075:0.1484	.	243	P30556	AGTR1_HUMAN	I	243	ENSP00000419422:M243I;ENSP00000273430:M243I;ENSP00000443186:M243I;ENSP00000398832:M243I;ENSP00000385612:M243I;ENSP00000419783:M243I;ENSP00000418084:M243I;ENSP00000418851:M243I;ENSP00000385641:M243I	ENSP00000273430:M243I	M	+	3	0	AGTR1	149942241	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	0.518000	0.22847	2.572000	0.86782	0.655000	0.94253	ATG		0.328	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355807.1			72	33	0	0	0	0	72	33				
P2RY1	5028	broad.mit.edu	37	3	152553781	152553781	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:152553781C>A	ENST00000305097.3	+	1	1046	c.210C>A	c.(208-210)agC>agA	p.S70R		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	70					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TGGGCAACAGCGTGGCCATCT	0.537																																						uc003ezq.2		NA																	0				lung(1)	1						c.(208-210)AGC>AGA		purinergic receptor P2Y1							107.0	91.0	96.0					3																	152553781		2203	4300	6503	SO:0001583	missense	5028				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:152553781C>A	U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.210C>A	3.37:g.152553781C>A	ENSP00000304767:p.Ser70Arg						p.S70R	NM_002563	NP_002554	P47900	P2RY1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	1046	+			70			Helical; Name=1; (Potential).			Missense_Mutation	SNP	ENST00000305097.3	37	c.210C>A	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.610497	0.66558	.	.	ENSG00000169860	ENST00000305097	T	0.39056	1.1	5.27	5.27	0.74061	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.61578	0.2358	M	0.87381	2.88	0.58432	D	0.999998	P	0.49783	0.928	P	0.57425	0.82	T	0.62877	-0.6761	10	0.31617	T	0.26	.	11.3799	0.49750	0.0:0.9176:0.0:0.0824	.	70	P47900	P2RY1_HUMAN	R	70	ENSP00000304767:S70R	ENSP00000304767:S70R	S	+	3	2	P2RY1	154036471	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.076000	0.30729	2.446000	0.82766	0.655000	0.94253	AGC		0.537	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	NM_002563		6	121	1	0	0.00116845	0.00125245	6	121				
PLCH1	23007	broad.mit.edu	37	3	155199248	155199248	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:155199248C>A	ENST00000340059.7	-	23	4590	c.4591G>T	c.(4591-4593)Gtg>Ttg	p.V1531L	PLCH1_ENST00000414191.1_Missense_Mutation_p.V1493L|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.V1493L|PLCH1_ENST00000460012.1_Missense_Mutation_p.V1493L	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1531					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTTGTCTTCACAGTCACGCCC	0.443																																						uc011bok.1		NA																	0				skin(3)|ovary(1)	4						c.(4591-4593)GTG>TTG		phospholipase C eta 1 isoform a							70.0	71.0	70.0					3																	155199248		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155199248C>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4591G>T	3.37:g.155199248C>A	ENSP00000345988:p.Val1531Leu					PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.V1493L	p.V1531L	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	4868	-			1531					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.4591G>T	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	0.030	-1.342825	0.01277	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	5.26	0.696	0.18075	.	0.931462	0.09173	N	0.838577	T	0.10465	0.0256	N	0.26042	0.785	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.39702	-0.9601	10	0.10111	T	0.7	.	1.2944	0.02067	0.2575:0.3431:0.2291:0.1702	.	1493;1531	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	L	1493;1531;1493;1493	ENSP00000417502:V1493L;ENSP00000345988:V1531L;ENSP00000335469:V1493L;ENSP00000412977:V1493L	ENSP00000335469:V1493L	V	-	1	0	PLCH1	156681942	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-0.501000	0.06398	0.176000	0.19873	-0.188000	0.12872	GTG		0.443	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		13	73	1	0	0.000219431	0.000242172	13	73				
SPATA16	83893	broad.mit.edu	37	3	172674544	172674544	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:172674544A>T	ENST00000351008.3	-	6	1187	c.1004T>A	c.(1003-1005)aTa>aAa	p.I335K		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	335					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			ATCAGCTCTTATTTTTGTCGC	0.368																																						uc003fin.3		NA																	0				ovary(2)|skin(1)	3						c.(1003-1005)ATA>AAA		spermatogenesis associated 16							145.0	130.0	135.0					3																	172674544		2203	4300	6503	SO:0001583	missense	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172674544A>T	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.1004T>A	3.37:g.172674544A>T	ENSP00000341765:p.Ile335Lys						p.I335K	NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		6	1162	-	Ovarian(172;0.00319)|Breast(254;0.197)		335					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	c.1004T>A	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	A	17.59	3.428332	0.62844	.	.	ENSG00000144962	ENST00000351008	T	0.21191	2.02	5.76	5.76	0.90799	.	0.165132	0.42053	D	0.000767	T	0.21962	0.0529	N	0.24115	0.695	0.35257	D	0.779236	D	0.53885	0.963	P	0.50754	0.649	T	0.26121	-1.0112	10	0.87932	D	0	-12.5184	11.0561	0.47920	0.8621:0.0:0.0:0.1379	.	335	Q9BXB7	SPT16_HUMAN	K	335	ENSP00000341765:I335K	ENSP00000341765:I335K	I	-	2	0	SPATA16	174157238	0.998000	0.40836	0.994000	0.49952	0.840000	0.47671	1.935000	0.40173	2.197000	0.70478	0.533000	0.62120	ATA		0.368	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		5	57	0	0	0	0	5	57				
IL1RAP	3556	broad.mit.edu	37	3	190366326	190366326	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:190366326G>T	ENST00000412504.2	+	11	1797	c.1545G>T	c.(1543-1545)aaG>aaT	p.K515N	IL1RAP_ENST00000317757.3_Intron|IL1RAP_ENST00000447382.1_Missense_Mutation_p.K515N|IL1RAP_ENST00000443369.2_Intron|IL1RAP_ENST00000072516.3_Missense_Mutation_p.K515N|IL1RAP_ENST00000439062.1_Missense_Mutation_p.K515N			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	515	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		AAGAGCTGAAGAGGGCTAAGA	0.498																																						uc003fsm.1		NA																	0				ovary(1)	1						c.(1543-1545)AAG>AAT		interleukin 1 receptor accessory protein isoform							106.0	107.0	107.0					3																	190366326		2203	4300	6503	SO:0001583	missense	3556				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane		g.chr3:190366326G>T	AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.1545G>T	3.37:g.190366326G>T	ENSP00000412053:p.Lys515Asn					IL1RAP_uc010hzg.1_Missense_Mutation_p.K515N|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Missense_Mutation_p.K515N|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Intron	p.K515N	NM_002182	NP_002173	Q9NPH3	IL1AP_HUMAN	Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)	12	1751	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		515			Cytoplasmic (Potential).|TIR.		B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	ENST00000412504.2	37	c.1545G>T	CCDS3298.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763565	0.69878	.	.	ENSG00000196083	ENST00000072516;ENST00000412504;ENST00000439062;ENST00000447382	T;T;T;T	0.09630	2.96;2.96;2.96;2.96	6.03	6.03	0.97812	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.871044	0.10154	N	0.709268	T	0.21631	0.0521	M	0.76938	2.355	0.44852	D	0.997861	B	0.19331	0.035	B	0.30029	0.11	T	0.03453	-1.1035	10	0.87932	D	0	.	12.8172	0.57671	0.0737:0.0:0.9262:0.0	.	515	Q9NPH3	IL1AP_HUMAN	N	515	ENSP00000072516:K515N;ENSP00000412053:K515N;ENSP00000401132:K515N;ENSP00000390541:K515N	ENSP00000072516:K515N	K	+	3	2	IL1RAP	191849020	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.222000	0.72249	2.868000	0.98415	0.557000	0.71058	AAG		0.498	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343497.1			11	97	1	0	4.37e-10	5.7e-10	11	97				
OPA1	4976	broad.mit.edu	37	3	193366587	193366587	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:193366587G>T	ENST00000392438.3	+	19	2008	c.1774G>T	c.(1774-1776)Gaa>Taa	p.E592*	OPA1_ENST00000361510.2_Nonsense_Mutation_p.E647*|OPA1_ENST00000361828.2_Nonsense_Mutation_p.E610*|OPA1_ENST00000361150.2_Nonsense_Mutation_p.E593*|OPA1_ENST00000361715.2_Nonsense_Mutation_p.E611*|OPA1_ENST00000361908.3_Nonsense_Mutation_p.E629*	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	592					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		TGCCTAGAATGAACTATTTGA	0.313																																						uc003ftm.2		NA																	0					0						c.(1774-1776)GAA>TAA		optic atrophy 1 isoform 1							73.0	83.0	80.0					3																	193366587		2202	4295	6497	SO:0001587	stop_gained	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193366587G>T	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.1774G>T	3.37:g.193366587G>T	ENSP00000376233:p.Glu592*					OPA1_uc003ftg.2_Nonsense_Mutation_p.E647*|OPA1_uc003fth.2_Nonsense_Mutation_p.E611*|OPA1_uc003fti.2_Nonsense_Mutation_p.E629*|OPA1_uc003ftj.2_Nonsense_Mutation_p.E610*|OPA1_uc003ftk.2_Nonsense_Mutation_p.E593*|OPA1_uc003ftl.2_Nonsense_Mutation_p.E574*|OPA1_uc003ftn.2_Nonsense_Mutation_p.E556*	p.E592*	NM_015560	NP_056375	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	19	2008	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		592			Mitochondrial intermembrane (By similarity).		D3DNW4	Nonsense_Mutation	SNP	ENST00000392438.3	37	c.1774G>T	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	G	42	9.516462	0.99193	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-27.864	19.6516	0.95815	0.0:0.0:1.0:0.0	.	.	.	.	X	629;592;647;611;610;593	.	ENSP00000354781:E593X	E	+	1	0	OPA1	194849281	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.370000	0.97159	2.894000	0.99253	0.655000	0.94253	GAA		0.313	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		19	64	1	0	3.52e-12	4.73e-12	19	64				
FAM43A	131583	broad.mit.edu	37	3	194408726	194408726	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:194408726A>T	ENST00000329759.4	+	1	2105	c.1171A>T	c.(1171-1173)Agc>Tgc	p.S391C		NM_153690.4	NP_710157.2	Q8N2R8	FA43A_HUMAN	family with sequence similarity 43, member A	391										breast(2)|central_nervous_system(1)|lung(6)|skin(1)	10	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)		GGGCAGCGAGAGCTCCATCGA	0.736																																						uc003fuj.2		NA																	0				central_nervous_system(1)	1						c.(1171-1173)AGC>TGC		hypothetical protein LOC131583							8.0	9.0	9.0					3																	194408726		2012	3957	5969	SO:0001583	missense	131583							g.chr3:194408726A>T	AK074503	CCDS33923.1	3q29	2004-07-28			ENSG00000185112	ENSG00000185112			26888	protein-coding gene	gene with protein product						12477932	Standard	NM_153690		Approved	FLJ90022	uc003fuj.3	Q8N2R8	OTTHUMG00000156016	ENST00000329759.4:c.1171A>T	3.37:g.194408726A>T	ENSP00000371397:p.Ser391Cys						p.S391C	NM_153690	NP_710157	Q8N2R8	FA43A_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)	1	2105	+	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	391					A3KME2|Q8IXP4|Q8WZ07	Missense_Mutation	SNP	ENST00000329759.4	37	c.1171A>T	CCDS33923.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.046299	0.75846	.	.	ENSG00000185112	ENST00000329759	D	0.85861	-2.04	4.84	4.84	0.62591	.	0.255268	0.41001	D	0.000962	D	0.87386	0.6164	L	0.39898	1.24	0.51482	D	0.99992	D	0.89917	1.0	D	0.85130	0.997	D	0.87600	0.2496	10	0.87932	D	0	-19.0412	8.0248	0.30430	0.8189:0.0:0.0:0.1811	.	391	Q8N2R8	FA43A_HUMAN	C	391	ENSP00000371397:S391C	ENSP00000371397:S391C	S	+	1	0	FAM43A	195890015	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.467000	0.45093	1.805000	0.52779	0.533000	0.62120	AGC		0.736	FAM43A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342734.1	NM_153690		7	15	0	0	0	0	7	15				
C4orf50	389197	broad.mit.edu	37	4	5975389	5975389	+	Silent	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr4:5975389T>C	ENST00000324058.5	-	4	494	c.405A>G	c.(403-405)ccA>ccG	p.P135P	C4orf50_ENST00000531445.1_Silent_p.P609P			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	135										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						ACTCTACCTCTGGGACTCCCG	0.637																																						uc003git.1		NA																	0				pancreas(2)|breast(1)	3						c.(403-405)CCA>CCG		hypothetical protein LOC389197							124.0	127.0	126.0					4																	5975389		2203	4300	6503	SO:0001819	synonymous_variant	389197							g.chr4:5975389T>C	BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000324058.5:c.405A>G	4.37:g.5975389T>C							p.P135P	NM_207405	NP_997288	Q6ZRC1	CD050_HUMAN			4	495	-			135						Silent	SNP	ENST00000324058.5	37	c.405A>G																																																																																					0.637	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_207405		73	53	0	0	0	0	73	53				
SORCS2	57537	broad.mit.edu	37	4	7533275	7533275	+	Silent	SNP	G	G	A	rs575501301		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr4:7533275G>A	ENST00000507866.2	+	3	676	c.567G>A	c.(565-567)acG>acA	p.T189T	SORCS2_ENST00000511199.1_3'UTR|SORCS2_ENST00000329016.9_Silent_p.T17T	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	189					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.T39T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						ATTTCGGGACGTCCTACACCA	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		20027	0.0		0.0	False		,,,				2504	0.001					uc003gkb.3		NA																	1	Substitution - coding silent(1)		endometrium(1)	ovary(1)|central_nervous_system(1)	2						c.(565-567)ACG>ACA		VPS10 domain receptor protein SORCS 2 precursor							88.0	101.0	97.0					4																	7533275		2111	4203	6314	SO:0001819	synonymous_variant	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7533275G>A	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.567G>A	4.37:g.7533275G>A						SORCS2_uc011bwi.1_Silent_p.T17T	p.T189T	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN			3	567	+			189			BNR 1.|Lumenal (Potential).		Q9P2L7	Silent	SNP	ENST00000507866.2	37	c.567G>A	CCDS47008.1																																																																																				0.602	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		13	10	0	0	0	0	13	10				
DRD5	1816	broad.mit.edu	37	4	9784478	9784478	+	Missense_Mutation	SNP	C	C	A	rs201762034		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr4:9784478C>A	ENST00000304374.2	+	1	1221	c.825C>A	c.(823-825)agC>agA	p.S275R		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	275					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.S275R(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GCCGGAGCAGCGCAGCCTGCG	0.637																																						uc003gmb.3		NA																	2	Substitution - Missense(2)		prostate(1)|lung(1)	skin(1)	1						c.(823-825)AGC>AGA		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						24.0	23.0	23.0					4																	9784478		2200	4286	6486	SO:0001583	missense	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784478C>A	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.825C>A	4.37:g.9784478C>A	ENSP00000306129:p.Ser275Arg						p.S275R	NM_000798	NP_000789	P21918	DRD5_HUMAN			1	1221	+			275			Cytoplasmic (Potential).		B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.825C>A	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	c	3.108	-0.183303	0.06340	.	.	ENSG00000169676	ENST00000304374	T	0.68624	-0.34	4.6	-3.74	0.04385	GPCR, rhodopsin-like superfamily (1);	2.577270	0.01820	N	0.034008	T	0.47637	0.1456	L	0.33137	0.985	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.08597	-1.0714	10	0.18710	T	0.47	.	0.5996	0.00742	0.329:0.2707:0.11:0.2903	.	275	P21918	DRD5_HUMAN	R	275	ENSP00000306129:S275R	ENSP00000306129:S275R	S	+	3	2	DRD5	9393576	0.000000	0.05858	0.001000	0.08648	0.730000	0.41778	-0.494000	0.06451	-0.695000	0.05105	0.305000	0.20034	AGC		0.637	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			4	30	1	0	0.00909568	0.00950122	4	30				
N4BP2	55728	broad.mit.edu	37	4	40104316	40104316	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr4:40104316T>C	ENST00000261435.6	+	4	1267	c.851T>C	c.(850-852)gTa>gCa	p.V284A		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	284					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GAAGCTCCTGTAGATTTGGAT	0.458																																						uc003guy.3		NA																	0				lung(3)|breast(2)|kidney(2)|ovary(1)	8						c.(850-852)GTA>GCA		Nedd4 binding protein 2							77.0	81.0	79.0					4																	40104316		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40104316T>C	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.851T>C	4.37:g.40104316T>C	ENSP00000261435:p.Val284Ala					N4BP2_uc010ifq.2_Missense_Mutation_p.V204A|N4BP2_uc010ifr.2_Missense_Mutation_p.V204A	p.V284A	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN			4	1189	+			284					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.851T>C	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	T	3.418	-0.118818	0.06838	.	.	ENSG00000078177	ENST00000261435;ENST00000381804	T	0.23147	1.92	5.53	1.42	0.22433	.	0.762275	0.11717	N	0.536341	T	0.12433	0.0302	N	0.19112	0.55	0.09310	N	1	B;B	0.14438	0.01;0.006	B;B	0.14023	0.01;0.005	T	0.35051	-0.9804	10	0.17832	T	0.49	-3.0981	2.4294	0.04468	0.257:0.0715:0.1335:0.5381	.	284;284	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	A	284;204	ENSP00000261435:V284A	ENSP00000261435:V284A	V	+	2	0	N4BP2	39780711	0.175000	0.23083	0.113000	0.21522	0.019000	0.09904	0.309000	0.19332	0.102000	0.17638	0.528000	0.53228	GTA		0.458	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		28	15	0	0	0	0	28	15				
LPHN3	23284	broad.mit.edu	37	4	62679530	62679530	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr4:62679530A>C	ENST00000514591.1	+	8	1528	c.1199A>C	c.(1198-1200)cAg>cCg	p.Q400P	LPHN3_ENST00000511324.1_Missense_Mutation_p.Q468P|LPHN3_ENST00000509896.1_Missense_Mutation_p.Q468P|LPHN3_ENST00000545650.1_Missense_Mutation_p.Q400P|LPHN3_ENST00000508946.1_Missense_Mutation_p.Q400P|LPHN3_ENST00000514157.1_Missense_Mutation_p.Q400P|LPHN3_ENST00000512091.2_Missense_Mutation_p.Q400P|LPHN3_ENST00000507625.1_Missense_Mutation_p.Q468P|LPHN3_ENST00000506700.1_Missense_Mutation_p.Q400P|LPHN3_ENST00000506746.1_Missense_Mutation_p.Q468P|LPHN3_ENST00000506720.1_Missense_Mutation_p.Q468P|LPHN3_ENST00000508693.1_Missense_Mutation_p.Q468P|LPHN3_ENST00000514996.1_Missense_Mutation_p.Q400P|LPHN3_ENST00000504896.1_Missense_Mutation_p.Q400P|LPHN3_ENST00000507164.1_Missense_Mutation_p.Q468P			Q9HAR2	LPHN3_HUMAN	latrophilin 3	400					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						tccacagggcaggcacatcat	0.363																																						uc010ihh.2		NA																	0				lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(1198-1200)CAG>CCG		latrophilin 3 precursor							121.0	113.0	116.0					4																	62679530		1935	4144	6079	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62679530A>C	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1199A>C	4.37:g.62679530A>C	ENSP00000422533:p.Gln400Pro					LPHN3_uc003hcq.3_Missense_Mutation_p.Q400P|LPHN3_uc003hcs.1_Missense_Mutation_p.Q229P	p.Q400P	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			6	1372	+			400			Extracellular (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.1199A>C	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	A	0.134	-1.110244	0.01813	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.42;-0.42;-0.42;-0.43;-0.43;-0.42;-0.41;-0.41;-0.42	3.67	2.46	0.29980	.	0.473344	0.22884	N	0.054478	T	0.35508	0.0934	N	0.08118	0	0.23221	N	0.998093	B;B	0.25521	0.0;0.128	B;B	0.20955	0.0;0.032	T	0.31166	-0.9953	10	0.02654	T	1	.	6.9363	0.24468	0.7491:0.2509:0.0:0.0	.	400;400	E9PE04;Q9HAR2-2	.;.	P	400;400;468;468;400;400;400;400;400;468;468;468;400;400;400;468;468;400	ENSP00000423388:Q400P;ENSP00000422533:Q400P;ENSP00000423787:Q468P;ENSP00000425033:Q468P;ENSP00000424120:Q400P;ENSP00000439831:Q400P;ENSP00000421476:Q468P;ENSP00000424030:Q468P;ENSP00000421372:Q468P;ENSP00000425201:Q400P;ENSP00000423434:Q400P;ENSP00000421627:Q400P;ENSP00000420931:Q468P;ENSP00000425884:Q468P;ENSP00000424258:Q400P	ENSP00000280009:Q400P	Q	+	2	0	LPHN3	62362125	0.993000	0.37304	0.997000	0.53966	0.978000	0.69477	1.960000	0.40422	0.751000	0.32900	0.460000	0.39030	CAG		0.363	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			8	8	0	0	0	0	8	8				
LPHN3	23284	broad.mit.edu	37	4	62679532	62679532	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr4:62679532G>T	ENST00000514591.1	+	8	1530	c.1201G>T	c.(1201-1203)Gca>Tca	p.A401S	LPHN3_ENST00000511324.1_Missense_Mutation_p.A469S|LPHN3_ENST00000509896.1_Missense_Mutation_p.A469S|LPHN3_ENST00000545650.1_Missense_Mutation_p.A401S|LPHN3_ENST00000508946.1_Missense_Mutation_p.A401S|LPHN3_ENST00000514157.1_Missense_Mutation_p.A401S|LPHN3_ENST00000512091.2_Missense_Mutation_p.A401S|LPHN3_ENST00000507625.1_Missense_Mutation_p.A469S|LPHN3_ENST00000506700.1_Missense_Mutation_p.A401S|LPHN3_ENST00000506746.1_Missense_Mutation_p.A469S|LPHN3_ENST00000506720.1_Missense_Mutation_p.A469S|LPHN3_ENST00000508693.1_Missense_Mutation_p.A469S|LPHN3_ENST00000514996.1_Missense_Mutation_p.A401S|LPHN3_ENST00000504896.1_Missense_Mutation_p.A401S|LPHN3_ENST00000507164.1_Missense_Mutation_p.A469S			Q9HAR2	LPHN3_HUMAN	latrophilin 3	401					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						cacagggcaggcacatcatgg	0.358																																						uc010ihh.2		NA																	0				lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(1201-1203)GCA>TCA		latrophilin 3 precursor							122.0	114.0	117.0					4																	62679532		1935	4143	6078	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62679532G>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1201G>T	4.37:g.62679532G>T	ENSP00000422533:p.Ala401Ser					LPHN3_uc003hcq.3_Missense_Mutation_p.A401S|LPHN3_uc003hcs.1_Missense_Mutation_p.A230S	p.A401S	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			6	1374	+			401			Extracellular (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.1201G>T	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.945747	0.34377	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.69926	-0.43;-0.43;-0.44;-0.44;-0.43;-0.43;-0.44;-0.44;-0.43;-0.43;-0.44;-0.42;-0.43;-0.43;-0.43	3.67	3.67	0.42095	.	0.405273	0.24894	N	0.034742	T	0.45478	0.1344	N	0.14661	0.345	0.22754	N	0.998772	B;B	0.09022	0.001;0.002	B;B	0.06405	0.001;0.002	T	0.16689	-1.0394	10	0.19147	T	0.46	.	11.1945	0.48704	0.0:0.0:1.0:0.0	.	401;401	E9PE04;Q9HAR2-2	.;.	S	401;401;469;469;401;401;401;401;401;469;469;469;401;401;401;469;469;401	ENSP00000423388:A401S;ENSP00000422533:A401S;ENSP00000423787:A469S;ENSP00000425033:A469S;ENSP00000424120:A401S;ENSP00000439831:A401S;ENSP00000421476:A469S;ENSP00000424030:A469S;ENSP00000421372:A469S;ENSP00000425201:A401S;ENSP00000423434:A401S;ENSP00000421627:A401S;ENSP00000420931:A469S;ENSP00000425884:A469S;ENSP00000424258:A401S	ENSP00000280009:A401S	A	+	1	0	LPHN3	62362127	0.929000	0.31497	0.997000	0.53966	0.984000	0.73092	0.908000	0.28545	2.343000	0.79666	0.563000	0.77884	GCA		0.358	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			8	8	1	0	4.69e-08	5.8e-08	8	8				
HERC3	8916	broad.mit.edu	37	4	89607922	89607922	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr4:89607922A>G	ENST00000402738.1	+	22	2782	c.2543A>G	c.(2542-2544)gAt>gGt	p.D848G	HERC3_ENST00000543130.1_Missense_Mutation_p.D292G|RNU6-33P_ENST00000384793.1_RNA|HERC3_ENST00000264345.3_Missense_Mutation_p.D848G	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	848					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		CCCGGGGAGGATGTGGAGGAG	0.423																																						uc003hrw.1		NA																	0				lung(2)|prostate(1)|skin(1)	4						c.(2542-2544)GAT>GGT		hect domain and RLD 3							122.0	111.0	115.0					4																	89607922		2203	4300	6503	SO:0001583	missense	8916				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity	g.chr4:89607922A>G	D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"""hect domain and RLD 3"""			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.2543A>G	4.37:g.89607922A>G	ENSP00000385684:p.Asp848Gly					HERC3_uc011cdn.1_Missense_Mutation_p.D730G|HERC3_uc011cdo.1_Missense_Mutation_p.D292G	p.D848G	NM_014606	NP_055421	Q15034	HERC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000319)	22	2709	+			848					A8K1S5|Q8IXX3	Missense_Mutation	SNP	ENST00000402738.1	37	c.2543A>G	CCDS34028.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.356943	0.82243	.	.	ENSG00000138641	ENST00000402738;ENST00000264345;ENST00000543130;ENST00000512194	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	4.98	4.98	0.66077	HECT (4);	0.000000	0.85682	D	0.000000	T	0.82162	0.4977	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87501	0.2433	10	0.87932	D	0	.	14.8428	0.70237	1.0:0.0:0.0:0.0	.	848	Q15034	HERC3_HUMAN	G	848;848;292;241	ENSP00000385684:D848G;ENSP00000264345:D848G;ENSP00000441703:D292G;ENSP00000421021:D241G	ENSP00000264345:D848G	D	+	2	0	HERC3	89826945	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	8.847000	0.92166	2.086000	0.62901	0.533000	0.62120	GAT		0.423	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		14	17	0	0	0	0	14	17				
GRID2	2895	broad.mit.edu	37	4	94006249	94006249	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr4:94006249C>A	ENST00000282020.4	+	3	606	c.348C>A	c.(346-348)caC>caA	p.H116Q	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	116					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		ATATCCCCCACCTCTTCATTC	0.562																																						uc011cdt.1		NA																	0				ovary(3)|skin(2)|large_intestine(1)	6						c.(346-348)CAC>CAA		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						124.0	104.0	111.0					4																	94006249		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94006249C>A	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.348C>A	4.37:g.94006249C>A	ENSP00000282020:p.His116Gln					GRID2_uc010ikx.2_Missense_Mutation_p.H116Q|GRID2_uc011cdu.1_Intron|GRID2_uc011cdv.1_RNA	p.H116Q	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	3	606	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	116			Extracellular (Potential).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.348C>A	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.881023	0.72294	.	.	ENSG00000152208	ENST00000282020	T	0.81163	-1.46	5.12	1.25	0.21368	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.83198	0.5202	L	0.47190	1.495	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.79108	0.992;0.992	T	0.80982	-0.1139	10	0.87932	D	0	.	8.1154	0.30940	0.0:0.5888:0.0:0.4112	.	116;57	O43424;B4DYB9	GRID2_HUMAN;.	Q	116	ENSP00000282020:H116Q	ENSP00000282020:H116Q	H	+	3	2	GRID2	94225272	0.993000	0.37304	0.998000	0.56505	0.994000	0.84299	0.413000	0.21148	0.235000	0.21160	-0.136000	0.14681	CAC		0.562	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			21	19	1	0	5.35e-11	7.06e-11	21	19				
NDST4	64579	broad.mit.edu	37	4	115858477	115858477	+	Silent	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr4:115858477G>T	ENST00000264363.2	-	5	2082	c.1404C>A	c.(1402-1404)atC>atA	p.I468I		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	468	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TGCTCACCATGATGCTATTGT	0.448																																						uc003ibu.2		NA																	0				skin(3)|ovary(1)	4						c.(1402-1404)ATC>ATA		heparan sulfate N-deacetylase/N-sulfotransferase							161.0	150.0	154.0					4																	115858477		2203	4300	6503	SO:0001819	synonymous_variant	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115858477G>T	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1404C>A	4.37:g.115858477G>T						NDST4_uc010imw.2_RNA	p.I468I	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	5	2083	-		Ovarian(17;0.156)	468			Lumenal (Potential).|Heparan sulfate N-deacetylase 4.		Q2KHM8	Silent	SNP	ENST00000264363.2	37	c.1404C>A	CCDS3706.1																																																																																				0.448	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		36	11	1	0	4.63e-21	6.66e-21	36	11				
NR3C2	4306	broad.mit.edu	37	4	149356316	149356316	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr4:149356316A>T	ENST00000358102.3	-	2	2059	c.1697T>A	c.(1696-1698)cTg>cAg	p.L566Q	NR3C2_ENST00000511528.1_Missense_Mutation_p.L566Q|NR3C2_ENST00000355292.3_Missense_Mutation_p.L566Q|NR3C2_ENST00000512865.1_Missense_Mutation_p.L566Q|NR3C2_ENST00000344721.4_Missense_Mutation_p.L566Q	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	566	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	TCTAGACGACAGGTCGCCGTG	0.413																																					Melanoma(27;428 957 40335 51025 51111)	uc003ilj.3		NA																	0				large_intestine(1)	1						c.(1696-1698)CTG>CAG		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						116.0	119.0	118.0					4																	149356316		2203	4300	6503	SO:0001583	missense	4306				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149356316A>T	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.1697T>A	4.37:g.149356316A>T	ENSP00000350815:p.Leu566Gln					NR3C2_uc003ilk.3_Missense_Mutation_p.L566Q|NR3C2_uc010iph.2_RNA	p.L566Q	NM_000901	NP_000892	P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	2	2031	-	all_hematologic(180;0.151)		566			Modulating.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	c.1697T>A	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	A	17.03	3.283641	0.59867	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.91180	-2.79;-2.8;-2.79;-2.44;-2.43;-2.8	5.51	5.51	0.81932	.	0.275770	0.30949	N	0.008542	D	0.90487	0.7020	N	0.24115	0.695	0.58432	D	0.999996	D;B	0.71674	0.998;0.369	P;B	0.62014	0.897;0.127	D	0.89753	0.3941	9	.	.	.	.	15.9104	0.79470	1.0:0.0:0.0:0.0	.	566;566	B0ZBF5;B0ZBF6	.;.	Q	566	ENSP00000341390:L566Q;ENSP00000347441:L566Q;ENSP00000350815:L566Q;ENSP00000423510:L566Q;ENSP00000343907:L566Q;ENSP00000421481:L566Q	.	L	-	2	0	NR3C2	149575766	1.000000	0.71417	0.981000	0.43875	0.932000	0.56968	8.862000	0.92283	2.210000	0.71456	0.533000	0.62120	CTG		0.413	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			22	53	0	0	0	0	22	53				
DNAH5	1767	broad.mit.edu	37	5	13859686	13859686	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr5:13859686G>A	ENST00000265104.4	-	30	4929	c.4825C>T	c.(4825-4827)Caa>Taa	p.Q1609*	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1609	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			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)					ACCCATTTTTGAATCTGGGCT	0.378									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(4825-4827)CAA>TAA		dynein, axonemal, heavy chain 5							148.0	145.0	146.0					5																	13859686		2203	4300	6503	SO:0001587	stop_gained	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.chr5:13859686G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.4825C>T	5.37:g.13859686G>A	ENSP00000265104:p.Gln1609*						p.Q1609*	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			30	4867	-	Lung NSC(4;0.00476)		1609			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	ENST00000265104.4	37	c.4825C>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	47	13.627774	0.99753	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.34	5.34	0.76211	.	0.111991	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.4621	0.94921	0.0:0.0:1.0:0.0	.	.	.	.	X	1609	.	ENSP00000265104:Q1609X	Q	-	1	0	DNAH5	13912686	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.488000	0.97947	2.662000	0.90505	0.558000	0.71614	CAA		0.378	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		42	124	0	0	0	0	42	124				
CDH18	1016	broad.mit.edu	37	5	19839081	19839081	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr5:19839081G>A	ENST00000507958.1	-	5	1005	c.15C>T	c.(13-15)agC>agT	p.S5S	CDH18_ENST00000382275.1_Silent_p.S5S|CDH18_ENST00000502796.1_Silent_p.S5S|CDH18_ENST00000274170.4_Silent_p.S5S|CDH18_ENST00000506372.1_Silent_p.S5S|CDH18_ENST00000511273.1_Silent_p.S5S			Q13634	CAD18_HUMAN	cadherin 18, type 2	5					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGCAAGATGTGCTAGTAATTT	0.433																																						uc003jgc.2		NA																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(13-15)AGC>AGT		cadherin 18, type 2 preproprotein							140.0	116.0	124.0					5																	19839081		2203	4300	6503	SO:0001819	synonymous_variant	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19839081G>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.15C>T	5.37:g.19839081G>A						CDH18_uc003jgd.2_Silent_p.S5S|CDH18_uc011cnm.1_Silent_p.S5S	p.S5S	NM_004934	NP_004925	Q13634	CAD18_HUMAN			2	392	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		5					A8K0I2|B4DHG6|Q8N5Z2	Silent	SNP	ENST00000507958.1	37	c.15C>T	CCDS3889.1																																																																																				0.433	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		16	12	0	0	0	0	16	12				
PRDM9	56979	broad.mit.edu	37	5	23522455	23522455	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr5:23522455G>T	ENST00000296682.3	+	7	733	c.551G>T	c.(550-552)cGa>cTa	p.R184L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	184					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TATAGCCTGCGAGAAAGAAAG	0.458										HNSCC(3;0.000094)																												uc003jgo.2		NA																	0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(550-552)CGA>CTA		PR domain containing 9							165.0	170.0	168.0					5																	23522455		1931	4157	6088	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23522455G>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.551G>T	5.37:g.23522455G>T	ENSP00000296682:p.Arg184Leu	HNSCC(3;0.000094)					p.R184L	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			7	733	+			184					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.551G>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.421026	0.62622	.	.	ENSG00000164256	ENST00000296682	T	0.14391	2.51	3.63	3.63	0.41609	SSXRD motif (1);	.	.	.	.	T	0.24661	0.0598	L	0.29908	0.895	0.09310	N	0.999995	D	0.69078	0.997	D	0.79784	0.993	T	0.05099	-1.0906	9	0.87932	D	0	-7.7103	11.5487	0.50708	0.0:0.0:1.0:0.0	.	184	Q9NQV7	PRDM9_HUMAN	L	184	ENSP00000296682:R184L	ENSP00000296682:R184L	R	+	2	0	PRDM9	23558212	0.910000	0.30920	0.093000	0.20910	0.011000	0.07611	2.379000	0.44318	1.974000	0.57490	0.531000	0.56144	CGA		0.458	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		45	38	1	0	5.24e-18	7.46e-18	45	38				
PRDM9	56979	broad.mit.edu	37	5	23527462	23527462	+	Silent	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr5:23527462G>T	ENST00000296682.3	+	11	2447	c.2265G>T	c.(2263-2265)cgG>cgT	p.R755R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	755					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGTGTGGGCGGGGCTTTCGCG	0.582										HNSCC(3;0.000094)																												uc003jgo.2		NA																	0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(2263-2265)CGG>CGT		PR domain containing 9							55.0	77.0	70.0					5																	23527462		2106	4293	6399	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527462G>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2265G>T	5.37:g.23527462G>T		HNSCC(3;0.000094)					p.R755R	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	2447	+			755			C2H2-type 10.		B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.2265G>T	CCDS43307.1																																																																																				0.582	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		35	36	1	0	2.41e-17	3.41e-17	35	36				
ADAMTS12	81792	broad.mit.edu	37	5	33616118	33616118	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr5:33616118C>A	ENST00000504830.1	-	15	2538	c.2203G>T	c.(2203-2205)Gag>Tag	p.E735*	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.E650*	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	735	Spacer 1.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCAGCTCCCTCAATTTCCATC	0.448										HNSCC(64;0.19)																												uc003jia.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(2203-2205)GAG>TAG		ADAM metallopeptidase with thrombospondin type 1							106.0	101.0	103.0					5																	33616118		2203	4300	6503	SO:0001587	stop_gained	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33616118C>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2203G>T	5.37:g.33616118C>A	ENSP00000422554:p.Glu735*	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Nonsense_Mutation_p.E650*	p.E735*	NM_030955	NP_112217	P58397	ATS12_HUMAN			15	2366	-			735			Spacer 1.		A2RRN9|A5D6V6|Q6UWL3	Nonsense_Mutation	SNP	ENST00000504830.1	37	c.2203G>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	41	9.019617	0.99038	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	.	.	.	5.51	3.5	0.40072	.	0.294225	0.36854	N	0.002361	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	7.6199	0.28179	0.0:0.6405:0.0:0.3595	.	.	.	.	X	735;650	.	ENSP00000344847:E650X	E	-	1	0	ADAMTS12	33651875	0.700000	0.27796	0.976000	0.42696	0.473000	0.32948	1.526000	0.35964	0.458000	0.26988	0.561000	0.74099	GAG		0.448	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		14	44	1	0	4.38e-07	5.25e-07	14	44				
MROH2B	133558	broad.mit.edu	37	5	41052600	41052600	+	Silent	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr5:41052600G>T	ENST00000399564.4	-	12	1647	c.1197C>A	c.(1195-1197)gtC>gtA	p.V399V	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	399																	ACTGGGAGAAGACATAATCAA	0.403																																						uc003jmj.3		NA																	0				ovary(6)|central_nervous_system(2)	8						c.(1195-1197)GTC>GTA		HEAT repeat family member 7B2							111.0	105.0	107.0					5																	41052600		1881	4107	5988	SO:0001819	synonymous_variant	133558						binding	g.chr5:41052600G>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1197C>A	5.37:g.41052600G>T						HEATR7B2_uc003jmi.3_Intron	p.V399V	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			12	1687	-			399					Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	ENST00000399564.4	37	c.1197C>A	CCDS47202.1																																																																																				0.403	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		13	51	1	0	7.93e-07	9.43e-07	13	51				
MEF2C	4208	broad.mit.edu	37	5	88047672	88047672	+	Splice_Site	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr5:88047672A>T	ENST00000437473.2	-	5	1007		c.e5+1		MEF2C_ENST00000514028.1_Splice_Site|MEF2C_ENST00000503554.1_Splice_Site|MEF2C_ENST00000340208.5_Splice_Site|MEF2C_ENST00000514015.1_Splice_Site|MEF2C_ENST00000539796.1_Splice_Site|MEF2C_ENST00000424173.2_Splice_Site|MEF2C_ENST00000508569.1_Splice_Site|MEF2C_ENST00000506554.1_Splice_Site|MEF2C_ENST00000510942.1_Splice_Site|MEF2C_ENST00000504921.2_Splice_Site	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C						apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		ATGAGGACATACCTGTGTTAC	0.453										HNSCC(66;0.2)																												uc003kjj.2		NA																	0				lung(3)|breast(2)|ovary(1)|large_intestine(1)	7						c.e5+1		myocyte enhancer factor 2C isoform 1							252.0	242.0	245.0					5																	88047672		2000	4178	6178	SO:0001630	splice_region_variant	4208				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|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	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:88047672A>T	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.589+1T>A	5.37:g.88047672A>T		HNSCC(66;0.2)				MEF2C_uc003kji.2_Splice_Site_p.G197_splice|MEF2C_uc003kjk.2_Splice_Site_p.G197_splice|MEF2C_uc003kjm.2_Splice_Site_p.G195_splice|MEF2C_uc003kjl.2_Splice_Site_p.G215_splice	p.G197_splice	NM_002397	NP_002388	Q06413	MEF2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)	5	1262	-		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)						C9JMZ0|D7F7N5|F8W7V7	Splice_Site	SNP	ENST00000437473.2	37	c.589_splice	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.274978	0.80580	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000539796;ENST00000513252;ENST00000506716	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6537	0.77118	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MEF2C	88083428	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.162000	0.89657	2.099000	0.63709	0.377000	0.23210	.		0.453	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397	Intron	43	105	0	0	0	0	43	105				
KCNN2	3781	broad.mit.edu	37	5	113698644	113698644	+	Missense_Mutation	SNP	G	G	T	rs34895620	byFrequency	TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr5:113698644G>T	ENST00000512097.3	+	2	1190	c.172G>T	c.(172-174)Gct>Tct	p.A58S	KCNN2_ENST00000264773.3_Missense_Mutation_p.A58S			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	58	Poly-Ala.			A -> AA (in Ref. 2; AAP45946). {ECO:0000305}.	potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	CGCCGCCGCCGCTGTTTCGTC	0.697																																						uc003kqo.2		NA																	0				ovary(2)	2						c.(172-174)GCT>TCT		small conductance calcium-activated potassium							10.0	11.0	10.0					5																	113698644		2165	4226	6391	SO:0001583	missense	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113698644G>T	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.172G>T	5.37:g.113698644G>T	ENSP00000427120:p.Ala58Ser						p.A58S	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	1	629	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	58			Poly-Ala.		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	ENST00000512097.3	37	c.172G>T	CCDS4114.1	.	.	.	.	.	.	.	.	.	.	G	0.040	-1.288629	0.01387	.	.	ENSG00000080709	ENST00000512097;ENST00000264773	D;D	0.98192	-4.78;-4.78	0.427	-0.555	0.11807	.	.	.	.	.	D	0.91324	0.7264	N	0.08118	0	0.47621	D	0.999479	B	0.10296	0.003	B	0.01281	0.0	T	0.81113	-0.1080	8	0.07175	T	0.84	.	.	.	.	.	58	Q9H2S1	KCNN2_HUMAN	S	58	ENSP00000427120:A58S;ENSP00000264773:A58S	ENSP00000264773:A58S	A	+	1	0	KCNN2	113726543	1.000000	0.71417	0.733000	0.30861	0.118000	0.20060	0.820000	0.27323	-0.362000	0.08113	-0.354000	0.07668	GCT		0.697	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		4	0	1	0	3.1e-07	3.74e-07	4	0				
PCDHA2	56146	broad.mit.edu	37	5	140176015	140176015	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr5:140176015T>A	ENST00000526136.1	+	1	1466	c.1466T>A	c.(1465-1467)cTg>cAg	p.L489Q	PCDHA2_ENST00000378132.1_Missense_Mutation_p.L489Q|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.L489Q|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	489	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAACGCGCTGGTGTCCTAC	0.657																																						uc003lhd.2		NA																	0				ovary(4)	4						c.(1465-1467)CTG>CAG		protocadherin alpha 2 isoform 1 precursor							63.0	67.0	65.0					5																	140176015		2203	4300	6503	SO:0001583	missense	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140176015T>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1466T>A	5.37:g.140176015T>A	ENSP00000431748:p.Leu489Gln					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.L489Q|PCDHA2_uc011czy.1_Missense_Mutation_p.L489Q	p.L489Q	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1572	+			489			Cadherin 5.|Extracellular (Potential).		O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1466T>A	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	t	14.88	2.667347	0.47677	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.49432	0.78;0.78;0.78	3.94	-5.74	0.02391	Cadherin (4);Cadherin-like (1);	1.355730	0.06084	U	0.662473	T	0.41305	0.1153	N	0.11651	0.15	0.09310	N	1	P;P;P	0.45569	0.861;0.819;0.861	P;P;P	0.55161	0.621;0.77;0.621	T	0.50154	-0.8861	10	0.37606	T	0.19	.	13.6139	0.62097	0.1005:0.0:0.6642:0.2353	.	489;489;489	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	Q	489	ENSP00000430584:L489Q;ENSP00000367372:L489Q;ENSP00000431748:L489Q	ENSP00000367372:L489Q	L	+	2	0	PCDHA2	140156199	0.000000	0.05858	0.823000	0.32752	0.820000	0.46376	-2.750000	0.00793	-1.251000	0.02494	-1.292000	0.01352	CTG		0.657	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		23	42	0	0	0	0	23	42				
PCDHA13	56136	broad.mit.edu	37	5	140262396	140262396	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr5:140262396C>T	ENST00000289272.2	+	1	543	c.543C>T	c.(541-543)gaC>gaT	p.D181D	PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.D181D|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	181	Cadherin 2. {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)			TCACTTTGGACGCACAAAACA	0.433																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(541-543)GAC>GAT		protocadherin alpha 13 isoform 1 precursor							90.0	89.0	89.0					5																	140262396		2203	4300	6503	SO:0001819	synonymous_variant	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140262396C>T	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.543C>T	5.37:g.140262396C>T						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.D181D|PCDHA13_uc003lid.2_Silent_p.D181D	p.D181D	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	543	+			181			Extracellular (Potential).|Cadherin 2.		O75277	Silent	SNP	ENST00000289272.2	37	c.543C>T	CCDS4240.1																																																																																				0.433	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		7	42	0	0	0	0	7	42				
FAM65B	9750	broad.mit.edu	37	6	24861201	24861201	+	Splice_Site	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr6:24861201C>A	ENST00000259698.4	-	8	803	c.628G>T	c.(628-630)Ggt>Tgt	p.G210C	FAM65B_ENST00000540914.1_Splice_Site_p.G210C|FAM65B_ENST00000378023.4_Splice_Site_p.G210C|FAM65B_ENST00000538035.1_Splice_Site_p.G239C|FAM65B_ENST00000510784.2_Splice_Site_p.G244C	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	210					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						AAAATAATACCTTTCATCTTG	0.428																																						uc003neo.1		NA																	0				ovary(1)	1						c.(628-630)GGT>TGT		hypothetical protein LOC9750 isoform 1							59.0	55.0	56.0					6																	24861201		1864	4095	5959	SO:0001630	splice_region_variant	9750				cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding	g.chr6:24861201C>A	U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"""myogenesis-related and NCAM-associated protein homolog (chicken)"""	611410	"""chromosome 6 open reading frame 32"""	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.628+1G>T	6.37:g.24861201C>A						FAM65B_uc011djs.1_Missense_Mutation_p.G239C|FAM65B_uc011dju.1_Missense_Mutation_p.G244C|FAM65B_uc003nep.2_Missense_Mutation_p.G210C|FAM65B_uc011djt.1_Missense_Mutation_p.G210C	p.G210C	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN			8	804	-			210					A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Missense_Mutation	SNP	ENST00000259698.4	37	c.628G>T	CCDS47383.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624465	0.87560	.	.	ENSG00000111913	ENST00000259698;ENST00000538035;ENST00000378023;ENST00000540914;ENST00000510784	T;T;T;T;T	0.02472	4.28;4.28;4.28;4.28;4.28	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.11580	0.0282	M	0.80616	2.505	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.02411	-1.1163	9	.	.	.	-16.8258	18.8805	0.92354	0.0:1.0:0.0:0.0	.	244;239;210;210	B7Z6U4;F5GX51;Q9Y4F9-2;Q9Y4F9	.;.;.;FA65B_HUMAN	C	210;239;210;210;244	ENSP00000259698:G210C;ENSP00000441138:G239C;ENSP00000367262:G210C;ENSP00000438425:G210C;ENSP00000441305:G244C	.	G	-	1	0	FAM65B	24969180	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.332000	0.79203	2.446000	0.82766	0.591000	0.81541	GGT		0.428	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040024.2		Missense_Mutation	6	3	1	0	0.00198382	0.00211814	6	3				
HIST1H4G	8369	broad.mit.edu	37	6	26246948	26246948	+	Silent	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr6:26246948G>T	ENST00000244537.4	-	1	311	c.258C>A	c.(256-258)gcC>gcA	p.A86A		NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN	histone cluster 1, H4g	86						nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CGTAGACCACGGCCATGGCGG	0.567																																						uc003nhf.2		NA																	0					0						c.(256-258)GCC>GCA		histone cluster 1, H4g							67.0	55.0	59.0					6																	26246948		2203	4300	6503	SO:0001819	synonymous_variant	8369				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26246948G>T	Z80788	CCDS4599.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124578	ENSG00000275663		"""Histones / Replication-dependent"""	4792	protein-coding gene	gene with protein product		602832	"""H4 histone family, member L"", ""histone 1, H4g"""	H4FL		9119399, 12408966	Standard	NM_003547		Approved	H4/l	uc003nhf.3	Q99525	OTTHUMG00000014444	ENST00000244537.4:c.258C>A	6.37:g.26246948G>T							p.A86A	NM_003547	NP_003538	Q99525	H4G_HUMAN			1	258	-		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)	86						Silent	SNP	ENST00000244537.4	37	c.258C>A	CCDS4599.1																																																																																				0.567	HIST1H4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040107.1	NM_003547		19	8	1	0	4.35e-09	5.53e-09	19	8				
DST	667	broad.mit.edu	37	6	56341031	56341031	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr6:56341031C>A	ENST00000361203.3	-	87	20827	c.20820G>T	c.(20818-20820)tgG>tgT	p.W6940C	DST_ENST00000370788.2_Missense_Mutation_p.W4854C|DST_ENST00000370769.4_Missense_Mutation_p.W7051C|DST_ENST00000370754.5_Missense_Mutation_p.W7229C|DST_ENST00000446842.2_Missense_Mutation_p.W6725C|DST_ENST00000244364.6_Missense_Mutation_p.W4637C|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.W4963C			Q03001	DYST_HUMAN	dystonin	6940					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TAGTTTCAGCCCATTGCAACC	0.448																																						uc003pdf.2		NA																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(15421-15423)TGG>TGT		dystonin isoform 2							66.0	64.0	65.0					6																	56341031		1928	4123	6051	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56341031C>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.20820G>T	6.37:g.56341031C>A	ENSP00000354508:p.Trp6940Cys					DST_uc003pcz.3_Missense_Mutation_p.W4963C|DST_uc011dxj.1_Missense_Mutation_p.W4992C|DST_uc011dxk.1_Missense_Mutation_p.W5003C|DST_uc003pcy.3_Missense_Mutation_p.W4637C	p.W5141C	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		86	15451	-	Lung NSC(77;0.103)		7049					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.15423G>T		.	.	.	.	.	.	.	.	.	.	C	17.58	3.425649	0.62733	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.50813	0.73;1.37;1.37;0.73;1.37;1.37;1.37	5.87	5.87	0.94306	.	0.000000	0.51477	D	0.000087	T	0.68677	0.3027	M	0.81802	2.56	0.37137	D	0.901526	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.99;0.998	D;D;D;P;D	0.91635	0.998;0.999;0.999;0.707;0.98	T	0.68284	-0.5449	9	0.56958	D	0.05	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	4963;7051;7229;7049;4637	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	C	4637;7229;7051;4963;6725;4854;6940	ENSP00000244364:W4637C;ENSP00000359790:W7229C;ENSP00000359805:W7051C;ENSP00000400883:W4963C;ENSP00000393645:W6725C;ENSP00000359824:W4854C;ENSP00000354508:W6940C	ENSP00000244364:W4637C	W	-	3	0	DST	56448990	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.089000	0.71384	2.941000	0.99782	0.655000	0.94253	TGG		0.448	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		10	8	1	0	0.000442599	0.000481981	10	8				
PHF3	23469	broad.mit.edu	37	6	64395424	64395424	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr6:64395424C>A	ENST00000262043.3	+	4	2141	c.1801C>A	c.(1801-1803)Cac>Aac	p.H601N	PHF3_ENST00000509330.1_Missense_Mutation_p.H601N|PHF3_ENST00000393387.1_Missense_Mutation_p.H601N			Q92576	PHF3_HUMAN	PHD finger protein 3	601					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TGATAAGTCACACGCTCATCC	0.398																																					GBM(135;136 1820 29512 34071 46235)	uc003pep.1		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(1801-1803)CAC>AAC		PHD finger protein 3							75.0	70.0	71.0					6																	64395424		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64395424C>A	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.1801C>A	6.37:g.64395424C>A	ENSP00000262043:p.His601Asn					PHF3_uc010kaf.1_Missense_Mutation_p.H601N|PHF3_uc003pem.2_Missense_Mutation_p.H554N|PHF3_uc010kag.1_Missense_Mutation_p.H513N|PHF3_uc010kah.1_Missense_Mutation_p.H415N|PHF3_uc003pen.2_Missense_Mutation_p.H513N|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.2_Missense_Mutation_p.H601N	p.H601N	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		3	1827	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		601					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.1801C>A	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.793618	0.00623	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387	T;T;T;T;T;T	0.42900	2.26;1.94;2.28;1.95;0.96;2.28	5.77	3.97	0.46021	.	0.374492	0.19535	N	0.111931	T	0.12774	0.0310	L	0.47716	1.5	0.09310	N	1	B;B	0.18610	0.002;0.029	B;B	0.18561	0.003;0.022	T	0.30592	-0.9973	10	0.08381	T	0.77	-1.9771	9.2733	0.37684	0.4034:0.5279:0.0:0.0686	.	601;601	Q92576;D6R9X2	PHF3_HUMAN;.	N	415;513;601;554;601;601	ENSP00000424694:H415N;ENSP00000425227:H513N;ENSP00000262043:H601N;ENSP00000424078:H554N;ENSP00000422841:H601N;ENSP00000377048:H601N	ENSP00000262043:H601N	H	+	1	0	PHF3	64453383	0.004000	0.15560	0.008000	0.14137	0.034000	0.12701	1.508000	0.35769	0.757000	0.33036	-0.229000	0.12294	CAC		0.398	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			11	159	1	0	2.27e-07	2.75e-07	11	159				
SMAP1	60682	broad.mit.edu	37	6	71570005	71570005	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr6:71570005G>T	ENST00000370455.3	+	11	1620	c.1372G>T	c.(1372-1374)Ggt>Tgt	p.G458C	SMAP1_ENST00000316999.5_Missense_Mutation_p.G431C|SMAP1_ENST00000370452.3_3'UTR|B3GAT2_ENST00000230053.6_3'UTR	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	458					positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						AAGCTCATCAGGTCAGACTCT	0.498																																						uc003pfr.2		NA																	0					0						c.(1372-1374)GGT>TGT		stromal membrane-associated GTPase-activating							116.0	105.0	109.0					6																	71570005		2203	4300	6503	SO:0001583	missense	60682				regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	g.chr6:71570005G>T	AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"""ADP-ribosylation factor GTPase activating proteins"""	19651	protein-coding gene	gene with protein product		611372	"""stromal membrane-associated protein 1"", ""stromal membrane-associated GTPase-activating protein 1"""			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.1372G>T	6.37:g.71570005G>T	ENSP00000359484:p.Gly458Cys					SMAP1_uc003pfs.2_Missense_Mutation_p.G431C|SMAP1_uc010kao.2_3'UTR|SMAP1_uc010kap.2_Missense_Mutation_p.G448C|B3GAT2_uc011dxz.1_RNA	p.G458C	NM_001044305	NP_001037770	Q8IYB5	SMAP1_HUMAN			11	1620	+			458					Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Missense_Mutation	SNP	ENST00000370455.3	37	c.1372G>T	CCDS43478.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.213108	0.58452	.	.	ENSG00000112305	ENST00000316999;ENST00000370455	T;T	0.29655	1.72;1.56	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.48786	0.1519	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.49370	-0.8947	10	0.72032	D	0.01	-15.76	19.3497	0.94378	0.0:0.0:1.0:0.0	.	458;431;458	A8K333;Q8IYB5-2;Q8IYB5	.;.;SMAP1_HUMAN	C	431;458	ENSP00000313382:G431C;ENSP00000359484:G458C	ENSP00000313382:G431C	G	+	1	0	SMAP1	71626726	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.420000	0.97426	2.643000	0.89663	0.650000	0.86243	GGT		0.498	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041149.1	NM_001044305		8	60	1	0	0.000442599	0.000481981	8	60				
PHIP	55023	broad.mit.edu	37	6	79711634	79711634	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr6:79711634T>A	ENST00000275034.4	-	17	2028	c.1861A>T	c.(1861-1863)Atg>Ttg	p.M621L		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	621					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GTTACTCCCATCTGAGGGATG	0.398																																						uc003pir.2		NA																	0				large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(1861-1863)ATG>TTG		pleckstrin homology domain interacting protein							61.0	59.0	59.0					6																	79711634		2203	4299	6502	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79711634T>A	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.1861A>T	6.37:g.79711634T>A	ENSP00000275034:p.Met621Leu					PHIP_uc011dyp.1_Missense_Mutation_p.M621L	p.M621L	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	17	2087	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	621					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.1861A>T	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	T	6.871	0.530122	0.13127	.	.	ENSG00000146247	ENST00000275034	T	0.30981	1.51	5.67	5.67	0.87782	.	0.055485	0.64402	D	0.000001	T	0.04452	0.0122	N	0.01751	-0.74	0.58432	D	0.999999	B;B	0.12013	0.005;0.005	B;B	0.09377	0.004;0.004	T	0.34850	-0.9812	9	.	.	.	-15.686	11.3923	0.49822	0.0:0.0:0.1511:0.8489	.	621;621	A7J992;Q8WWQ0	.;PHIP_HUMAN	L	621	ENSP00000275034:M621L	.	M	-	1	0	PHIP	79768353	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	3.117000	0.50407	2.281000	0.76405	0.528000	0.53228	ATG		0.398	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			22	13	0	0	0	0	22	13				
AKIRIN2	55122	broad.mit.edu	37	6	88387536	88387536	+	Splice_Site	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr6:88387536C>A	ENST00000257787.5	-	3	1053	c.529G>T	c.(529-531)Gaa>Taa	p.E177*		NM_018064.3	NP_060534.1	Q53H80	AKIR2_HUMAN	akirin 2	177					embryo development (GO:0009790)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to lipopolysaccharide (GO:0032496)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)			large_intestine(4)	4						CACCTCATACCTGCAAGTTTT	0.378																																						uc003pmk.2		NA																	0					0						c.(529-531)GAA>TAA		akirin 2							142.0	147.0	145.0					6																	88387536		2203	4300	6503	SO:0001630	splice_region_variant	55122				innate immune response|transcription, DNA-dependent	transcriptional repressor complex		g.chr6:88387536C>A	BC000764	CCDS5013.1	6q15	2009-04-17	2008-06-23	2008-06-23	ENSG00000135334	ENSG00000135334			21407	protein-coding gene	gene with protein product		615165	"""chromosome 6 open reading frame 166"""	C6orf166			Standard	NM_018064		Approved	FLJ10342, dJ486L4.2	uc003pmk.3	Q53H80	OTTHUMG00000015180	ENST00000257787.5:c.529+1G>T	6.37:g.88387536C>A							p.E177*	NM_018064	NP_060534	Q53H80	AKIR2_HUMAN			3	1112	-			177					Q9BQB1	Nonsense_Mutation	SNP	ENST00000257787.5	37	c.529G>T	CCDS5013.1	.	.	.	.	.	.	.	.	.	.	C	41	8.832054	0.98970	.	.	ENSG00000135334	ENST00000257787	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.069	20.5827	0.99408	0.0:1.0:0.0:0.0	.	.	.	.	X	177	.	.	E	-	1	0	AKIRIN2	88444255	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.445000	0.80570	2.941000	0.99782	0.655000	0.94253	GAA		0.378	AKIRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041455.1	NM_018064	Nonsense_Mutation	18	29	1	0	3.52e-12	4.73e-12	18	29				
ASCC3	10973	broad.mit.edu	37	6	100964151	100964151	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr6:100964151C>A	ENST00000369162.2	-	39	6324	c.5980G>T	c.(5980-5982)Gag>Tag	p.E1994*		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1994	SEC63 2.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.E1994*(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GGAAGGGACTCGATGGAGGTC	0.453																																						uc003pqk.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(5)|skin(1)	6						c.(5980-5982)GAG>TAG		activating signal cointegrator 1 complex subunit							127.0	122.0	124.0					6																	100964151		2203	4300	6503	SO:0001587	stop_gained	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:100964151C>A	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.5980G>T	6.37:g.100964151C>A	ENSP00000358159:p.Glu1994*						p.E1994*	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	39	6309	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1994					E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Nonsense_Mutation	SNP	ENST00000369162.2	37	c.5980G>T	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	C	46	12.950606	0.99708	.	.	ENSG00000112249	ENST00000369162	.	.	.	4.96	4.96	0.65561	.	0.128714	0.52532	D	0.000077	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	17.5585	0.87900	0.0:1.0:0.0:0.0	.	.	.	.	X	1994	.	ENSP00000358159:E1994X	E	-	1	0	ASCC3	101070872	1.000000	0.71417	0.952000	0.39060	0.477000	0.33069	4.887000	0.63156	2.472000	0.83506	0.467000	0.42956	GAG		0.453	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		43	33	1	0	5.45e-19	7.77e-19	43	33				
LPA	4018	broad.mit.edu	37	6	160978515	160978515	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr6:160978515A>G	ENST00000316300.5	-	29	4764	c.4720T>C	c.(4720-4722)Tgc>Cgc	p.C1574R	LPA_ENST00000447678.1_Missense_Mutation_p.C1574R			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4082	Kringle 14. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GTCAGATTGCAGTACTCCCAC	0.493																																						uc003qtl.2		NA																	0				ovary(3)|skin(2)|pancreas(1)	6						c.(4720-4722)TGC>CGC		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						126.0	123.0	124.0					6																	160978515		2047	4230	6277	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160978515A>G	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4720T>C	6.37:g.160978515A>G	ENSP00000321334:p.Cys1574Arg						p.C1574R	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	30	4840	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	4082			Kringle 36.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.4720T>C	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	a	16.25	3.069479	0.55539	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.93953	-3.32;-3.32	2.55	2.55	0.30701	Kringle (4);Kringle-like fold (1);	.	.	.	.	D	0.97766	0.9267	H	0.99820	4.81	0.80722	D	1	D	0.53312	0.959	D	0.70935	0.971	D	0.96561	0.9415	9	0.87932	D	0	.	8.1914	0.31370	1.0:0.0:0.0:0.0	.	4082	P08519	APOA_HUMAN	R	1574	ENSP00000321334:C1574R;ENSP00000395608:C1574R	ENSP00000321334:C1574R	C	-	1	0	LPA	160898505	1.000000	0.71417	0.596000	0.28811	0.330000	0.28571	6.817000	0.75252	1.158000	0.42547	0.352000	0.21897	TGC		0.493	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		39	34	0	0	0	0	39	34				
C7orf50	84310	broad.mit.edu	37	7	1040142	1040142	+	Silent	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:1040142C>T	ENST00000397098.3	-	4	1295	c.369G>A	c.(367-369)caG>caA	p.Q123Q	C7orf50_ENST00000488073.1_5'UTR|C7orf50_ENST00000357429.6_Silent_p.Q123Q|C7orf50_ENST00000397100.2_Silent_p.Q123Q			Q9BRJ6	CG050_HUMAN	chromosome 7 open reading frame 50	123							poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		GGAGCCACGTCTGCCTCGTCT	0.597																																						uc003sju.2		NA																	0					0						c.(367-369)CAG>CAA		hypothetical protein LOC84310							198.0	132.0	154.0					7																	1040142		2190	4292	6482	SO:0001819	synonymous_variant	84310						protein binding	g.chr7:1040142C>T	BC006224	CCDS5320.1	7p22.3	2011-11-25			ENSG00000146540	ENSG00000146540			22421	protein-coding gene	gene with protein product							Standard	NM_032350		Approved	MGC11257, YCR016W	uc011jvu.1	Q9BRJ6	OTTHUMG00000151477	ENST00000397098.3:c.369G>A	7.37:g.1040142C>T						C7orf50_uc003sjs.2_RNA|C7orf50_uc011jvt.1_Silent_p.Q123Q|C7orf50_uc011jvu.1_Silent_p.Q123Q	p.Q123Q	NM_032350	NP_115726	Q9BRJ6	CG050_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)	4	439	-		Ovarian(82;0.0779)	123						Silent	SNP	ENST00000397098.3	37	c.369G>A	CCDS5320.1	.	.	.	.	.	.	.	.	.	.	C	0.847	-0.740017	0.03088	.	.	ENSG00000146540	ENST00000412051	.	.	.	4.84	1.99	0.26369	.	.	.	.	.	T	0.54581	0.1867	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49031	-0.8981	4	.	.	.	-46.728	6.6668	0.23044	0.0:0.7089:0.0:0.2911	.	.	.	.	N	108	.	.	D	-	1	0	C7orf50	1006668	1.000000	0.71417	1.000000	0.80357	0.271000	0.26615	1.669000	0.37492	1.031000	0.39867	-0.311000	0.09066	GAC		0.597	C7orf50-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322817.3	NM_032350		6	3	0	0	0	0	6	3				
ITGB8	3696	broad.mit.edu	37	7	20403258	20403258	+	Splice_Site	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:20403258A>T	ENST00000222573.4	+	2	811		c.e2-1		ITGB8_ENST00000537992.1_Splice_Site	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8						cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CCTTCATTGCAGAAGACAATA	0.368																																						uc003suu.2		NA																	0				skin(3)	3						c.e2-2		integrin, beta 8 precursor							58.0	54.0	55.0					7																	20403258		2203	4299	6502	SO:0001630	splice_region_variant	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20403258A>T		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.128-1A>T	7.37:g.20403258A>T						ITGB8_uc011jyh.1_Splice_Site|ITGB8_uc003sut.2_Splice_Site_p.E43_splice	p.E43_splice	NM_002214	NP_002205	P26012	ITB8_HUMAN			2	833	+								A4D133|B4DHD4	Splice_Site	SNP	ENST00000222573.4	37	c.128_splice	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	A	13.19	2.163671	0.38217	.	.	ENSG00000105855	ENST00000222573	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7388	0.77870	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITGB8	20369783	1.000000	0.71417	1.000000	0.80357	0.257000	0.26127	6.125000	0.71627	2.119000	0.64992	0.533000	0.62120	.		0.368	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214	Intron	12	5	0	0	0	0	12	5				
AVL9	23080	broad.mit.edu	37	7	32598671	32598671	+	Silent	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:32598671A>T	ENST00000318709.4	+	10	1031	c.810A>T	c.(808-810)tcA>tcT	p.S270S	AVL9_ENST00000404479.1_Silent_p.S270S|AVL9_ENST00000409301.1_Silent_p.S270S	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	270					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CTGATGTTTCACATACCAACT	0.463																																						uc003tcv.1		NA																	0					0						c.(808-810)TCA>TCT		AVL9 homolog (S. cerevisiase)							84.0	78.0	80.0					7																	32598671		2203	4300	6503	SO:0001819	synonymous_variant	23080					integral to membrane		g.chr7:32598671A>T	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"""KIAA0241"""	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.810A>T	7.37:g.32598671A>T						AVL9_uc011kai.1_Silent_p.S270S|AVL9_uc010kwj.1_Silent_p.S111S	p.S270S	NM_015060	NP_055875	Q8NBF6	AVL9_HUMAN			10	956	+			270					Q92573	Silent	SNP	ENST00000318709.4	37	c.810A>T	CCDS34613.1																																																																																				0.463	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060		18	31	0	0	0	0	18	31				
SUN3	256979	broad.mit.edu	37	7	48035729	48035729	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:48035729C>G	ENST00000297325.4	-	7	751	c.592G>C	c.(592-594)Gaa>Caa	p.E198Q	SUN3_ENST00000453192.2_Missense_Mutation_p.E186Q|SUN3_ENST00000395572.2_Missense_Mutation_p.E198Q|SUN3_ENST00000412142.1_Missense_Mutation_p.E98Q|SUN3_ENST00000473723.1_5'UTR	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	198	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.					integral component of membrane (GO:0016021)|SUN-KASH complex (GO:0034993)				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTCCCAGCTTCAATGATGGAG	0.303																																						uc003tof.2		NA																	0				central_nervous_system(1)	1						c.(592-594)GAA>CAA		Sad1 and UNC84 domain containing 1							61.0	65.0	64.0					7																	48035729		2203	4289	6492	SO:0001583	missense	256979					integral to membrane		g.chr7:48035729C>G	AF429967	CCDS34636.1, CCDS64647.1	7p12.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164744	ENSG00000164744			22429	protein-coding gene	gene with protein product			"""Sad1 and UNC84 domain containing 1"""	SUNC1			Standard	NM_001284350		Approved	MGC33329	uc003tof.3	Q8TAQ9	OTTHUMG00000155646	ENST00000297325.4:c.592G>C	7.37:g.48035729C>G	ENSP00000297325:p.Glu198Gln					SUN3_uc010kyq.2_Missense_Mutation_p.E98Q|SUN3_uc003tog.2_Missense_Mutation_p.E198Q|SUN3_uc011kcf.1_Missense_Mutation_p.E186Q	p.E198Q	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN			8	689	-			198			SUN.		A4D2F3|B4DXK1|D3DVM3|E7EWC8|Q4F965|Q7Z4U8	Missense_Mutation	SNP	ENST00000297325.4	37	c.592G>C	CCDS34636.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.53|13.53	2.265665|2.265665	0.40095|0.40095	.|.	.|.	ENSG00000164744|ENSG00000164744	ENST00000297325;ENST00000412371;ENST00000412142;ENST00000395572;ENST00000453192;ENST00000438771|ENST00000453071	T;T;T;T;T;T|.	0.43294|.	1.9;0.95;1.94;1.9;2.5;1.94|.	5.25|5.25	5.25|5.25	0.73442|0.73442	Sad1/UNC-like, C-terminal (1);|.	0.431840|.	0.25711|.	N|.	0.028807|.	T|T	0.46541|0.46541	0.1398|0.1398	N|N	0.21448|0.21448	0.665|0.665	0.33379|0.33379	D|D	0.574617|0.574617	D;D;D|.	0.71674|.	0.964;0.996;0.998|.	P;P;D|.	0.63381|.	0.607;0.889;0.914|.	T|T	0.55742|0.55742	-0.8093|-0.8093	10|5	0.51188|.	T|.	0.08|.	.|.	14.4091|14.4091	0.67103|0.67103	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	186;98;198|.	E7EWC8;Q8TAQ9-2;Q8TAQ9|.	.;.;SUN3_HUMAN|.	Q|F	198;20;98;198;186;98|121	ENSP00000297325:E198Q;ENSP00000406887:E20Q;ENSP00000410204:E98Q;ENSP00000378939:E198Q;ENSP00000387525:E186Q;ENSP00000409077:E98Q|.	ENSP00000297325:E198Q|.	E|L	-|-	1|3	0|2	SUN3|SUN3	48002254|48002254	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	1.954000|1.954000	0.40362|0.40362	2.489000|2.489000	0.83994|0.83994	0.650000|0.650000	0.86243|0.86243	GAA|TTG		0.303	SUN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340962.1	NM_152782		14	78	0	0	0	0	14	78				
AUTS2	26053	broad.mit.edu	37	7	70255697	70255697	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:70255697G>A	ENST00000342771.4	+	19	3816	c.3495G>A	c.(3493-3495)acG>acA	p.T1165T	AUTS2_ENST00000406775.2_Silent_p.T1141T	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1165	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ACGAGCACACGCGGCTCCACT	0.692																																						uc003tvw.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(3493-3495)ACG>ACA		autism susceptibility candidate 2 isoform 1							44.0	52.0	49.0					7																	70255697		2203	4299	6502	SO:0001819	synonymous_variant	26053							g.chr7:70255697G>A	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.3495G>A	7.37:g.70255697G>A						AUTS2_uc003tvx.3_Silent_p.T1141T|AUTS2_uc011keg.1_Silent_p.T617T	p.T1165T	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	19	4238	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	1165			His-rich.		A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Silent	SNP	ENST00000342771.4	37	c.3495G>A	CCDS5539.1																																																																																				0.692	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			14	29	0	0	0	0	14	29				
HGF	3082	broad.mit.edu	37	7	81335729	81335729	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:81335729T>A	ENST00000222390.5	-	15	1857	c.1631A>T	c.(1630-1632)tAt>tTt	p.Y544F	HGF_ENST00000457544.2_Missense_Mutation_p.Y539F	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	544	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CCAAGCTTCATAATCTTTCAA	0.338																																						uc003uhl.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(1630-1632)TAT>TTT		hepatocyte growth factor isoform 1							112.0	119.0	117.0					7																	81335729		2203	4300	6503	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81335729T>A		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.1631A>T	7.37:g.81335729T>A	ENSP00000222390:p.Tyr544Phe					HGF_uc003uhm.2_Missense_Mutation_p.Y539F	p.Y544F	NM_000601	NP_000592	P14210	HGF_HUMAN			15	1796	-			544			Peptidase S1.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.1631A>T	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	T	19.94	3.920586	0.73213	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	D;D	0.88586	-2.4;-2.4	5.07	3.91	0.45181	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.057826	0.64402	D	0.000001	D	0.90834	0.7121	L	0.41027	1.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	D	0.90412	0.4410	10	0.72032	D	0.01	.	10.7739	0.46338	0.0:0.0758:0.0:0.9242	.	539;544	P14210-3;P14210	.;HGF_HUMAN	F	544;539	ENSP00000222390:Y544F;ENSP00000391238:Y539F	ENSP00000222390:Y544F	Y	-	2	0	HGF	81173665	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	4.466000	0.60148	0.862000	0.35528	0.477000	0.44152	TAT		0.338	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		26	76	0	0	0	0	26	76				
CALCR	799	broad.mit.edu	37	7	93108690	93108690	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:93108690G>A	ENST00000394441.1	-	3	496	c.181C>T	c.(181-183)Cag>Tag	p.Q61*	CALCR_ENST00000421592.1_Nonsense_Mutation_p.Q61*|CALCR_ENST00000426151.1_Nonsense_Mutation_p.Q61*|CALCR_ENST00000360249.4_Nonsense_Mutation_p.Q61*|CALCR_ENST00000359558.2_Nonsense_Mutation_p.Q79*	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	79					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	GCGGGTAACTGCTGCATTCGG	0.378																																						uc003umv.1		NA																	0				ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(235-237)CAG>TAG		calcitonin receptor isoform 2 precursor	Salmon Calcitonin(DB00017)						275.0	260.0	265.0					7																	93108690		2203	4300	6503	SO:0001587	stop_gained	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding	g.chr7:93108690G>A	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.181C>T	7.37:g.93108690G>A	ENSP00000377959:p.Gln61*					CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Nonsense_Mutation_p.Q61*|CALCR_uc003umw.2_Nonsense_Mutation_p.Q61*	p.Q79*	NM_001742	NP_001733	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		4	496	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		61			Extracellular (Potential).		A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Nonsense_Mutation	SNP	ENST00000394441.1	37	c.235C>T	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013782	0.93404	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000535783;ENST00000394441;ENST00000426151	.	.	.	5.22	1.02	0.19986	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	13.1424	0.59442	0.0:0.0:0.3084:0.6916	.	.	.	.	X	79;61;61;61;61;61	.	ENSP00000352561:Q79X	Q	-	1	0	CALCR	92946626	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.287000	0.18920	0.405000	0.25532	0.655000	0.94253	CAG		0.378	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		64	149	0	0	0	0	64	149				
MUC17	140453	broad.mit.edu	37	7	100681637	100681637	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:100681637A>G	ENST00000306151.4	+	3	7004	c.6940A>G	c.(6940-6942)Act>Gct	p.T2314A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2314	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTACTTCTACTGAAGCCAG	0.483																																						uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(6940-6942)ACT>GCT		mucin 17 precursor							231.0	232.0	231.0					7																	100681637		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681637A>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6940A>G	7.37:g.100681637A>G	ENSP00000302716:p.Thr2314Ala					MUC17_uc010lho.1_RNA	p.T2314A	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	6993	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2314			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|37.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.6940A>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	3.144	-0.175678	0.06421	.	.	ENSG00000169876	ENST00000306151	T	0.02258	4.37	1.19	-1.21	0.09524	.	.	.	.	.	T	0.01454	0.0047	L	0.29908	0.895	0.09310	N	1	B	0.17667	0.023	B	0.08055	0.003	T	0.49615	-0.8921	9	0.11485	T	0.65	.	2.2244	0.03980	0.451:0.3174:0.2316:0.0	.	2314	Q685J3	MUC17_HUMAN	A	2314	ENSP00000302716:T2314A	ENSP00000302716:T2314A	T	+	1	0	MUC17	100468357	0.000000	0.05858	0.003000	0.11579	0.008000	0.06430	0.236000	0.17967	-0.523000	0.06409	0.113000	0.15668	ACT		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		115	143	0	0	0	0	115	143				
KCND2	3751	broad.mit.edu	37	7	119915648	119915648	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:119915648C>G	ENST00000331113.4	+	1	1927	c.962C>G	c.(961-963)gCc>gGc	p.A321G		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	321					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	AAGAGTTGTGCCTCAGAATTG	0.512																																						uc003vjj.1		NA																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(961-963)GCC>GGC		potassium voltage-gated channel, Shal-related							145.0	110.0	122.0					7																	119915648		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119915648C>G	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.962C>G	7.37:g.119915648C>G	ENSP00000333496:p.Ala321Gly						p.A321G	NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN			1	1927	+	all_neural(327;0.117)		321			Cytoplasmic (Potential).		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.962C>G	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252588	0.80135	.	.	ENSG00000184408	ENST00000331113	D	0.98419	-4.92	5.4	5.4	0.78164	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98635	0.9543	L	0.61036	1.89	0.80722	D	1	D	0.67145	0.996	D	0.72625	0.978	D	0.98816	1.0745	9	.	.	.	.	19.5371	0.95257	0.0:1.0:0.0:0.0	.	321	Q9NZV8	KCND2_HUMAN	G	321	ENSP00000333496:A321G	.	A	+	2	0	KCND2	119702884	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.776000	0.85560	2.706000	0.92434	0.557000	0.71058	GCC		0.512	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		23	35	0	0	0	0	23	35				
PTPRZ1	5803	broad.mit.edu	37	7	121671535	121671535	+	Silent	SNP	C	C	T	rs371023137		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:121671535C>T	ENST00000393386.2	+	15	5499	c.5088C>T	c.(5086-5088)gtC>gtT	p.V1696V	PTPRZ1_ENST00000449182.1_Silent_p.V836V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1696					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TAGATGATGTCGGAGCAATTC	0.313																																						uc003vjy.2		NA																	0				ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(5086-5088)GTC>GTT		protein tyrosine phosphatase, receptor-type,		T	,,	0,4406		0,0,2203	89.0	86.0	87.0		2508,2508,5088	3.5	1.0	7		87	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	PTPRZ1	NM_001206838.1,NM_001206839.1,NM_002851.2	,,	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	,,	836/1456,836/1449,1696/2316	121671535	1,12997	2203	4296	6499	SO:0001819	synonymous_variant	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121671535C>T	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.5088C>T	7.37:g.121671535C>T						PTPRZ1_uc003vjz.2_Silent_p.V836V|PTPRZ1_uc011knt.1_Silent_p.V286V	p.V1696V	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			15	5483	+			1696			Cytoplasmic (Potential).		A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	ENST00000393386.2	37	c.5088C>T	CCDS34740.1																																																																																				0.313	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		21	35	0	0	0	0	21	35				
GPR37	2861	broad.mit.edu	37	7	124387345	124387345	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:124387345C>T	ENST00000303921.2	-	2	1726	c.1076G>A	c.(1075-1077)cGc>cAc	p.R359H		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	359					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGCACGGAAGCGGTCTATGCA	0.488																																						uc003vli.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1075-1077)CGC>CAC		G protein-coupled receptor 37 precursor							70.0	70.0	70.0					7																	124387345		2203	4300	6503	SO:0001583	missense	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124387345C>T		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1076G>A	7.37:g.124387345C>T	ENSP00000306449:p.Arg359His						p.R359H	NM_005302	NP_005293	O15354	GPR37_HUMAN			2	1727	-			359			Cytoplasmic (Potential).		A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	c.1076G>A	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.235678	0.79800	.	.	ENSG00000170775	ENST00000303921	D	0.97161	-4.27	5.64	5.64	0.86602	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000004	D	0.98651	0.9548	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99624	1.0984	10	0.87932	D	0	-25.215	18.6863	0.91565	0.0:1.0:0.0:0.0	.	359	O15354	GPR37_HUMAN	H	359	ENSP00000306449:R359H	ENSP00000306449:R359H	R	-	2	0	GPR37	124174581	1.000000	0.71417	1.000000	0.80357	0.588000	0.36517	7.818000	0.86416	2.659000	0.90383	0.563000	0.77884	CGC		0.488	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		6	38	0	0	0	0	6	38				
ZYX	7791	broad.mit.edu	37	7	143079743	143079743	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:143079743G>A	ENST00000322764.5	+	4	811	c.466G>A	c.(466-468)Gat>Aat	p.D156N	AC093673.5_ENST00000429630.1_RNA|ZYX_ENST00000477373.1_Intron|ZYX_ENST00000449423.2_Intron|ZYX_ENST00000392910.2_De_novo_Start_OutOfFrame	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	156					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|integrin-mediated signaling pathway (GO:0007229)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					CTCACTGCTGGATGACATGAC	0.527																																						uc003wcw.2		NA																	0					0						c.(466-468)GAT>AAT		zyxin							198.0	190.0	192.0					7																	143079743		2203	4300	6503	SO:0001583	missense	7791				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding	g.chr7:143079743G>A	X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840			13200	protein-coding gene	gene with protein product		602002				8917469, 8940160	Standard	XM_005250052		Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.466G>A	7.37:g.143079743G>A	ENSP00000324422:p.Asp156Asn					ZYX_uc011ktd.1_5'UTR|ZYX_uc003wcx.2_Missense_Mutation_p.D156N|ZYX_uc011kte.1_Intron|ZYX_uc011ktf.1_5'UTR	p.D156N	NM_001010972	NP_001010972	Q15942	ZYX_HUMAN			4	621	+	Melanoma(164;0.205)		156					A4D2G6|Q6I9S4	Missense_Mutation	SNP	ENST00000322764.5	37	c.466G>A	CCDS5883.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550530	0.65311	.	.	ENSG00000159840	ENST00000322764;ENST00000449630;ENST00000457235	T;T	0.51817	0.7;0.69	3.99	3.99	0.46301	.	0.469556	0.18791	N	0.131071	T	0.43765	0.1262	M	0.65975	2.015	0.80722	D	1	P	0.47409	0.895	B	0.41236	0.351	T	0.45411	-0.9263	10	0.07990	T	0.79	.	14.2673	0.66126	0.0:0.0:1.0:0.0	.	156	Q15942	ZYX_HUMAN	N	156;125;156	ENSP00000324422:D156N;ENSP00000413467:D125N	ENSP00000324422:D156N	D	+	1	0	ZYX	142789865	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.507000	0.60434	1.761000	0.52028	0.561000	0.74099	GAT		0.527	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156296.2	NM_003461		104	147	0	0	0	0	104	147				
OR2A2	442361	broad.mit.edu	37	7	143806846	143806846	+	Silent	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:143806846C>A	ENST00000408979.2	+	1	240	c.171C>A	c.(169-171)ccC>ccA	p.P57P		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TTCACACACCCATGTACTTCT	0.468																																						uc011ktz.1		NA																	0				skin(2)	2						c.(169-171)CCC>CCA		olfactory receptor, family 2, subfamily A,							217.0	215.0	216.0					7																	143806846		2110	4259	6369	SO:0001819	synonymous_variant	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143806846C>A		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"""GPCR / Class A : Olfactory receptors"""	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.171C>A	7.37:g.143806846C>A							p.P57P	NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN			1	171	+	Melanoma(164;0.0783)		57			Helical; Name=2; (Potential).		B2RN85|Q8NGT6	Silent	SNP	ENST00000408979.2	37	c.171C>A	CCDS43671.1																																																																																				0.468	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			104	130	1	0	4.98e-43	7.41e-43	104	130				
KMT2C	58508	broad.mit.edu	37	7	151945277	151945277	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:151945277A>C	ENST00000262189.6	-	14	2460	c.2242T>G	c.(2242-2244)Tgt>Ggt	p.C748G	KMT2C_ENST00000355193.2_Missense_Mutation_p.C748G	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	748					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCTTTCACACAACCCTCAATT	0.378																																						uc003wla.2		NA								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(2242-2244)TGT>GGT		myeloid/lymphoid or mixed-lineage leukemia 3							85.0	82.0	83.0					7																	151945277		2203	4296	6499	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151945277A>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2242T>G	7.37:g.151945277A>C	ENSP00000262189:p.Cys748Gly						p.C748G	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	14	2461	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	748					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2242T>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	A	2.117	-0.402377	0.04865	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83075	-1.68;-1.68	5.53	3.09	0.35607	.	0.159997	0.29198	N	0.012848	T	0.65460	0.2693	N	0.19112	0.55	0.09310	N	0.999998	B	0.06786	0.001	B	0.06405	0.002	T	0.45673	-0.9245	10	0.10902	T	0.67	.	6.7037	0.23238	0.7648:0.1539:0.0813:0.0	.	748	Q8NEZ4	MLL3_HUMAN	G	748	ENSP00000262189:C748G;ENSP00000347325:C748G	ENSP00000262189:C748G	C	-	1	0	MLL3	151576210	0.018000	0.18449	0.015000	0.15790	0.308000	0.27856	2.732000	0.47352	0.364000	0.24374	0.528000	0.53228	TGT		0.378	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			4	186	0	0	0	0	4	186				
MYOM2	9172	broad.mit.edu	37	8	2056622	2056622	+	Splice_Site	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:2056622G>A	ENST00000262113.4	+	24	3184		c.e24+1		MYOM2_ENST00000523438.1_Splice_Site	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2						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)		AAGAACCCCAGTAAGTAAGCC	0.473																																						uc003wpx.3		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.e24+1		myomesin 2							111.0	109.0	109.0					8																	2056622		2203	4300	6503	SO:0001630	splice_region_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2056622G>A		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.3043+1G>A	8.37:g.2056622G>A						MYOM2_uc011kwi.1_Splice_Site_p.T440_splice	p.T1015_splice	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)	24	3181	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)						Q7Z3Y2	Splice_Site	SNP	ENST00000262113.4	37	c.3043_splice	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.823288	0.71143	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3096	0.94182	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYOM2	2044029	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	7.505000	0.81655	2.542000	0.85734	0.655000	0.94253	.		0.473	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970	Intron	19	36	0	0	0	0	19	36				
XPO7	23039	broad.mit.edu	37	8	21848388	21848388	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:21848388A>G	ENST00000252512.9	+	18	2099	c.1999A>G	c.(1999-2001)Acc>Gcc	p.T667A	XPO7_ENST00000433566.4_Missense_Mutation_p.T668A|XPO7_ENST00000434536.1_Missense_Mutation_p.T676A	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	667					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GTGTCGGACTACCTTCTACAC	0.403																																						uc003xaa.3		NA																	0				ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5						c.(1999-2001)ACC>GCC		exportin 7 isoform b							232.0	226.0	228.0					8																	21848388		1907	4125	6032	SO:0001583	missense	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21848388A>G	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.1999A>G	8.37:g.21848388A>G	ENSP00000252512:p.Thr667Ala					XPO7_uc010lti.2_Missense_Mutation_p.T676A|XPO7_uc010ltk.2_Missense_Mutation_p.T668A	p.T667A	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	18	2101	+			667					O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	c.1999A>G	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.023456	0.75390	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.64085	-0.08;-0.08;-0.08	5.94	5.94	0.96194	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.60907	0.2305	M	0.70595	2.14	0.80722	D	1	B;B;B	0.17268	0.021;0.01;0.01	B;B;B	0.21151	0.033;0.033;0.033	T	0.58463	-0.7632	10	0.10377	T	0.69	-18.7359	16.0637	0.80856	1.0:0.0:0.0:0.0	.	668;676;667	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	A	676;667;668	ENSP00000404853:T676A;ENSP00000252512:T667A;ENSP00000410249:T668A	ENSP00000252512:T667A	T	+	1	0	XPO7	21904334	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.313000	0.96297	2.274000	0.75844	0.528000	0.53228	ACC		0.403	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		34	118	0	0	0	0	34	118				
PNMA2	10687	broad.mit.edu	37	8	26365820	26365820	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:26365820G>A	ENST00000522362.2	-	3	1346	c.452C>T	c.(451-453)gCa>gTa	p.A151V	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	151					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		aggcgcatgtgccattgcctg	0.587																																						uc003xez.2		NA																	0					0						c.(451-453)GCA>GTA		paraneoplastic antigen MA2							56.0	50.0	52.0					8																	26365820		2203	4300	6503	SO:0001583	missense	10687				apoptosis	nucleolus	protein binding	g.chr8:26365820G>A		CCDS34868.1	8p21.1	2012-02-09	2012-02-09		ENSG00000240694	ENSG00000240694		"""Paraneoplastic Ma antigens"""	9159	protein-coding gene	gene with protein product		603970	"""paraneoplastic antigen MA2"""			10362822	Standard	NM_007257		Approved	MA2, RGAG2	uc003xez.2	Q9UL42	OTTHUMG00000163816	ENST00000522362.2:c.452C>T	8.37:g.26365820G>A	ENSP00000429344:p.Ala151Val						p.A151V	NM_007257	NP_009188	Q9UL42	PNMA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)	3	1222	-		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)	151					B3KNY9|O94959|O95145|Q49A18|Q9UL43	Missense_Mutation	SNP	ENST00000522362.2	37	c.452C>T	CCDS34868.1	.	.	.	.	.	.	.	.	.	.	G	1.535	-0.543394	0.04053	.	.	ENSG00000240694	ENST00000522362	T	0.09817	2.94	4.22	0.378	0.16204	.	.	.	.	.	T	0.04770	0.0129	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44772	-0.9306	9	0.23302	T	0.38	-10.0284	6.4191	0.21734	0.4365:0.0:0.5635:0.0	.	151	Q9UL42	PNMA2_HUMAN	V	151	ENSP00000429344:A151V	ENSP00000429344:A151V	A	-	2	0	PNMA2	26421737	0.005000	0.15991	0.002000	0.10522	0.004000	0.04260	0.945000	0.29056	0.051000	0.15978	-0.150000	0.13652	GCA		0.587	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375709.2	NM_007257		10	36	0	0	0	0	10	36				
HOOK3	84376	broad.mit.edu	37	8	42823227	42823227	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:42823227G>A	ENST00000307602.4	+	11	1192	c.992G>A	c.(991-993)gGt>gAt	p.G331D		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	331					cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GAAGACCTTGGTGATTTAAGG	0.358			T	RET	papillary thyroid																																	uc003xpr.2		NA		Dom	yes		8	8p11.21	84376	T	hook homolog 3			E	RET		papillary thyroid		0				ovary(1)|breast(1)	2						c.(991-993)GGT>GAT		golgi-associated microtubule-binding protein							79.0	81.0	80.0					8																	42823227		2203	4300	6503	SO:0001583	missense	84376				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding	g.chr8:42823227G>A	AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"""hook homolog 3 (Drosophila)"""			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.992G>A	8.37:g.42823227G>A	ENSP00000305699:p.Gly331Asp					HOOK3_uc010lxq.1_Missense_Mutation_p.G331D	p.G331D	NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		11	1234	+	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	331			Potential.		D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	c.992G>A	CCDS6139.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702569	0.68501	.	.	ENSG00000168172	ENST00000307602	T	0.17213	2.29	5.37	5.37	0.77165	.	0.159208	0.56097	D	0.000040	T	0.34077	0.0885	L	0.54323	1.7	0.40076	D	0.976072	D;P	0.60160	0.987;0.759	D;B	0.63793	0.918;0.438	T	0.03231	-1.1058	10	0.12103	T	0.63	-21.1237	19.0793	0.93175	0.0:0.0:1.0:0.0	.	331;331	Q2VJ45;Q86VS8	.;HOOK3_HUMAN	D	331	ENSP00000305699:G331D	ENSP00000305699:G331D	G	+	2	0	HOOK3	42942384	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.614000	0.67695	2.649000	0.89929	0.655000	0.94253	GGT		0.358	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410		19	40	0	0	0	0	19	40				
PRKDC	5591	broad.mit.edu	37	8	48715931	48715931	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:48715931G>A	ENST00000314191.2	-	71	9911	c.9855C>T	c.(9853-9855)tgC>tgT	p.C3285C	Y_RNA_ENST00000384719.1_RNA|PRKDC_ENST00000338368.3_Silent_p.C3285C|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3286	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ACCGGCTCCGGCAGTGGCTCA	0.512								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NA																	0				lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(9856-9858)TGC>TGT	NHEJ	protein kinase, DNA-activated, catalytic							67.0	72.0	70.0					8																	48715931		2001	4174	6175	SO:0001819	synonymous_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48715931G>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.9855C>T	8.37:g.48715931G>A						PRKDC_uc003xqj.2_Silent_p.C3286C|PRKDC_uc011ldh.1_Intron	p.C3286C	NM_006904	NP_008835	P78527	PRKDC_HUMAN			71	9915	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3286			FAT.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37	c.9858C>T																																																																																					0.512	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		28	79	0	0	0	0	28	79				
VCPIP1	80124	broad.mit.edu	37	8	67578251	67578251	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:67578251A>T	ENST00000310421.4	-	1	1201	c.943T>A	c.(943-945)Tct>Act	p.S315T	C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	315	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TAATCACCAGAGCTTCTCATG	0.468																																					NSCLC(179;265 2915 6144 43644)	uc003xwn.2		NA																	0				lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8						c.(943-945)TCT>ACT		valosin containing protein (p97)/p47 complex							72.0	73.0	73.0					8																	67578251		2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67578251A>T	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.943T>A	8.37:g.67578251A>T	ENSP00000309031:p.Ser315Thr					SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank	p.S315T	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	1202	-		Lung NSC(129;0.142)|all_lung(136;0.227)	315			OTU.		Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.943T>A	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	A	15.44	2.833759	0.50951	.	.	ENSG00000175073	ENST00000310421	T	0.34472	1.36	5.97	5.97	0.96955	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.48768	0.1518	L	0.47716	1.5	0.58432	D	0.999999	D	0.63046	0.992	P	0.57152	0.814	T	0.39396	-0.9616	10	0.44086	T	0.13	-11.9229	16.4608	0.84044	1.0:0.0:0.0:0.0	.	315	Q96JH7	VCIP1_HUMAN	T	315	ENSP00000309031:S315T	ENSP00000309031:S315T	S	-	1	0	VCPIP1	67740805	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.576000	0.82467	2.288000	0.76882	0.533000	0.62120	TCT		0.468	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			32	54	0	0	0	0	32	54				
ARFGEF1	10565	broad.mit.edu	37	8	68184095	68184095	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:68184095T>A	ENST00000262215.3	-	10	1803	c.1414A>T	c.(1414-1416)Agg>Tgg	p.R472W		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	472					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)			TCATTTGTCCTGAAAATAGGT	0.358																																						uc003xxo.1		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8						c.(1414-1416)AGG>TGG		brefeldin A-inhibited guanine							72.0	73.0	73.0					8																	68184095		2203	4300	6503	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68184095T>A	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.1414A>T	8.37:g.68184095T>A	ENSP00000262215:p.Arg472Trp						p.R472W	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)		10	1804	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	472					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.1414A>T	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	t	29.0	4.967522	0.92855	.	.	ENSG00000066777	ENST00000262215	T	0.64618	-0.11	5.71	5.71	0.89125	Armadillo-type fold (1);	0.044949	0.85682	D	0.000000	D	0.82300	0.5007	M	0.88906	2.99	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	D	0.85685	0.1303	10	0.66056	D	0.02	.	15.9765	0.80071	0.0:0.0:0.0:1.0	.	472	Q9Y6D6	BIG1_HUMAN	W	472	ENSP00000262215:R472W	ENSP00000262215:R472W	R	-	1	2	ARFGEF1	68346649	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.827000	0.69300	2.175000	0.68902	0.477000	0.44152	AGG		0.358	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		8	41	0	0	0	0	8	41				
C8orf34	116328	broad.mit.edu	37	8	69552738	69552738	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:69552738G>T	ENST00000539993.1	+	8	1524	c.975G>T	c.(973-975)agG>agT	p.R325S	C8orf34_ENST00000518698.1_Missense_Mutation_p.R411S|C8orf34_ENST00000325233.3_Missense_Mutation_p.R69S|C8orf34_ENST00000337103.4_Missense_Mutation_p.R300S			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	325										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TCTGTTCAAGGTGTGCCAGGT	0.388																																						uc010lyz.2		NA																	0				large_intestine(1)	1						c.(973-975)AGG>AGT		hypothetical protein LOC116328							74.0	69.0	71.0					8																	69552738		2203	4299	6502	SO:0001583	missense	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69552738G>T	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.975G>T	8.37:g.69552738G>T	ENSP00000438159:p.Arg325Ser					C8orf34_uc003xyb.2_Missense_Mutation_p.R300S	p.R325S	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		8	1024	+			325					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37	c.975G>T		.	.	.	.	.	.	.	.	.	.	G	16.29	3.081515	0.55753	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000337103;ENST00000325233	T;T;T;T	0.61627	0.11;0.23;0.18;0.09	5.46	4.58	0.56647	.	0.138122	0.64402	D	0.000009	T	0.68805	0.3041	L	0.59436	1.845	0.44985	D	0.998009	D	0.67145	0.996	D	0.77557	0.99	T	0.67573	-0.5636	9	.	.	.	-13.2793	10.2821	0.43545	0.1686:0.0:0.8314:0.0	.	325	Q49A92	CH034_HUMAN	S	411;325;300;69	ENSP00000427820:R411S;ENSP00000438159:R325S;ENSP00000337174:R300S;ENSP00000319532:R69S	.	R	+	3	2	C8orf34	69715292	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.602000	0.54066	2.567000	0.86603	0.585000	0.79938	AGG		0.388	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958		24	45	1	0	7.88e-14	1.08e-13	24	45				
KCNB2	9312	broad.mit.edu	37	8	73848742	73848742	+	Silent	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:73848742T>C	ENST00000523207.1	+	3	1740	c.1152T>C	c.(1150-1152)taT>taC	p.Y384Y		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	384					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)	CTGTTGGCTATGGTGACATTT	0.453																																						uc003xzb.2		NA																	0				skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(1150-1152)TAT>TAC		potassium voltage-gated channel, Shab-related							101.0	100.0	100.0					8																	73848742		2203	4300	6503	SO:0001819	synonymous_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73848742T>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.1152T>C	8.37:g.73848742T>C							p.Y384Y	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	1740	+	Breast(64;0.137)		384			Selectivity filter (By similarity).		Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	c.1152T>C	CCDS6209.1																																																																																				0.453	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		23	101	0	0	0	0	23	101				
ZFHX4	79776	broad.mit.edu	37	8	77764235	77764235	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:77764235A>T	ENST00000521891.2	+	10	5526	c.5078A>T	c.(5077-5079)cAa>cTa	p.Q1693L	ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q1648L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q1667L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q1648L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1648	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			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)			TCACCAGCACAAATTCAGATG	0.423										HNSCC(33;0.089)																												uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(4942-4944)CAA>CTA		zinc finger homeodomain 4							110.0	108.0	109.0					8																	77764235		2055	4231	6286	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77764235A>T		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.5078A>T	8.37:g.77764235A>T	ENSP00000430497:p.Gln1693Leu	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.Q1693L|ZFHX4_uc003yaw.1_Missense_Mutation_p.Q1648L	p.Q1648L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	5330	+			1648			Gln-rich.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.4943A>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	11.88	1.769460	0.31320	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.56444	0.46;0.52;0.49;0.49	4.48	4.48	0.54585	.	0.000000	0.43110	U	0.000619	T	0.57681	0.2070	L	0.55743	1.74	0.80722	D	1	D;D;D	0.56968	0.963;0.978;0.978	P;P;P	0.50934	0.452;0.654;0.654	T	0.63834	-0.6547	10	0.72032	D	0.01	.	14.2328	0.65906	1.0:0.0:0.0:0.0	.	1648;1648;1693	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	L	1693;1693;1648;1648;1667	ENSP00000430497:Q1693L;ENSP00000399605:Q1648L;ENSP00000050961:Q1648L;ENSP00000430848:Q1667L	ENSP00000050961:Q1648L	Q	+	2	0	ZFHX4	77926790	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.004000	0.93583	2.012000	0.59069	0.519000	0.50382	CAA		0.423	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		17	55	0	0	0	0	17	55				
SLC26A7	115111	broad.mit.edu	37	8	92365165	92365165	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:92365165G>T	ENST00000276609.3	+	11	1494	c.1255G>T	c.(1255-1257)Gga>Tga	p.G419*	SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Nonsense_Mutation_p.G419*|SLC26A7_ENST00000309536.2_Nonsense_Mutation_p.G419*	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GGGACTGAAGGGAATGCTAAT	0.313																																						uc003yex.2		NA																	0				ovary(2)	2						c.(1255-1257)GGA>TGA		solute carrier family 26, member 7 isoform a							125.0	130.0	128.0					8																	92365165		2203	4296	6499	SO:0001587	stop_gained	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92365165G>T	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1255G>T	8.37:g.92365165G>T	ENSP00000276609:p.Gly419*					SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Nonsense_Mutation_p.G419*|SLC26A7_uc003yfa.2_Nonsense_Mutation_p.G419*	p.G419*	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		12	1533	+			419			Helical; (Potential).			Nonsense_Mutation	SNP	ENST00000276609.3	37	c.1255G>T	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	G	40	8.469116	0.98825	.	.	ENSG00000147606	ENST00000523719;ENST00000276609;ENST00000309536	.	.	.	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.3617	0.90376	0.0:0.0:1.0:0.0	.	.	.	.	X	419	.	ENSP00000276609:G419X	G	+	1	0	SLC26A7	92434341	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	6.331000	0.72929	2.515000	0.84797	0.460000	0.39030	GGA		0.313	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			34	61	1	0	2.2e-31	3.26e-31	34	61				
TP53INP1	94241	broad.mit.edu	37	8	95952351	95952351	+	Silent	SNP	C	C	T	rs141483665	byFrequency	TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:95952351C>T	ENST00000342697.4	-	3	617	c.210G>A	c.(208-210)ccG>ccA	p.P70P	NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_Silent_p.P70P|TP53INP1_ENST00000378776.4_Silent_p.P70P	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	70					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to hydroperoxide (GO:0071447)|cellular response to methyl methanesulfonate (GO:0072703)|cellular response to UV (GO:0034644)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|response to heat (GO:0009408)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)			kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					CAAGAGATGCCGGTAAACAGG	0.473													C|||	19	0.00379393	0.0	0.0	5008	,	,		21444	0.0188		0.0	False		,,,				2504	0.0					uc003yhg.2		NA																	0					0						c.(208-210)CCG>CCA		tumor protein p53 inducible nuclear protein 1		C	,	0,4406		0,0,2203	110.0	117.0	115.0		210,210	-3.1	0.7	8	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TP53INP1	NM_001135733.1,NM_033285.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	70/165,70/241	95952351	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	94241				apoptosis	PML body		g.chr8:95952351C>T	AF409115	CCDS6265.1, CCDS47899.1	8q22	2004-03-11				ENSG00000164938			18022	protein-coding gene	gene with protein product		606185				11511362, 12438758	Standard	NM_033285		Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	Q96A56		ENST00000342697.4:c.210G>A	8.37:g.95952351C>T						C8orf38_uc003yhe.1_Intron|C8orf38_uc003yhf.2_Intron|TP53INP1_uc003yhh.2_Silent_p.P70P	p.P70P	NM_033285	NP_150601	Q96A56	T53I1_HUMAN			3	594	-	Breast(36;8.75e-07)		70					B2RCE5|Q969R9	Silent	SNP	ENST00000342697.4	37	c.210G>A	CCDS6265.1																																																																																				0.473	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379818.1			20	20	0	0	0	0	20	20				
LRP12	29967	broad.mit.edu	37	8	105510273	105510273	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:105510273A>T	ENST00000276654.5	-	5	615	c.507T>A	c.(505-507)gaT>gaA	p.D169E	LRP12_ENST00000424843.2_Missense_Mutation_p.D150E|LRP12_ENST00000518375.1_5'Flank	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	169	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)			AACGAAACTGATCACAAGCAC	0.363																																						uc003yma.2		NA																	0					0						c.(505-507)GAT>GAA		low density lipoprotein-related protein 12							92.0	88.0	89.0					8																	105510273		2203	4300	6503	SO:0001583	missense	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105510273A>T	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.507T>A	8.37:g.105510273A>T	ENSP00000276654:p.Asp169Glu					LRP12_uc003ymb.2_Missense_Mutation_p.D150E|LRP12_uc003ylz.2_5'Flank	p.D169E	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		5	602	-			169			Extracellular (Potential).|LDL-receptor class A 1.		A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	c.507T>A	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	A	15.00	2.702279	0.48307	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	D;D	0.95656	-3.77;-3.77	5.5	-0.852	0.10713	.	0.000000	0.85682	D	0.000000	D	0.91287	0.7253	L	0.50847	1.595	0.80722	D	1	P;P	0.44344	0.799;0.833	B;B	0.39503	0.199;0.301	D	0.85714	0.1321	10	0.29301	T	0.29	-26.3817	11.5415	0.50669	0.329:0.0:0.671:0.0	.	150;169	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	E	150;169	ENSP00000399148:D150E;ENSP00000276654:D169E	ENSP00000276654:D169E	D	-	3	2	LRP12	105579449	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	1.272000	0.33109	-0.148000	0.11234	0.460000	0.39030	GAT		0.363	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		27	45	0	0	0	0	27	45				
PKHD1L1	93035	broad.mit.edu	37	8	110431467	110431467	+	Silent	SNP	A	A	T	rs370695411		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:110431467A>T	ENST00000378402.5	+	22	2606	c.2502A>T	c.(2500-2502)acA>acT	p.T834T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	834					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTGGACACACATCTACAATCT	0.328										HNSCC(38;0.096)																												uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(2500-2502)ACA>ACT		fibrocystin L precursor							103.0	94.0	97.0					8																	110431467		1871	4103	5974	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110431467A>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.2502A>T	8.37:g.110431467A>T		HNSCC(38;0.096)					p.T834T	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		22	2606	+			834			Extracellular (Potential).		Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.2502A>T	CCDS47911.1																																																																																				0.328	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		3	22	0	0	0	0	3	22				
COL22A1	169044	broad.mit.edu	37	8	139649040	139649040	+	Splice_Site	SNP	T	T	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:139649040T>G	ENST00000303045.6	-	48	3948		c.e48-2		COL22A1_ENST00000435777.1_Splice_Site|COL22A1_ENST00000341807.4_Splice_Site	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						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)			TTGACTTCCCTTGAAAGGAAA	0.363										HNSCC(7;0.00092)																												uc003yvd.2		NA																	0				ovary(11)|pancreas(1)|skin(1)	13						c.e48-1		collagen, type XXII, alpha 1							174.0	172.0	173.0					8																	139649040		2203	4300	6503	SO:0001630	splice_region_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139649040T>G	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.3502-2A>C	8.37:g.139649040T>G		HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Splice_Site_p.G448_splice	p.G1168_splice	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		48	3949	-	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)							B7ZMH0|C9K0G4|Q8IVT9	Splice_Site	SNP	ENST00000303045.6	37	c.3502_splice	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	T	13.10	2.135430	0.37728	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7574	0.46245	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL22A1	139718222	0.998000	0.40836	0.953000	0.39169	0.453000	0.32348	3.894000	0.56250	2.036000	0.60181	0.477000	0.44152	.		0.363	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	Intron	58	132	0	0	0	0	58	132				
EPPK1	83481	broad.mit.edu	37	8	144940192	144940192	+	Silent	SNP	C	C	G	rs6982684		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:144940192C>G	ENST00000525985.1	-	2	7301	c.7230G>C	c.(7228-7230)acG>acC	p.T2410T				P58107	EPIPL_HUMAN	epiplakin 1	2410						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATAGGAGCCCCGTCTCAGGGT	0.577																																						uc003zaa.1		NA																	0				pancreas(1)|skin(1)	2						c.(15238-15240)ACG>ACC		epiplakin 1							36.0	38.0	37.0					8																	144940192		1916	4127	6043	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940192C>G	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7230G>C	8.37:g.144940192C>G							p.T5080T	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	15253	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		5080			Plectin 65.		Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.15240G>C																																																																																					0.577	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		5	26	0	0	0	0	5	26				
PLEC	5339	broad.mit.edu	37	8	144995520	144995520	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr8:144995520G>A	ENST00000322810.4	-	32	9049	c.8880C>T	c.(8878-8880)cgC>cgT	p.R2960R	PLEC_ENST00000354958.2_Silent_p.R2801R|PLEC_ENST00000354589.3_Silent_p.R2823R|PLEC_ENST00000357649.2_Silent_p.R2827R|PLEC_ENST00000345136.3_Silent_p.R2823R|PLEC_ENST00000356346.3_Silent_p.R2809R|PLEC_ENST00000398774.2_Silent_p.R2791R|PLEC_ENST00000527096.1_Silent_p.R2846R|PLEC_ENST00000436759.2_Silent_p.R2850R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2960	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCACGGGCACGCGGTGGCTGT	0.682																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(8878-8880)CGC>CGT		plectin isoform 1							56.0	61.0	59.0					8																	144995520		1991	4137	6128	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144995520G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8880C>T	8.37:g.144995520G>A						PLEC_uc003zab.1_Silent_p.R2823R|PLEC_uc003zac.1_Silent_p.R2827R|PLEC_uc003zad.2_Silent_p.R2823R|PLEC_uc003zae.1_Silent_p.R2791R|PLEC_uc003zag.1_Silent_p.R2801R|PLEC_uc003zah.2_Silent_p.R2809R|PLEC_uc003zaj.2_Silent_p.R2850R	p.R2960R	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	9050	-			2960			Plectin 4.|Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.8880C>T	CCDS43772.1																																																																																				0.682	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		12	101	0	0	0	0	12	101				
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2	R80*(MEWO_SKIN)|R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)	17																	1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	p.0?(1112)|p.R80*(88)|p.?(13)|p.R80Q(2)|p.P135L(2)|p.T79fs*37(1)|p.L65fs*38(1)|p.R80fs*66(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)|p.R80?(1)|p.R80L(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM014695	CDKN2A	M	rs121913388	c.(238-240)CGA>TGA		cyclin-dependent kinase inhibitor 2A isoform 1							11.0	14.0	13.0					9																	21971120		2172	4246	6418	SO:0001587	stop_gained	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971120G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.238C>T	9.37:g.21971120G>A	ENSP00000307101:p.Arg80*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P135L	p.R80*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	450	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	80		R -> P (in CMM2; loss of CDK4 binding).|R -> L (in a head and neck tumor).	ANK 3.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.238C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		3	5	0	0	0	0	3	5				
GBA2	57704	broad.mit.edu	37	9	35750932	35750932	+	5'Flank	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:35750932G>T	ENST00000378103.3	-	0	0				GBA2_ENST00000545786.1_5'Flank|RGP1_ENST00000378078.4_Missense_Mutation_p.V145F|MSMP_ENST00000414286.1_5'Flank|GBA2_ENST00000378094.4_5'Flank|RGP1_ENST00000456972.2_Missense_Mutation_p.V185F	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTGCCAGCGTGTCAACTCCCC	0.562																																						uc011lpf.1		NA																	0				ovary(1)	1						c.(433-435)GTC>TTC		RGP1 retrograde golgi transport homolog							62.0	64.0	63.0					9																	35750932		1992	4154	6146	SO:0001631	upstream_gene_variant	9827							g.chr9:35750932G>T	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35750932G>T	Exception_encountered					GBA2_uc011lpb.1_5'Flank|GBA2_uc003zxw.2_5'Flank|GBA2_uc011lpc.1_5'Flank|GBA2_uc011lpd.1_5'Flank|RGP1_uc011lpe.1_Missense_Mutation_p.V185F	p.V145F	NM_001080496	NP_001073965	Q92546	RGP1_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		5	574	+	all_epithelial(49;0.167)		145					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	c.433G>T	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711282	0.89112	.	.	ENSG00000107185	ENST00000456972;ENST00000378078	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.71134	0.3304	L	0.53561	1.675	0.80722	D	1	P;P	0.47604	0.898;0.898	P;P	0.59221	0.854;0.823	T	0.62789	-0.6780	9	0.10111	T	0.7	-18.8678	18.7715	0.91893	0.0:0.0:1.0:0.0	.	145;145	Q92546;A8K0K1	RGP1_HUMAN;.	F	185;145	.	ENSP00000367318:V145F	V	+	1	0	RGP1	35740932	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	8.659000	0.91116	2.738000	0.93877	0.655000	0.94253	GTC		0.562	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		58	18	1	0	1.08e-31	1.6e-31	58	18				
ROR2	4920	broad.mit.edu	37	9	94499675	94499675	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:94499675G>A	ENST00000375708.3	-	5	818	c.620C>T	c.(619-621)aCa>aTa	p.T207I	ROR2_ENST00000375715.1_Missense_Mutation_p.T67I|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	207	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCTCCTACCTGTGATTCGGTT	0.522																																						uc004arj.1		NA																	0				lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						c.(619-621)ACA>ATA		receptor tyrosine kinase-like orphan receptor 2							149.0	116.0	127.0					9																	94499675		2203	4300	6503	SO:0001583	missense	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94499675G>A	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.620C>T	9.37:g.94499675G>A	ENSP00000364860:p.Thr207Ile					ROR2_uc004ari.1_Missense_Mutation_p.T67I|ROR2_uc004ark.2_Missense_Mutation_p.T207I	p.T207I	NM_004560	NP_004551	Q01974	ROR2_HUMAN			5	819	-			207			FZ.|Extracellular (Potential).		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.620C>T	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650914	0.67472	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	T;T	0.76839	0.56;-1.05	4.42	4.42	0.53409	Frizzled domain (2);	0.000000	0.43416	D	0.000576	D	0.85492	0.5709	L	0.55481	1.735	0.80722	D	1	P;D;D	0.89917	0.872;1.0;0.992	P;D;P	0.87578	0.758;0.998;0.886	D	0.86081	0.1544	10	0.51188	T	0.08	.	17.587	0.87984	0.0:0.0:1.0:0.0	.	207;207;67	A1L4F5;Q01974;B1APY4	.;ROR2_HUMAN;.	I	67;207	ENSP00000364867:T67I;ENSP00000364860:T207I	ENSP00000364860:T207I	T	-	2	0	ROR2	93539496	1.000000	0.71417	0.994000	0.49952	0.521000	0.34408	9.483000	0.97937	2.431000	0.82371	0.655000	0.94253	ACA		0.522	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			27	37	0	0	0	0	27	37				
COL15A1	1306	broad.mit.edu	37	9	101800963	101800963	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:101800963T>A	ENST00000375001.3	+	22	2846	c.2423T>A	c.(2422-2424)aTc>aAc	p.I808N		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	808	Nonhelical region 4 (NC4).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTGATCAATATCACCCATGGA	0.478																																						uc004azb.1		NA																	0				ovary(6)	6						c.(2422-2424)ATC>AAC		alpha 1 type XV collagen precursor							269.0	232.0	244.0					9																	101800963		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101800963T>A	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2423T>A	9.37:g.101800963T>A	ENSP00000364140:p.Ile808Asn						p.I808N	NM_001855	NP_001846	P39059	COFA1_HUMAN			22	2629	+		Acute lymphoblastic leukemia(62;0.0562)	808			Nonhelical region 4 (NC4).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.2423T>A	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	T	10.17	1.275857	0.23307	.	.	ENSG00000204291	ENST00000375001	D	0.89617	-2.54	4.79	-0.558	0.11796	.	0.645706	0.16028	N	0.232999	T	0.77032	0.4071	N	0.24115	0.695	0.28929	N	0.891703	B	0.29432	0.244	B	0.29176	0.099	T	0.67581	-0.5634	10	0.51188	T	0.08	-0.0933	4.138	0.10179	0.0:0.1937:0.3542:0.4521	.	808	P39059	COFA1_HUMAN	N	808	ENSP00000364140:I808N	ENSP00000364140:I808N	I	+	2	0	COL15A1	100840784	0.983000	0.35010	0.989000	0.46669	0.965000	0.64279	0.696000	0.25541	0.088000	0.17205	0.533000	0.62120	ATC		0.478	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		27	99	0	0	0	0	27	99				
TEX10	54881	broad.mit.edu	37	9	103109584	103109584	+	Silent	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:103109584G>A	ENST00000374902.4	-	3	461	c.285C>T	c.(283-285)caC>caT	p.H95H	TEX10_ENST00000535814.1_Silent_p.H98H|TEX10_ENST00000537512.1_Silent_p.H30H	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	95						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)		TGTTTGAAAGGTGTGCATCAA	0.388																																						uc004bas.2		NA																	0				ovary(1)|skin(1)	2						c.(283-285)CAC>CAT		testis expressed 10 isoform 1							148.0	157.0	154.0					9																	103109584		2203	4300	6503	SO:0001819	synonymous_variant	54881					integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	g.chr9:103109584G>A	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.285C>T	9.37:g.103109584G>A						TEX10_uc011lvf.1_Silent_p.H30H|TEX10_uc011lvg.1_Silent_p.H98H|TEX10_uc011lvh.1_Silent_p.H30H|TEX10_uc004bat.2_Silent_p.H95H	p.H95H	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.157)	3	500	-		Acute lymphoblastic leukemia(62;0.0527)	95					B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Silent	SNP	ENST00000374902.4	37	c.285C>T	CCDS6748.1																																																																																				0.388	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746		56	174	0	0	0	0	56	174				
ASTN2	23245	broad.mit.edu	37	9	119567939	119567939	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:119567939G>A	ENST00000313400.4	-	13	2468	c.2368C>T	c.(2368-2370)Caa>Taa	p.Q790*	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Nonsense_Mutation_p.Q739*|ASTN2_ENST00000373996.3_Nonsense_Mutation_p.Q786*			O75129	ASTN2_HUMAN	astrotactin 2	790					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ACTTGGCCTTGGTTCACATGC	0.498																																						uc004bjs.1		NA																	0				skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(2368-2370)CAA>TAA		astrotactin 2 isoform c							193.0	173.0	180.0					9																	119567939		2203	4300	6503	SO:0001587	stop_gained	23245					integral to membrane		g.chr9:119567939G>A	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.2368C>T	9.37:g.119567939G>A	ENSP00000314038:p.Gln790*					ASTN2_uc004bjr.1_Nonsense_Mutation_p.Q786*|ASTN2_uc004bjt.1_Nonsense_Mutation_p.Q739*	p.Q790*	NM_198187	NP_937830	O75129	ASTN2_HUMAN			13	2469	-			790			Extracellular (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Nonsense_Mutation	SNP	ENST00000313400.4	37	c.2368C>T		.	.	.	.	.	.	.	.	.	.	G	39	7.906805	0.98554	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	.	.	.	5.49	5.49	0.81192	.	0.205997	0.42294	D	0.000728	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.1449	19.3861	0.94556	0.0:0.0:1.0:0.0	.	.	.	.	X	790;786;513;739	.	.	Q	-	1	0	ASTN2	118607760	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.837000	0.62796	2.565000	0.86533	0.655000	0.94253	CAA		0.498	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		52	65	0	0	0	0	52	65				
TLR4	7099	broad.mit.edu	37	9	120470905	120470905	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:120470905C>A	ENST00000355622.6	+	2	259	c.158C>A	c.(157-159)cCc>cAc	p.P53H	TLR4_ENST00000394487.4_Missense_Mutation_p.P13H|TLR4_ENST00000472304.1_Intron|RNU6-1082P_ENST00000364574.1_RNA	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	53					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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 signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	GACAACCTCCCCTTCTCAACC	0.433																																						uc004bjz.2		NA																	0				lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(157-159)CCC>CAC		toll-like receptor 4 precursor							160.0	160.0	160.0					9																	120470905		2203	4300	6503	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120470905C>A	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.158C>A	9.37:g.120470905C>A	ENSP00000363089:p.Pro53His					TLR4_uc004bka.2_Missense_Mutation_p.P13H|TLR4_uc004bkb.2_Intron	p.P53H	NM_138554	NP_612564	O00206	TLR4_HUMAN			2	449	+			53			Extracellular (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.158C>A	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558431	0.86231	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.53857	1.04;0.6	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000002	T	0.71508	0.3348	M	0.64404	1.975	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	T	0.72587	-0.4248	10	0.87932	D	0	.	18.2951	0.90143	0.0:1.0:0.0:0.0	.	53	O00206	TLR4_HUMAN	H	13;53	ENSP00000377997:P13H;ENSP00000363089:P53H	ENSP00000363089:P53H	P	+	2	0	TLR4	119510726	0.995000	0.38212	0.439000	0.26833	0.967000	0.64934	5.483000	0.66838	2.827000	0.97445	0.655000	0.94253	CCC		0.433	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		37	100	1	0	1.91e-15	2.66e-15	37	100				
NUP214	8021	broad.mit.edu	37	9	134090708	134090708	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:134090708A>T	ENST00000359428.5	+	31	5846	c.5702A>T	c.(5701-5703)aAc>aTc	p.N1901I	NUP214_ENST00000451030.1_Missense_Mutation_p.N1902I|NUP214_ENST00000483497.2_Missense_Mutation_p.N727I|NUP214_ENST00000411637.2_Missense_Mutation_p.N1891I			P35658	NU214_HUMAN	nucleoporin 214kDa	1901	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GCCAACAAAAACCCATTCAGC	0.517			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	uc004cag.2		NA		Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	DEK|SET|ABL1		AML|T-ALL		0				breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16						c.(5701-5703)AAC>ATC		nucleoporin 214kDa							104.0	105.0	105.0					9																	134090708		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134090708A>T	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.5702A>T	9.37:g.134090708A>T	ENSP00000352400:p.Asn1901Ile					NUP214_uc004cah.2_Missense_Mutation_p.N1891I|NUP214_uc004cai.2_Missense_Mutation_p.N1331I|NUP214_uc010mzg.2_RNA|NUP214_uc011mcg.1_Missense_Mutation_p.N727I	p.N1901I	NM_005085	NP_005076	P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	31	5813	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1901			Pro/Ser/Thr-rich.|11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.5702A>T	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.851232	0.91355	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497	T;T;T;T	0.67345	0.22;0.24;0.22;-0.26	6.08	6.08	0.98989	.	0.000000	0.48767	D	0.000179	T	0.66973	0.2844	N	0.08118	0	0.80722	D	1	D;D;D;D	0.76494	0.985;0.997;0.999;0.999	P;D;D;D	0.71414	0.889;0.933;0.973;0.973	T	0.74827	-0.3532	10	0.72032	D	0.01	-15.5255	15.825	0.78698	1.0:0.0:0.0:0.0	.	727;1495;1891;1901	B7ZAV2;Q5JUP9;P35658-4;P35658	.;.;.;NU214_HUMAN	I	1901;1891;1902;1880;1495;1330;727	ENSP00000352400:N1901I;ENSP00000396576:N1891I;ENSP00000405014:N1902I;ENSP00000436793:N727I	ENSP00000352400:N1901I	N	+	2	0	NUP214	133080529	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.577000	0.90773	2.333000	0.79357	0.533000	0.62120	AAC		0.517	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		40	39	0	0	0	0	40	39				
SNAPC4	6621	broad.mit.edu	37	9	139273626	139273626	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:139273626C>T	ENST00000298532.2	-	21	3021	c.2653G>A	c.(2653-2655)Ggc>Agc	p.G885S		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GGCCGGGGGCCGGTTGAAGCC	0.687																																						uc004chh.2		NA																	0					0						c.(2653-2655)GGC>AGC		small nuclear RNA activating complex,							9.0	14.0	12.0					9																	139273626		2187	4283	6470	SO:0001583	missense	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139273626C>T	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.2653G>A	9.37:g.139273626C>T	ENSP00000298532:p.Gly885Ser						p.G885S	NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	21	2662	-		Myeloproliferative disorder(178;0.0511)	885						Missense_Mutation	SNP	ENST00000298532.2	37	c.2653G>A	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.012254	0.35511	.	.	ENSG00000165684	ENST00000298532	T	0.26810	1.71	3.47	1.56	0.23342	.	5.150750	0.00628	N	0.000477	T	0.39545	0.1082	L	0.52573	1.65	0.24548	N	0.994032	D	0.71674	0.998	P	0.55303	0.773	T	0.12734	-1.0536	10	0.66056	D	0.02	-6.6736	7.3238	0.26542	0.0:0.732:0.1704:0.0976	.	885	Q5SXM2	SNPC4_HUMAN	S	885	ENSP00000298532:G885S	ENSP00000298532:G885S	G	-	1	0	SNAPC4	138393447	0.007000	0.16637	0.199000	0.23439	0.138000	0.21146	0.769000	0.26604	0.179000	0.19938	0.561000	0.74099	GGC		0.687	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		5	5	0	0	0	0	5	5				
NOTCH1	4851	broad.mit.edu	37	9	139402542	139402542	+	Silent	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:139402542C>G	ENST00000277541.6	-	21	3450	c.3375G>C	c.(3373-3375)gcG>gcC	p.A1125A		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1125	EGF-like 29. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCGTGTTGCCCGCGTCCACAC	0.677			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(3373-3375)GCG>GCC		notch1 preproprotein							28.0	34.0	32.0					9																	139402542		2090	4205	6295	SO:0001819	synonymous_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139402542C>G	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.3375G>C	9.37:g.139402542C>G		HNSCC(8;0.001)				NOTCH1_uc004cia.1_Silent_p.A355A	p.A1125A	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	21	3375	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1125			Extracellular (Potential).|EGF-like 29.		Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	c.3375G>C	CCDS43905.1																																																																																				0.677	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		7	33	0	0	0	0	7	33				
NDOR1	27158	broad.mit.edu	37	9	140109611	140109611	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr9:140109611C>G	ENST00000344894.5	+	9	1213	c.1130C>G	c.(1129-1131)cCc>cGc	p.P377R	NDOR1_ENST00000458322.2_Missense_Mutation_p.P377R|NDOR1_ENST00000371521.4_Missense_Mutation_p.P377R|NDOR1_ENST00000427047.2_Missense_Mutation_p.P343R	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1			NADPH dependent diflavin oxidoreductase 1									p.P377L(1)		breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GACCTCATCCCCGTTATCCGG	0.667																																						uc004clw.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1129-1131)CCC>CGC		NADPH dependent diflavin oxidoreductase 1							80.0	66.0	70.0					9																	140109611		2201	4299	6500	SO:0001583	missense	27158				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding	g.chr9:140109611C>G	BC015735	CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1	9q34.3	2008-02-05			ENSG00000188566	ENSG00000188566			29838	protein-coding gene	gene with protein product	"""NADPH dependent FMN and FAD containing oxidoreductase"""	606073				10625700, 12631275	Standard	XM_005266066		Approved	NR1, bA350O14.9	uc004clx.3	Q9UHB4	OTTHUMG00000020986	ENST00000344894.5:c.1130C>G	9.37:g.140109611C>G	ENSP00000343344:p.Pro377Arg					NDOR1_uc004clx.2_Missense_Mutation_p.P377R|NDOR1_uc011mes.1_Missense_Mutation_p.P377R|NDOR1_uc004cly.2_Missense_Mutation_p.P343R	p.P377R	NM_014434	NP_055249	Q9UHB4	NDOR1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	9	1241	+	all_cancers(76;0.0926)		377			FAD-binding FR-type.			Missense_Mutation	SNP	ENST00000344894.5	37	c.1130C>G	CCDS7036.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730215	0.48939	.	.	ENSG00000188566	ENST00000458322;ENST00000427047;ENST00000371521;ENST00000344894	D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94	4.57	3.67	0.42095	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.056793	0.64402	N	0.000001	D	0.92374	0.7580	M	0.87381	2.88	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.989	D;D;D;D	0.79784	0.993;0.976;0.991;0.919	D	0.92236	0.5796	10	0.42905	T	0.14	-14.3798	13.769	0.63012	0.0:0.8444:0.1556:0.0	.	377;343;377;377	D3YTG6;D3YTH9;Q9UHB4-2;Q9UHB4	.;.;.;NDOR1_HUMAN	R	377;343;377;377	ENSP00000389905:P377R;ENSP00000394309:P343R;ENSP00000360576:P377R;ENSP00000343344:P377R	ENSP00000343344:P377R	P	+	2	0	NDOR1	139229432	0.980000	0.34600	0.586000	0.28679	0.005000	0.04900	2.150000	0.42254	1.054000	0.40438	-0.225000	0.12378	CCC		0.667	NDOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254704.1	NM_014434		8	10	0	0	0	0	8	10				
GPR64	10149	broad.mit.edu	37	X	19022897	19022897	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:19022897A>G	ENST00000379869.3	-	23	2103	c.1940T>C	c.(1939-1941)cTt>cCt	p.L647P	GPR64_ENST00000379873.2_Missense_Mutation_p.L647P|GPR64_ENST00000360279.4_Missense_Mutation_p.L625P|GPR64_ENST00000379876.1_Missense_Mutation_p.L623P|GPR64_ENST00000340581.3_Missense_Mutation_p.L528P|GPR64_ENST00000356606.4_Missense_Mutation_p.L633P|GPR64_ENST00000357544.3_Missense_Mutation_p.L617P|GPR64_ENST00000354791.3_Missense_Mutation_p.L631P|GPR64_ENST00000357991.3_Missense_Mutation_p.L644P|GPR64_ENST00000379878.3_Missense_Mutation_p.L631P	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	647					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					GTAGGTTACAAGAGTCACTGA	0.413																																						uc004cyx.2		NA																	0					0						c.(1939-1941)CTT>CCT		G protein-coupled receptor 64 isoform 1							157.0	157.0	157.0					X																	19022897		2203	4300	6503	SO:0001583	missense	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19022897A>G	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.1940T>C	X.37:g.19022897A>G	ENSP00000369198:p.Leu647Pro					GPR64_uc004cyy.2_Missense_Mutation_p.L644P|GPR64_uc004cyz.2_Missense_Mutation_p.L633P|GPR64_uc004czb.2_Missense_Mutation_p.L647P|GPR64_uc004czc.2_Missense_Mutation_p.L631P|GPR64_uc004czd.2_Missense_Mutation_p.L623P|GPR64_uc004cze.2_Missense_Mutation_p.L617P|GPR64_uc004czf.2_Missense_Mutation_p.L609P|GPR64_uc004cza.2_Missense_Mutation_p.L625P|GPR64_uc004cyw.2_Missense_Mutation_p.L631P|GPR64_uc010nfj.2_Missense_Mutation_p.L528P	p.L647P	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN			23	2104	-	Hepatocellular(33;0.183)		647			Helical; Name=1; (Potential).		B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	ENST00000379869.3	37	c.1940T>C	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.446066	0.84101	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03	6.03	6.03	0.97812	GPCR, family 2-like (1);	0.148603	0.31279	N	0.007934	T	0.72220	0.3433	M	0.91510	3.215	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	0.979;0.998;1.0;0.997;0.997;1.0;1.0;1.0;1.0;0.997;1.0	T	0.79398	-0.1820	10	0.87932	D	0	.	15.4737	0.75461	1.0:0.0:0.0:0.0	.	528;609;617;623;631;647;625;633;644;647;631	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	P	647;631;631;623;617;647;625;644;633;528	ENSP00000369202:L647P;ENSP00000369207:L631P;ENSP00000346845:L631P;ENSP00000369205:L623P;ENSP00000350152:L617P;ENSP00000369198:L647P;ENSP00000353421:L625P;ENSP00000350680:L644P;ENSP00000349015:L633P;ENSP00000344972:L528P	ENSP00000344972:L528P	L	-	2	0	GPR64	18932818	1.000000	0.71417	0.951000	0.38953	0.937000	0.57800	8.907000	0.92634	2.038000	0.60285	0.486000	0.48141	CTT		0.413	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			55	30	0	0	0	0	55	30				
FAM47C	442444	broad.mit.edu	37	X	37028482	37028482	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:37028482C>T	ENST00000358047.3	+	1	2051	c.1999C>T	c.(1999-2001)Ccc>Tcc	p.P667S		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	667										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTCCAGTCTCCCCCCGGAGCC	0.642																																						uc004ddl.1		NA																	0				ovary(3)	3						c.(1999-2001)CCC>TCC		hypothetical protein LOC442444							22.0	24.0	24.0					X																	37028482		2153	4248	6401	SO:0001583	missense	442444							g.chrX:37028482C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1999C>T	X.37:g.37028482C>T	ENSP00000367913:p.Pro667Ser						p.P667S	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	2013	+			667					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1999C>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	0.050	-1.252749	0.01469	.	.	ENSG00000198173	ENST00000358047	T	0.12984	2.63	1.41	0.417	0.16421	.	.	.	.	.	T	0.05410	0.0143	N	0.08118	0	0.09310	N	1	B	0.27951	0.195	B	0.30251	0.113	T	0.44483	-0.9325	9	0.09590	T	0.72	.	4.6575	0.12624	0.0:0.569:0.0:0.431	.	667	Q5HY64	FA47C_HUMAN	S	667	ENSP00000367913:P667S	ENSP00000367913:P667S	P	+	1	0	FAM47C	36938403	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.359000	0.20233	-0.191000	0.10448	-0.457000	0.05445	CCC		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		14	9	0	0	0	0	14	9				
FGD1	2245	broad.mit.edu	37	X	54492197	54492197	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:54492197C>T	ENST00000375135.3	-	7	2162	c.1429G>A	c.(1429-1431)Gcc>Acc	p.A477T		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	477	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGCTCCACGGCCCGGTCAAAG	0.542																																						uc004dtg.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1429-1431)GCC>ACC		faciogenital dysplasia protein							86.0	65.0	72.0					X																	54492197		2203	4300	6503	SO:0001583	missense	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54492197C>T	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.1429G>A	X.37:g.54492197C>T	ENSP00000364277:p.Ala477Thr					FGD1_uc011moi.1_Missense_Mutation_p.A235T	p.A477T	NM_004463	NP_004454	P98174	FGD1_HUMAN			7	2163	-			477			DH.		Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	c.1429G>A	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357834	0.82243	.	.	ENSG00000102302	ENST00000375135	T	0.69561	-0.41	5.54	4.67	0.58626	Dbl homology (DH) domain (5);	0.000000	0.52532	D	0.000075	D	0.84279	0.5437	M	0.90595	3.13	0.46336	D	0.998993	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	D	0.87072	0.2160	10	0.72032	D	0.01	-24.2711	13.809	0.63250	0.1547:0.8453:0.0:0.0	.	235;477	B4DS99;P98174	.;FGD1_HUMAN	T	477	ENSP00000364277:A477T	ENSP00000364277:A477T	A	-	1	0	FGD1	54508922	1.000000	0.71417	0.650000	0.29550	0.941000	0.58515	5.940000	0.70187	1.103000	0.41568	0.523000	0.50628	GCC		0.542	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		17	4	0	0	0	0	17	4				
STARD8	9754	broad.mit.edu	37	X	67938280	67938280	+	Silent	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:67938280C>A	ENST00000252336.6	+	5	1656	c.1284C>A	c.(1282-1284)acC>acA	p.T428T	STARD8_ENST00000374597.3_Silent_p.T428T|STARD8_ENST00000374599.3_Silent_p.T508T	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	428					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GGGAACCCACCTTTGCCTCTA	0.622																																						uc004dxa.2		NA																	0				breast(3)|ovary(2)|pancreas(1)	6						c.(1282-1284)ACC>ACA		StAR-related lipid transfer (START) domain							42.0	31.0	35.0					X																	67938280		2203	4300	6503	SO:0001819	synonymous_variant	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67938280C>A	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.1284C>A	X.37:g.67938280C>A						STARD8_uc004dxb.2_Silent_p.T508T|STARD8_uc004dxc.3_Silent_p.T428T	p.T428T	NM_014725	NP_055540	Q92502	STAR8_HUMAN			5	1656	+			428					A8K6T2|D3DVT9|Q5JST0|Q68DG7	Silent	SNP	ENST00000252336.6	37	c.1284C>A	CCDS14390.1																																																																																				0.622	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		6	6	1	0	5.18e-06	6.02e-06	6	6				
KIAA2022	340533	broad.mit.edu	37	X	73962130	73962130	+	Silent	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:73962130G>T	ENST00000055682.6	-	3	2873	c.2262C>A	c.(2260-2262)tcC>tcA	p.S754S		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	754					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TAGCCTTTGAGGATTGGTTTT	0.388																																						uc004eby.2		NA																	0				ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(2260-2262)TCC>TCA		hypothetical protein LOC340533							70.0	68.0	69.0					X																	73962130		2203	4300	6503	SO:0001819	synonymous_variant	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73962130G>T		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.2262C>A	X.37:g.73962130G>T							p.S754S	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	2879	-			754					A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	ENST00000055682.6	37	c.2262C>A	CCDS35337.1																																																																																				0.388	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		21	12	1	0	5.26e-13	7.15e-13	21	12				
MAGEE2	139599	broad.mit.edu	37	X	75004022	75004022	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:75004022G>T	ENST00000373359.2	-	1	1057	c.865C>A	c.(865-867)Ctg>Atg	p.L289M		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	289										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCACCTTCCAGGGCCTTATTA	0.473																																						uc004ecj.1		NA																	0				ovary(1)|skin(1)	2						c.(865-867)CTG>ATG		melanoma antigen family E, 2							62.0	61.0	62.0					X																	75004022		2203	4300	6503	SO:0001583	missense	139599							g.chrX:75004022G>T	AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.865C>A	X.37:g.75004022G>T	ENSP00000362457:p.Leu289Met						p.L289M	NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN			1	1050	-			289					Q5JSI5	Missense_Mutation	SNP	ENST00000373359.2	37	c.865C>A	CCDS14431.1	.	.	.	.	.	.	.	.	.	.	G	2.968	-0.213030	0.06140	.	.	ENSG00000186675	ENST00000373359	T	0.07444	3.19	3.1	1.27	0.21489	.	.	.	.	.	T	0.04003	0.0112	N	0.08118	0	0.09310	N	1	B	0.26081	0.141	B	0.25884	0.064	T	0.40831	-0.9542	9	0.66056	D	0.02	.	3.2244	0.06726	0.1487:0.0:0.5943:0.257	.	289	Q8TD90	MAGE2_HUMAN	M	289	ENSP00000362457:L289M	ENSP00000362457:L289M	L	-	1	2	MAGEE2	74920747	0.995000	0.38212	0.022000	0.16811	0.823000	0.46562	0.964000	0.29306	0.192000	0.20272	0.422000	0.28245	CTG		0.473	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703		10	17	1	0	4.69e-08	5.8e-08	10	17				
CXorf57	55086	broad.mit.edu	37	X	105882844	105882844	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:105882844G>T	ENST00000372548.4	+	9	1770	c.1661G>T	c.(1660-1662)gGg>gTg	p.G554V	CXorf57_ENST00000372544.2_Intron|MIR548AN_ENST00000408286.2_RNA	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	554							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						GCAATTCAGGGGATAATTACT	0.423																																						uc004emi.3		NA																	0				ovary(1)|lung(1)|breast(1)	3						c.(1660-1662)GGG>GTG		hypothetical protein LOC55086							131.0	119.0	123.0					X																	105882844		2203	4300	6503	SO:0001583	missense	55086							g.chrX:105882844G>T	AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.1661G>T	X.37:g.105882844G>T	ENSP00000361628:p.Gly554Val					CXorf57_uc004emj.3_Intron	p.G554V	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN			9	1812	+			554					H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	ENST00000372548.4	37	c.1661G>T	CCDS14519.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896573	0.72639	.	.	ENSG00000147231	ENST00000372548	T	0.66995	-0.24	5.19	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.78227	0.4250	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80018	-0.1558	10	0.87932	D	0	-8.275	12.1111	0.53840	0.0878:0.0:0.9122:0.0	.	554	Q6NSI4	CX057_HUMAN	V	554	ENSP00000361628:G554V	ENSP00000361628:G554V	G	+	2	0	CXorf57	105769500	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.223000	0.72257	1.262000	0.44165	0.538000	0.68166	GGG		0.423	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015		41	22	1	0	1.07e-22	1.55e-22	41	22				
AMOT	154796	broad.mit.edu	37	X	112033827	112033827	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:112033827C>A	ENST00000524145.1	-	8	2184	c.2110G>T	c.(2110-2112)Gct>Tct	p.A704S	AMOT_ENST00000371959.3_Missense_Mutation_p.A704S|AMOT_ENST00000371962.1_Missense_Mutation_p.A472S|AMOT_ENST00000304758.1_Missense_Mutation_p.A295S|AMOT_ENST00000371958.1_Missense_Mutation_p.A472S			Q4VCS5	AMOT_HUMAN	angiomotin	704					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TACCTCTGAGCAGCCACAGTT	0.428																																						uc004epr.2		NA																	0				ovary(1)	1						c.(2110-2112)GCT>TCT		angiomotin isoform 1							233.0	219.0	224.0					X																	112033827		2203	4300	6503	SO:0001583	missense	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112033827C>A	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.2110G>T	X.37:g.112033827C>A	ENSP00000429013:p.Ala704Ser					AMOT_uc004eps.2_Missense_Mutation_p.A295S	p.A704S	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN			7	2110	-			704					Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	37	c.2110G>T	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443507	0.83993	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T;T	0.24908	2.06;2.12;2.37;2.12;1.83	5.86	4.99	0.66335	Angiomotin, C-terminal (1);	0.050037	0.85682	D	0.000000	T	0.31827	0.0809	M	0.69358	2.11	0.46437	D	0.999041	P	0.38617	0.64	B	0.42386	0.386	T	0.03662	-1.1015	10	0.23891	T	0.37	-13.1805	13.3406	0.60542	0.0:0.9214:0.0:0.0786	.	704	Q4VCS5	AMOT_HUMAN	S	295;704;472;704;472	ENSP00000305557:A295S;ENSP00000361027:A704S;ENSP00000361030:A472S;ENSP00000429013:A704S;ENSP00000361026:A472S	ENSP00000305557:A295S	A	-	1	0	AMOT	111920483	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.277000	0.51654	2.447000	0.82792	0.600000	0.82982	GCT		0.428	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		77	48	1	0	9.61e-26	1.41e-25	77	48				
DOCK11	139818	broad.mit.edu	37	X	117783069	117783069	+	Silent	SNP	C	C	G			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:117783069C>G	ENST00000276202.7	+	41	4623	c.4560C>G	c.(4558-4560)acC>acG	p.T1520T	DOCK11_ENST00000276204.6_Silent_p.T1520T	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1520					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AAAGGAAAACCTTTTTGAGGA	0.388																																						uc004eqp.2		NA																	0				ovary(3)	3						c.(4558-4560)ACC>ACG		dedicator of cytokinesis 11																																				SO:0001819	synonymous_variant	139818				blood coagulation	cytosol	GTP binding	g.chrX:117783069C>G	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.4560C>G	X.37:g.117783069C>G						DOCK11_uc004eqq.2_Silent_p.T1299T	p.T1520T	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN			41	4623	+			1520			DHR-2.		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Silent	SNP	ENST00000276202.7	37	c.4560C>G	CCDS35373.1																																																																																				0.388	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		34	18	0	0	0	0	34	18				
MAGEC1	9947	broad.mit.edu	37	X	140995560	140995560	+	Silent	SNP	T	T	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:140995560T>C	ENST00000285879.4	+	4	2656	c.2370T>C	c.(2368-2370)ctT>ctC	p.L790L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	790										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TAGCGAGTCTTCTCCAAAGTT	0.567										HNSCC(15;0.026)																												uc004fbt.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(2368-2370)CTT>CTC		melanoma antigen family C, 1							124.0	136.0	132.0					X																	140995560		2202	4300	6502	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140995560T>C	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2370T>C	X.37:g.140995560T>C		HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.L790L	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	2656	+	Acute lymphoblastic leukemia(192;6.56e-05)		790					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.2370T>C	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		69	37	0	0	0	0	69	37				
MAGEC1	9947	broad.mit.edu	37	X	140995929	140995929	+	Silent	SNP	C	C	T	rs370841892		TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chrX:140995929C>T	ENST00000285879.4	+	4	3025	c.2739C>T	c.(2737-2739)gaC>gaT	p.D913D	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	913	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AAAAGGTGGACGAGTTGGCGC	0.488										HNSCC(15;0.026)																												uc004fbt.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(2737-2739)GAC>GAT		melanoma antigen family C, 1		C		1,3834		0,1,1631,571	170.0	168.0	169.0		2739	-1.7	0.0	X		169	0,6728		0,0,2428,1872	no	coding-synonymous	MAGEC1	NM_005462.4		0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095		913/1143	140995929	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140995929C>T	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2739C>T	X.37:g.140995929C>T		HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Translation_Start_Site	p.D913D	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	3025	+	Acute lymphoblastic leukemia(192;6.56e-05)		913			MAGE.		A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.2739C>T	CCDS35417.1																																																																																				0.488	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		58	37	0	0	0	0	58	37				
MYCBP2	23077	broad.mit.edu	37	13	77625233	77625234	+	Frame_Shift_Ins	INS	-	-	C	rs140992315|rs77140803	byFrequency	TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr13:77625233_77625234insC	ENST00000544440.2	-	82	13722_13723	c.13705_13706insG	c.(13705-13707)gttfs	p.V4569fs	MYCBP2_ENST00000407578.2_Frame_Shift_Ins_p.V4607fs|MYCBP2_ENST00000357337.6_Frame_Shift_Ins_p.V4569fs					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)		ACAGAAAAAAACAGCCACTGAA	0.381																																						uc001vkf.2		NA																	0				ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(13705-13707)GTTfs		MYC binding protein 2																																				SO:0001589	frameshift_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77625233_77625234insC	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.13706dupG	13.37:g.77625234_77625234dupC	ENSP00000444596:p.Val4569fs					MYCBP2_uc010aev.2_Frame_Shift_Ins_p.V3973fs|MYCBP2_uc001vke.2_Frame_Shift_Ins_p.V1186fs	p.V4569fs	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	83	13796_13797	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	4569			B box-type.			Frame_Shift_Ins	INS	ENST00000544440.2	37	c.13705_13706insG																																																																																					0.381	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		7	72	NA	NA	NA	NA	7	72	---	---	---	---
TGM1	7051	broad.mit.edu	37	14	24727794	24727795	+	In_Frame_Ins	INS	-	-	ATGTCC			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr14:24727794_24727795insATGTCC	ENST00000206765.6	-	8	1367_1368	c.1244_1245insGGACAT	c.(1243-1245)atc>atGGACATc	p.414_415insMD	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	414					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CGTCGAAGTAGATGTCCATGGT	0.569																																						uc001wod.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(1243-1245)ATC>ATGGACATC		transglutaminase 1	L-Glutamine(DB00130)																																			SO:0001652	inframe_insertion	7051				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr14:24727794_24727795insATGTCC	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.1239_1244dupGGACAT	14.37:g.24727795_24727800dupATGTCC	ENSP00000206765:p.Met413_Asp414dup					TGM1_uc010tog.1_Intron	p.414_415insMD	NM_000359	NP_000350	P22735	TGM1_HUMAN		GBM - Glioblastoma multiforme(265;0.0186)	8	1368_1369	-			414_415					B4DWR7|Q197M4	In_Frame_Ins	INS	ENST00000206765.6	37	c.1244_1245insGGACAT	CCDS9622.1																																																																																				0.569	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359		12	85	NA	NA	NA	NA	12	85	---	---	---	---
APBA3	9546	broad.mit.edu	37	19	3752611	3752611	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:3752611delC	ENST00000316757.3	-	8	1490	c.1290delG	c.(1288-1290)gggfs	p.G430fs	AC005954.4_ENST00000586503.1_RNA|AC005954.3_ENST00000591962.1_RNA	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	430	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				in utero embryonic development (GO:0001701)|negative regulation of catalytic activity (GO:0043086)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCAGCAGGCCCCCCGTGCA	0.746																																						uc002lyp.1		NA																	0					0						c.(1288-1290)GGGfs		amyloid beta (A4) precursor protein-binding,							6.0	9.0	8.0					19																	3752611		2122	4173	6295	SO:0001589	frameshift_variant	9546				intracellular signal transduction|protein transport	intracellular|membrane	protein binding	g.chr19:3752611delC	AB021638	CCDS12110.1	19p13.3	2008-07-18	2008-07-18			ENSG00000011132			580	protein-coding gene	gene with protein product	"""X11-like 2"""	604262				10049767	Standard	NM_004886		Approved	X11L2, mint3	uc002lyp.1	O96018		ENST00000316757.3:c.1290delG	19.37:g.3752611delC	ENSP00000315136:p.Gly430fs					APBA3_uc002lyo.1_Frame_Shift_Del_p.G188fs	p.G430fs	NM_004886	NP_004877	O96018	APBA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1467	-		Hepatocellular(1079;0.137)	430			PDZ 1.		O60483|Q9UPZ2	Frame_Shift_Del	DEL	ENST00000316757.3	37	c.1290delG	CCDS12110.1																																																																																				0.746	APBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453634.2			11	4	NA	NA	NA	NA	11	4	---	---	---	---
MCEMP1	199675	broad.mit.edu	37	19	7743860	7743860	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr19:7743860delA	ENST00000333598.3	+	6	992	c.538delA	c.(538-540)aaafs	p.K180fs	TRAPPC5_ENST00000317378.5_5'Flank|CTD-3214H19.16_ENST00000597959.1_Frame_Shift_Del_p.E52fs|TRAPPC5_ENST00000426877.2_5'Flank|C19orf59_ENST00000597445.1_Frame_Shift_Del_p.K137fs|TRAPPC5_ENST00000596148.1_5'Flank	NM_174918.2	NP_777578.2	Q8IX19	MCEM1_HUMAN		180						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|skin(1)|stomach(1)	5						GGTGCTGCAGAAAATGCCACG	0.577											OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mhh.1		NA																	0				skin(1)	1						c.(538-540)AAAfs		mast cell-expressed membrane protein 1							32.0	36.0	35.0					19																	7743860		2202	4300	6502	SO:0001589	frameshift_variant	199675					integral to membrane		g.chr19:7743860delA																												ENST00000333598.3:c.538delA	19.37:g.7743860delA	ENSP00000329920:p.Lys180fs		OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	644	TRAPPC5_uc002mhi.1_5'Flank|TRAPPC5_uc002mhj.1_5'Flank|TRAPPC5_uc002mhk.1_5'Flank	p.K180fs	NM_174918	NP_777578	Q8IX19	MCEM1_HUMAN			6	563	+			180			Extracellular (Potential).		Q8IX20	Frame_Shift_Del	DEL	ENST00000333598.3	37	c.538delA	CCDS12183.1																																																																																				0.577	C19orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461248.1			2	4	NA	NA	NA	NA	2	4	---	---	---	---
PLSCR1	5359	broad.mit.edu	37	3	146246596	146246597	+	Frame_Shift_Ins	INS	-	-	T	rs78850778|rs138630543	byFrequency	TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr3:146246596_146246597insT	ENST00000342435.4	-	4	526_527	c.116_117insA	c.(115-117)tacfs	p.Y39fs	PLSCR1_ENST00000448787.2_Intron|PLSCR1_ENST00000448205.1_Intron|PLSCR1_ENST00000487389.1_Frame_Shift_Ins_p.Y32fs	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	39	Proline-rich domain (PRD).				acute-phase response (GO:0006953)|apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|negative regulation of viral genome replication (GO:0045071)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid scrambling (GO:0017121)|platelet activation (GO:0030168)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of gene expression (GO:0010628)|positive regulation of innate immune response (GO:0045089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|regulation of mast cell activation (GO:0033003)|response to interferon-beta (GO:0035456)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|epidermal growth factor receptor binding (GO:0005154)|phospholipid scramblase activity (GO:0017128)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						GGGGCCCAGGGTAGCCACTATA	0.5																																						uc003evx.3		NA																	0				ovary(2)	2						c.(115-117)TACfs		phospholipid scramblase 1																																				SO:0001589	frameshift_variant	5359				phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:146246596_146246597insT	AF098642	CCDS3135.1	3q23	2004-02-27			ENSG00000188313	ENSG00000188313			9092	protein-coding gene	gene with protein product		604170				9218461	Standard	NM_021105		Approved	MMTRA1B	uc003evx.4	O15162	OTTHUMG00000159427	ENST00000342435.4:c.117dupA	3.37:g.146246597_146246597dupT	ENSP00000345494:p.Tyr39fs					PLSCR1_uc003evy.3_Frame_Shift_Ins_p.Y32fs|PLSCR1_uc011bnn.1_Intron|PLSCR1_uc003evz.3_Intron|PLSCR1_uc003ewa.2_Frame_Shift_Ins_p.Y39fs	p.Y39fs	NM_021105	NP_066928	O15162	PLS1_HUMAN			4	504_505	-			39			Cytoplasmic.		B2R8H8|B4DTE8	Frame_Shift_Ins	INS	ENST00000342435.4	37	c.116_117insA	CCDS3135.1																																																																																				0.500	PLSCR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355257.2	NM_021105		12	60	NA	NA	NA	NA	12	60	---	---	---	---
WHSC1	7468	broad.mit.edu	37	4	1957868	1957869	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr4:1957868_1957869insC	ENST00000382895.3	+	17	3265_3266	c.2834_2835insC	c.(2833-2838)ggcagcfs	p.S946fs	WHSC1_ENST00000382888.3_Frame_Shift_Ins_p.S294fs|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000508803.1_Frame_Shift_Ins_p.S946fs|WHSC1_ENST00000382891.5_Frame_Shift_Ins_p.S946fs|WHSC1_ENST00000382892.2_Frame_Shift_Ins_p.S946fs	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	946					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GGGGACCGGGGCAGCCGCTACC	0.51			T	IGH@	MM																																	uc003gdz.3		NA		Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(2833-2835)GGCfs		Wolf-Hirschhorn syndrome candidate 1 protein																																				SO:0001589	frameshift_variant	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1957868_1957869insC	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.2835dupC	4.37:g.1957869_1957869dupC	ENSP00000372351:p.Ser946fs					WHSC1_uc003geb.3_Frame_Shift_Ins_p.G945fs|WHSC1_uc003gec.3_Frame_Shift_Ins_p.G945fs|WHSC1_uc003ged.3_Frame_Shift_Ins_p.G945fs|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Frame_Shift_Ins_p.G164fs|WHSC1_uc011bvh.1_Frame_Shift_Ins_p.G6fs|WHSC1_uc010icf.2_Frame_Shift_Ins_p.G293fs	p.G945fs	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	15	3010_3011	+		all_epithelial(65;1.34e-05)	945					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Frame_Shift_Ins	INS	ENST00000382895.3	37	c.2834_2835insC	CCDS33940.1																																																																																				0.510	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		14	134	NA	NA	NA	NA	14	134	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82580192	82580192	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-5432-01A-02D-1683-08	TCGA-CV-5432-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	91e9ac70-5524-4b13-9d53-7cec52b38ea5	56233478-0d9d-4a64-acfc-feee0c55ab94	g.chr7:82580192delC	ENST00000333891.9	-	6	10049	c.9712delG	c.(9712-9714)gaafs	p.E3238fs	PCLO_ENST00000423517.2_Frame_Shift_Del_p.E3238fs|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCCTGACGTTCCCACTCCAAT	0.458																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(9712-9714)GAAfs		piccolo isoform 1							77.0	74.0	75.0					7																	82580192		1862	4106	5968	SO:0001589	frameshift_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82580192delC	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.9712delG	7.37:g.82580192delC	ENSP00000334319:p.Glu3238fs					PCLO_uc003uhv.2_Frame_Shift_Del_p.E3238fs|PCLO_uc010lec.2_Frame_Shift_Del_p.E203fs	p.E3238fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			6	10001	-			3169			Gln-rich.			Frame_Shift_Del	DEL	ENST00000333891.9	37	c.9712delG	CCDS47630.1																																																																																				0.458	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		41	59	NA	NA	NA	NA	41	59	---	---	---	---
